From Rare Diseases, Genetic Disorders to Orphan Drugs

H Y Yang
*Undulated, a mouse mutation involving a single base pair change in a putative transcription factor, results in abnormal vertebrae
along the entire spinal column.
* Dominant ectopic expression( expression in the wrong somites ) of Hox 1.1 transgenes results in specific malformations in cervical
vertebrae in mice.
* Alterations of the int-1 proto-oncogene in transgenic mice results in losses of large areas of the midbrain and cerebellum
* Specific degradation of Oct-3 messenger RNA ( by injection of antisense Oct-3 oligonucleotides) in one-cell mouse embryos
arrests development at the one-cell stage

The development of an organism is a complex orchestration of cell divisions, cell migrations, cell interactions, gene regulation, cell
deaths, and differentiation. Any agent interfering with these processes can cause malformations in the embryo.
Malformation 形態缺陷 : Congenital ( " at birth" ) abnormalities are caused by genetic events ( mutations, aneuploidies, translocations )
先天性畸形的定義為與生俱來的大體構造缺陷
e.g. aniridia ( absence of the iris ) caused by the mutation of the pax-3 gene.
Curly tail and loop-tail mutations develop spina bifida and craniorachischisis, respectively. Deficiency of folic acid may cause
pyrimidine biosynthesis in splotch is inadequate. The Pax3 gene is mutated in splotch mice, and the Pax3 transcription factor
may regulate genes such as N-CAM, N-cadherin, c-met, MyoD. Myf-5 and versican. Pax3 is expressed in the closing neural
folds and adjacent tissues.
Down syndrome : caused by a trosomy of chromosone 21.
Teragen 致畸原( Greek "monster-formers "): a factor extrinsic ( exogenous agents : chemicals, viruses, radiation, or hyperthermia ) to the
developing organism that act in the interval between conception and birth to disruption or injure the progeny or provoke abnormal
development (organization )
e.g. Abnormalities of the anterior-posterior axis can caused either by mutation of certain Hox gene ( a malformation ), or by application
of a teratogen, retinoic acid during gastrulation
Teratogenesis 畸形發生學: describes the fact and the manner of the injuries and developmental provocations ( anatomical defects and
disordered development ) caused by teratogens.
- a process within the narrow developmental time of gestation
- 5 classes: deranged growth, retarded growth, deranged function, retarded function & death
Table : Leading Categories of Birth Defects
Birth defects are grouped into three major categories: 1) structural/metabolic; 2) congenital infections; and 3) other
conditions. Birth defects of the heart and circulatory system affect more infants than any other type of birth defect. Of all infants
born each year, approximately 1 in 115 has heart and/or circulatory defects.
Birth Defects Estimated Incidence
1. Structural/Metabolic
Heart and circulation 1 in 115 births
Muscles and skeleton 1 in 130 births
Club foot 1 in 735 births
Cleft lip/palate 1 in 930 births
Genital and urinary tract 1 in 135 births
Nervous system and eye 1 in 235 births
Anencephaly 1 in 8,000 births
Spina bifida 1 in 2,000 births
Chromosomal syndromes 1 in 600 births
Down syndrome (Trisomy 21) 1 in 900 births
Respiratory tract 1 in 900 births
Metabolic disorders 1 in 3,500 births
PKU 1 in 12,000 births
2. Congenital Infections
Congenital syphilis 1 in 2,000 births
Congenital HIV infection 1 in 2,700 births
Congenital rubella syndrome 1 in 100,000 births
3. Other
Rh disease 1 in 1,400 births
Fetal alcohol syndrome 1 in 1,000 births
Note: all numbers are based on the best available estimates, which underestimate the incidence of many birth defects.
Sources: March of Dimes, Metropolitan Atlanta Congenital Defects Program, and California Birth Defects Monitoring Program.

早在 1941 年 Gregg NM 醫師於奧地利調查懷孕婦女感染德國麻疹與發生畸胎之因果關係，發現婦女於懷孕的 1-2 月感染，導致嬰兒

先天白內障 (Congenital cataract )；於懷孕的第 3 月感染，形成耳聾。而發生先天性眼、心、耳障礙，及心智退化的比率亦均與感染
的日期息息相關。如頭四週高達 61%，5-8 週 26%，9-12 週 8%，而 14 週後少於 1% 。由此流行病學調查結果，學者才開始對畸胎學
深入的研究。
但社會大眾對畸胎的關切，始於 1960～1962 年於歐洲發生著名的 Thalidomide 海豹肢（phocomelia）四肢短少或無之畸胎的悲劇。該
藥於 1956 年由德國 Chemie Grunethal 化學廠生產；而由 Astra 藥廠以 Contergan 為商標上市。用於催眠，消除孕婦噁心等用途出售

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（50～200 mg）。而於歐洲保守估計造成 7～8 千人短缺(上)肢之畸型胎案件，及 400 名嬰兒死亡；導致德國於 1961 年 11 月 26 日，英
國於 27 日緊急撤銷該藥上市之許可。人類手腳分化的關鍵時刻在胎兒的 6-7 週（停經後 35-50 天；或著床後 23-38 天） ，紐西蘭白兔
之關鍵時刻是懷孕後 8-10 天。而常用以測定毒性作用之小白鼠或大白鼠對 Thalidomide 則不敏感，即使服用高劑量（400 mg/kg）亦
無致畸胎作用；僅有某些品種如兔子、猴子、狒狒及小猿猴產生與人類相似之反應。此特殊之毒性為導致發生此悲劇之主因之一。
學者對具導致畸胎藥物之化學構造加以追蹤研究而發現下列四化學結構物為原兇；如圖一 所示。其毒性作用為 A.直接對間葉之組
織毒性( 特異性地對軟骨 enchondral intermediates 之發育)，B. 抑制中腎與四肢之結合，C. 破壞神經脊( 顳骨岩部耳周圍 petrosum )之
發育導致內耳損傷及耳聾，類似 Holt-Oram syndrome.。其機轉為 1. 干擾葉酸與麩酸代謝，2. DNA 之去嘌呤核甘酸作用，3. 多胺類之
乙醯化，4.氧化性傷害， 5. 干擾 TBX5 基因( brachury 基因家族)之表現 。 此悲劇幸好沒在美國發生 ( Merrell 公司於 1960 年九月雖
向 FDA 申請，但由於 Dr. Frances Kelsey 注意到其藥可導致泛發性神經炎之副作用，而標籤上卻無任何警語及慢性毒性之資料；甚
至宣稱為懷孕或產後母親最佳、完全無毒之安眠藥；故極力反對，而尚未核准 ) 。隨後於 1962 年通過之 Kefauver-Harris 藥物修正
法案，即所謂聯邦食品藥物及化妝品法案之增修條文，明文規定慢性毒理試驗、臨床測試及療效評估（與安慰劑比較）等更嚴謹之
毒理實驗，為評估藥物之安全性必要實驗步驟。 （見 Guidelines for Reproduction Studies for Safety Evaluation of Drugs for Human Use (FDA, 1966)
之操作手冊） 。
現今 FDA 核准用於治療 erythema nodosum leprosum .
REFERENCES
Parman, T, Wiley, M.J. & Wells, P.G. Free radical-mediated oxidative DNA damage in the mechanism of thalidomide teratogenicity. Nature Med. 5, 582–585 (1999).
Li, Q.Y. et al. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nature Genet. 15, 21–29 (1997).
Basson, C.T. et al. Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome. Nature Genet. 15, 30–35 (1997).
隨後於 1966～1969 年，於麻州總醫院 Dr. Herbst A.L. 醫師發現七位年齡 15～22 之女性患有陰道腺狀腫瘤（已往腺狀腫瘤從未發現於
小於 30 歲之女性 ） 。追蹤後發現是由於母親服用 diethylstilbestrol 造成之隔代畸胎病。Diethylstilbestrol 於 40～70 年代是常用於防止自
發性流產之荷爾蒙製劑。 於 1953 年臨床實驗已証實於懷孕 20～35 週服用不會導致流產、早產，或死胎。直至 1971 年證實於著床
後 6-16 週服用 diethytstilbestrol 會導致圓柱形 Miillerian 管上皮細胞之分化不全（於女性分化為鱗狀細胞；於男性退化，與形成攝護腺
等有關） ，造成隔代男女生殖器之不健全發展（發生比率約千分之 0.14～1.4 間） 。由此事件顯示，除了對受孕與一般生殖狀態觀察，
更要對胎兒之生長，出生後之評估作多代觀察，於 1986 Thomas Shepard 出版之「致畸胎物之分類」 ，其中 900 種中已知有 38 種對人
類可造成畸胎 ( teratogen)。

早產 Premature births
- In 1985 study estimates that premature births account for 85% of all early infant deaths.
- It suggests that bacterial or other infections of the uterus cause 40% of premature births
- possible therapy : antibiotic ( erythromycin, clindamycin )
oxytocin antagonist : atosiban ( Ortho Pharmaceuticals )
- possible diagnosis for early warning :
fetal fibronectin ( the glue protein that holds the amniochorion to the surrounding uterine wall )
Matrix metalloproteinase-9 (MMP-9): an enzyme that degrades collagen, is increased in fetal membrane during labor
** Most congenital abnormalities are not yet able to be explained. For instance, congenital cardiac anormalies occur in about 1 in
every 200 live births. Genetic causes are responsible for about 8% of these heart abnormalities, and about 2% can be explained
by known teratogens. That leaves 90% of them unexplained.

GENETIC SCREENING
A. Newborn screening
- focused largely on the detection of inborn errors of metabolism ( inherited biochemical defect )
e.g. 1. PKU (phenylketouria ) discovered by Guthrie R. in 1961
- genetic heterogeneity
- low incidence : 1 in 11,500
- diet control : low phenylalanine begun in the first few weeks of life prevent marked mental retardation in affected
children
- pathology: Classical : phenylalanine OHase deficiency, and transient hyperphenylalaninemia due to hepatic immaturity
Varient : either a deficiency of dihydropteridine reductase or a defect in dihydrobiopterin synthesis. These disorders
require special diagnosis, and mental retardation is nor prevented by phenylalanine restriction alone.
2. others : galactosemia, branched-chain ketouria (maple syrup urine disease ), & homocystinuria.
B. Fetal (Prenatal ) screening
- one of the most important practiceal advances in medical genetics in recent years
- > 35W fetal cells from amniotic fluid
- chromosomal anormaly ( most commonly a balanced translocation )
- e.g. Down's syndrome
X chromosome-linked recessive disorder ( e.g. hemophilia or Duchenne muscular dystrophy )
- diagnosis marker :
-fetoprotein : neural tube defect
hexosaminidase : for Tay-Sachs disease
restriction enzymes Dde I & Mst II for sickle gene
polymorphic restriction site ; for single-gene disorder
C. Carrier screening
- identification of heterozygotes for an autosomal recessive ( e.g. Tay-Sachs disease ) or X-linked recessive disease
- Tay-Sachs disease : developmental delay, blindness, seizures and paralysis; it is usually fatal by age 3; and it is without specific
treatment.; occurs in Ashkenazi Jewish population.

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Genetic Disorders in Different Ethnic Groups
Africans : hemoglobinopathies, especially Hb S, Hb C, - and -thalassemia, persistent, Hb F, glucose-6-phosphate dehydrogenase deficiency,
African-type adult lactase deficiency.
Africans ( white South Africans ) : Variegate porphyria
Armenians 亞美尼亞人: Familial Mediterranean fever 家族性地中海熱
Ashkenazic Jews : Abetalipoproteinemia, Bloom syndrome, dystonia musculorum deformans, familial dysautonomia, factor XI (PTA) deficiency,
Gaucher disease ( adult form ), iminoglyciuria, Meckel syndrome, Niemann-Pick disease, pentosuria, spongy degeneration of brain, stub thumbs,
Tay-Sachs disease.
Chinese : Thalassemia (), glucose-6-phosphate dehydrogenase deficiency ( Chinese type ), adult lactase deficiency.
Eskimos : E1 ( pseudocholinesterase deficiency )
Finns 芬蘭人 : congenital nephrosis, aspartylglucosaminuria
Irish : neural tube defects, phenylketouria
Italians ( Northern ) : fucosidosis
Japanese and Koreans : Acatalasia, Oguchi disease, dyschromatosis universalis hereditaria
Mediterranean peoples ( Italians, Greeks, Sephardic Jews ) : Thalassemia ( mainly  ), gloucose-6-phosphate dehydrogenase deficiency
( Mediterranean type ), familial Mediterranean fever, glycogen storage disease ( type III )
Norwegians : cholestasis-lymphedema, phenylketouria

Categories of Genetic Disorders:

(1). 染色體異常(Chromosomal disorder)；由於
1. excess or loss of one or more chromosomes ( aneuploidy 非整倍體 )
2. breakage or loss of a piece of chromosome ( deletion 缺失 )
3. breakage of 2 chromosomes, with transfer and fusion of parts of the broken fragments onto each other ( translocation 轉位)
4. abnormal splitting of the centromere during mitosis so that one arm is lost and the other is duplicated to form one symmetric chromosome with
2 genetically identical arms ( isochromosome formation )
5. mosaicism 鑲嵌體: with a 45.X ( Turner syndrome ) and other cells with normal 46.XX
Among recognized first-trimester spontaneous abortions, the frequency of chromosomal defects is 50-60%
染色體數目異常之常見病例
- Trisomy 21 ( Down's syndrome , 1/600 ) : hypotonia, hyperextensible joints, mongoloid facies, mental retardation, CV ( endocardial cushion
defect, atrial & ventricular septal defect )
- Trisomy 13 (D) : single midline intracerebral ventricle with ocular defects, cleft lip & palate, polydactyly, mental retardation, CV (ventricular
septal defect, patent ductus arteriosus, double-outlet right ventricle ), with an average life span < 6M., 1/15,000
- Trisomy 18 (E) : Clenched hand, short sternum, low-arch dermalridge pattern on fingertips, mental retardation, CV ( congenital polyvalvular
dysplasia, ventricular septal defect, patent ductus arteriosus ) ; with an average life span < 6M., 1/5000
- Cri-Du-Chat (short-arm deletion-5 ): Cat cry, microcephaly, antimongoloid slant of palpebral fissures, mental retardation, CV ( ventricular
septal defect )
- Turner (45.X or 45X/46XX or 45X/46,XY or isochromosome Xq) : ovarian dysgenesis, board chest, lymphedema, webbed neck, CV
( coarctation of aorta, bicuspid aortic valve ), 1/1500 females
1. 於 1944 年 Wilkins & Fleishmann 認定為女性性腺發育不良( gonadal failure & sexual infantilism)、身材矮小( short stature )、
頸蹼形( neck webbed )成及前肘外翻( cryptorchidism )等特徵之疾病
2. 分 a).單一體(monosomic )；>50%為只有 45.X 的染色體; b). 鑲嵌體( mosaics ) : 25%之染色體組成為 45,X/46,XX 或
45,X/47,XXX; c). 環形染色體( Ring chromosomes ):一條正常的 X 染色體及一條異常的染色體; d). 長臂性等臂
染色體( Long arm isochromosome ) : X 染色體之短臂缺失; e). 性染色體正常的 Turner’s 表現型( Turner phenotype
with normal sex chromosomes )或 Noonan’s syndrome
3. 身材矮小不是由於 GH、Sex steriods, TH 缺乏，而是由於內生性生長因子 IGF-1 有關 Somatropin [rDNA orgin ]治療
( FDA 於 1996 年 12 月 30 日核准)
- 47.XXY : Klinefelter syndrome , testicular dysgenesis 睪丸缺陷, infertility, gynecomastia 男性女乳症, tall stature and behavior change,
1/700 males
- 47.XYY: normal fertile males, some show tendencies to criminality, 1/800 males
- 47.XXX : clinically normal femals, > 1/2 are mentally retarded and fertility is reduced, 1/1000 females.
- XXXY & XXXX : XXXY : hypogenitalism, mental retardation, radial-ulnar synostosis , CV( patent ductus arteriosus); XXXX : small hands,
incurving of fifth fingers, mental retardation, CV ( patent ductus arteriosus)
(2). Mendelian, or simple inherited disorder
(A ) Autosomal dominant 非性連顯性
Familial hypercholesterolemia, 1/500 Hereditary hemorrhagic telangiectasia,
Adult polycyctic kidney disease, 1/1250 Huntington's chorea, 1/2500
Hereditary spherocytosis, 1/5000 Acute intermittent porphyria
Osteogenesis imperfecta tarda von Willebrand's disease, 1/8000
Marfan's syndrome, 1/ 20,000 Myotonic dystrophy : 19
Idiopathic hypertropic subaortic stenosis ( IHSS ) Noonan's syndrome
Neurofibromatosis Tuberous sclerosis
(B) Autosomal recessive 非性連隱性
Tay-Sachs disease, 1/3000 ( Ashkenazi Jews ) Albinism Familial polyposis coli : 5
Retinoblastoma :13 Wilson's disease Hemochromatosis
Sickle cell anemia 鐮形紅血球貧血症,由於血色素鏈上第六個氨基酸 val 取代 glutamic acid; 發生率 1/655 (US blacks )
 Thalassemia Aniridia : 11 Cystic fibrosis : 7, 1/2500 , ( Caucasians )

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 Wilm's tumor : 11 Hereditary emphysema ( alpha1-antitrypsin ZZ genotype deficiency ), 1/3500
Homocystinuria Familial Mediterranean fever Friedeich's ataxia
Phenylketouria, 1/12,000 ( average )
(C) X-linked types
Hemophilia A, 1/10,000 males, Kallman syndrome, Choroideremia,
Glucose-6-phosphate dehydrogenase deficiency Fabry's disease
Duchenne's musclar dystropy, 1/300 males Ocular albinism Testicular feminization
Chronic granulomatous disease Hypophosphatemic rickets Fragile-X syndrome ( mental retardation )
Color blindness
(3). ultifactorial disorders
Thyroid disease Schizophrenia Psoriasis Manic-depressive psychosis
Essential hypertension Epilepsy Diabetes mellitus Coronary heart disease
Congenital heart disease Cleft lip and plate

Mapped or isolated genes causing human malformation

Position Disease Gene

1p36 Ehlers-Danlos syndrome, type VI Lysyl oxidase
1p34-36 hypophosphatasia alkaline phosphatase ( liver, bone, kidney )
1p34-36 Schwartz-Jampel syndrome
1p32-33 multiple epiphyseal dysplasia, type 2
1p21-22 Zellweger ( cerebro-hepatorenal) syndrome Peroxisomal membrane protein 1 ( 70kD )
1q21 Pyknodysostosis
1q41 Usher syndrome ( retinitis pigmentosa; deafness )
1q32-41 Van der Woude syndrome ( cleft lip & palate, lip pits )
2p Torre syndrome ( sebaceous gland tumours; internal carcinomas ) MSH2
2p12/2q14 Baraitser-Winter syndrome ( iris coloboma, ptosis, hypertelorism, mental retardation )
2p21 Holoprosencephaly
2p16 Carney complex
2q21 Cockayne syndrome ERCC3
2q31 Ehlers-Danlos syndrome, type IV collagen 3 (I)
2q31 Syndactyly type II HOXD13
2q31-ter Osteopoikilosis
2q37 Klein-Waardenburg syndrome Pax3
2q37 Waardenburg syndrome type 1 Pax3
3p26-25 von Hippel-Lindau diesase VHL tumor suppressor
3p24-25 Marfan syndrome type 2
3p24 Holoprosencephaly
3p22-23 Pseudo-Zellweger syndrome Peroxisomal bifunctional enzyme
3p14-21 Larsen syndrome
3p12-14 Waardenburg syndrome, type II MITF
3p11-13 Bardet-Biedl syndrome
3p22-23 Blepharophimosis-ptosis-epicanthus inversus
3p26 De Laange syndrome
3q2 Hyperparathyroidism( neonatal familial ) Parathyroid sensing receptor
4p Diabetes insipidus-diabetes mellitus-optic atrophy-deafness
4p16 Hypochondroplasia Fibroblast growth factor receptor 3
4p16 Achondroplasia Fibroblast growth factor receptor 3
4p16 Thanatophoric dysplasia Fibroblast growth factor receptor 3
4p16 Craniosynostosis ( adelaide type )
4p16 Ellis-van Greveld syndrome
4q12-13 Piebaldism KIT
4q25-27 Rieger syndrome
4q33-35 Aspartylglucosaminuria Aspartylglucosaminidase
5q21-34 Diastrophic dysplasia DTDST
5q22-23 Gardner syndrome
5q23-31 Beaal contractural arachnodactyly Fibrillin-2
5q32-33 Treacher Collins syndrome Trescle
5q34-ter Boston craniosynostosis MSX2
Cleidocranial dysplasia
6pter-p24 Agnathia-holoprosencephaly
6p23 Cleft lip & palate, ectodermal dysplasia
6p21-22 Stickler syndrome ( hereditary artho-ophthalmopathy ) COL11A2
6p21-22 Schmid metaphyseal dysplasia COL10A1
6q Volar nails
7p21 Saethre-Chotzen syndrome (acrocephalo-syndactyly )
7p13 Greig syndrome ( digital anormalies; macrocephaly ) GL13
7q11 Aortic stenosis Elastin
7q11 Argininosuccinic aciduria Argininosuccinate lyase
7q11 Williams syndrome Elastin

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7q21-22 Ectrodactyly ( autosomal dominant )
7q21-22 Ectrodactyly-ectodermal dysplasia-clefting
7q21-22 osteogenesis imperfecta, type1, II, III COL1A2
7q21-22 Ehlers-Danlos syndrome, type VIIA2 COL1A2
7q31 Pendred syndrome
7q32 Smith-Lemli-Opitz syndrome 7-dehydrocholesterol reductase
7q35-ter Triphalangeal thumb
7q36 Nicolai-Hamel polysyndactyly
7q36 Holoprosencephaly SHH
7q36 Currarino triad
8p12 Werner syndrome WRN
8p11 Pfeiffer syndrome fibroblast growth factor receptor 1
8q11-13 Branchio-oto-renal syndrome
8q22 Carboic anhydrase II deficiency ( Marble brain disease ) carbonic anhydrase II
8q22-23 Cohen syndrome
8q24 Langer-Giedion syndrome
8q24 Tricho-rhino-phalangeal syndrome
8q24 Mulitiple exostoses ( diaphyseal aclasis ) EXT1
9p13-22 Venous malformations ( familial )
9cen McKusick syndrome ( cartilage-hair hypoplasia ) FAC
9q22 Fanconi anaemia
9q22-31 Naevoid basal cell carcinoma syndrome PTC
9q31-33 Rendu-Osler-Weber hereditary telangiectasia Endoglin
9q34 Citrullinemia-pili torti Argininosuccinate synthetase
9q34 Nail-patella syndrome ( osteo-onychodysplasia )
9q34 Tuberous sclerosis Tuberin
9q34 Ehlers-Danlos syndrome I COL5A1
10q11 Multiple endocrine adenomatosis type 2B RET
10q11-21 Hirschsprung's diseas4e ( familial ) RET
10q24-25 Renal-Coloboma syndrome PAX2
10q24-24 Ectrodactyly
10q25-26 Crouzon syndrome ( craniofacial dysostosis ) fibroblast growth factor receptor 2
10q25-26 Apert syndrome fibroblast growth factor receptor 2
10q25-26 Pfeiffer syndrome type 2 fibroblast growth factor receptor 2
10q25-26 Jackson-Weiss syndrome fibroblast growth factor receptor 2
10q26 Gyrate atrophy of choroid and retina Ornithine aminotransferase
10q26 Schizencephaly EMX2
11p15 Beckwith-Weidemann syndrome
11p15 Drash syndrome ( nephritis, pseudohermaphroditism, Wilms' tumor ) WT1
11p13 Aniridia-Wilm's tumor/ WAGR syndrome PAX6 ( aniridia), WT1( Wilm'ss tumor )
11p13 Aniridia, microphthalmia microcephaly PAX6
11p11-12 Mulitiple exostoses ( diaphyeal aclasis ) EXT2
11q13 Usher syndrome ( retinitis pigmentosa, deafness ) myosin VIIA
11q13 Bardet-Biedl syndrome
11q22-23 Louis-Bar syndrome ( ataxia-telangiectasia ) ATM
12p11-13 Jansen metaphyseal dysplasia PTHR
12p11-13? Acrocallosal syndrome
12p11-13 Fibrosis extraocular muscles
12q Rendu-Osler-Weber type 2 ACVRLK1
12q13 Namaqualand hip dysplasia
12q13 Ivemark syndrome Connexin 43
12q13-14 Kniest syndrome COL2A1
12q13-14 Spondyloepiphyseal dysplasia congenita COL2A1
12q13-14 Hypochondrogenesis COL2A1
12q13-14 Achondrogenesis type 2 COL2A1
12q13-14 Stickler syndrome ( hereditary arthro-ophthamopathy)
12q13-14 Lipomatosis ( mulitiple )
12q21-ter Holt-Oram syndrome
12q22 Noonan syndrome
13q22 Hirschsprung's disease EDNRB
13q32-33 Cockayne syndrome XPGC
13q Holoprosencephaly
13q Clouston ectodermal dysplasia
14q32 Usher syndrome ( retinitis pigmentosa, deafness )
15q11 Angelman (" happy pupet ") syndrome
15q11 Prader-Willi syndrome
15q15-21 Ectopia lentis ( isolated ) Fibrillin-1
15q15-21 Marfan syndrome ( severe neonatal ) Fibrillin-1
15q15-21 Marfan syndrome Fibrillin-1
15q23-25 Glutaric aciduria type 2 Electron transfer flavoprotein
15q26 Bloom syndrome RecQ helicase-like gene
16p13 Rubinstein-Taybi syndrome CBP
16p13 Alpha thalassaemia-mental retarddation
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16p13 Tuberous sclerosis Tuberin
16p13 Carbohydrate-deficient glycoprotein syndrome
16q13-22 Bardet-Biedl syndrome
16q22 Richard-Hanhart tyrosinaemia type II Tyrosine aminotransferase
16q24 Fanconi anemia
17p13 Miller-Dieker Lissencephaly
17q11 Neurofibromatosis type 1 Neurofibromin
17q11 Watson syndrome ( café au lait patches, pulmonary stenosis) Neurofibromin
17q12-21 Pachyonychia congenita Keratin 17/ 16
17q21-22 osteogenesis imperfecta type I, II, III
17q21 proximal symphalangism
17q21-22 Ehlers-Danlos syndrome type VIIA1 COL1A1
17q21-22 Meckel-Gruber syndrome
17q24-25 Camptomelic dysplasia SOX9
18p Holoprosencephaly
18p21-22 Osterberg familial expansile osteolysis
19p13 Persistent Mullerian duct syndrome Mullerium inhibition factor
19p13.1 Pseudoachondroplasia COMP
19p11-13 Multiple exostoses ( diaphyseal aclasis )
19q13 Pollitt syndrome DNA helicase
19q13 Multiple epiphyseal dysplasia COL9A2
19q13 Glutaric aciduria type 2 Electron transfer flavoprotein
20p11 Alagille syndrome ( arterio-hepatic dysplasia )
20q13 Albright syndrome ( pseudo- and pseudo-pseudohypoparathyroidism ) G protein  subunit
20q13 McCune-Albright syndrome ( polyostotic fibrous dysplasiaa ) G protein  subunit
20q13 Dwarfism- immunodeficiency type 1 Adenosine deaminase deficiency
20q13 Acromesomelia type Hunter-Thompson CDMP1
20q13 Fanconi anemia Fanconi anemia-1
20q13 Hirschsprung's disease EDN3
21q22 autoimmune polyendocrinopathy-candidosis-ectodermal dysplasia
21q22 homocystinuria cystathione -synthase
21q22 Multiple carboxylase deficiency Biotinidase
21q22 Knoblock-Layer syndrome
22q11 Velo-cardio-facial syndrome
22q11 DiGeorge syndrome
22q11 Optiz-G syndrome
Xpter-22 X-linked ichthyosis Steroid sulphatase
Xp22 aicardi syndrome
Xp22 Optiz-G syndrome
Xp22 Coffin-Lowry syndrome
Xp22 Goltz focal dermal hypoplasia
Xp22 ichthyosis-hypogonadism-mental retardation
Xp22 Kallmann syndrome Kalig-1
Xp22 Microphthalmia-dermal aplasia-sclerocornea
Xp22 Nance-Horan syndrome ( mesiodens, cataract )
Xp22 Spondyloepiphyseal dysplasia tarda
Xp22 Chondrodysplasia punctata ARSE
Xp22 Pyruvate dehydrogenase complex deficiency E1  subunit
Xp21-22 X-linked reticular pigmentary disorder
Xp21-22 Keratosis follicularis, spinulosa decalvans
Xp11 Aarskog syndrome PGDY
Xp11 Norrie disease NDP
Xp11-cen Wilson syndrome ( mental retardation, gynaecomastia, obesity )
Xp11-21 Prieto syndrome ( dysmorphic features, mental retardation )
Xp11-21 Proud syndrome ( mental retardation, seizures, microcephaly, corpus callosum agenesis )
Xp11 Incontinentia pigmenti
Xp21-q21 Hamel syndrome ( mental retardation, congenital heart defects )
Xq11-12 Kennedy's syndrome ( X-linked spinal & bulbar muscular atrophy) Androgen receptor
Xq11-21 Sutherland syndrome ( mental retardation, microcephaly, spastic diplegia )
Xq12-13 Ectodermal dysplasia ( hypohidrotic type )
Xq12-21 Mental retardation-deafness-hypogenitalism
Xq12-21  thalassaemia-mental retardation XNP (XH2)
Xq12-26 X-linked megalocornea
Xq13 Menkes ( kinky hair ) syndrome Copper-transporting ATPase
Xq13-21 Wieacker-Wolff syndrome
Xq21 Cleft palate ( X-linked )
Xq21 Nance syndrome ( stapes fixation with perilymphatic gusher) POU3F4
Xq21 Miles-carpenter syndrome ( mental retardation, fingertip arches, contractures)
Xq21 Allan-Herndon syndrome
Xq21-22 Goldblatt syndrome ( spastic paraplegia, mental retardation, optic atrophy)
Xq21-22 Alport syndrome ( deafness, nephropathy) COL4A5
Xq24-27 Mathias syndrome ( X-linked laterality sequence )

6
Xq25 Lowe ( oculo-cerebro-renal ) syndrome Inisotol polyphosphate-5-Phosphatase
Xq25-26 Thoracoabdominal syndrome
Xq25-27 Simpson-Golabi-Behmel syndrome GPC3
Xq26 Ectrodactyly ( X-linked recessive )
Xq26 Pettigrew syndrome ( mental retardation, Dandy-Walker, basal ganglia disease)
Xq26 Gustavson syndrome ( mental retardation, blindness, seafness, seizures, spasticity )
Xq26-27 Borjeson-Forssman-Lehmann syndrome
Xq26-27 Rosenberg-Chutorian syndrome ( optic atrophy, peroneal muscular atrophy, deafness )
Xq26-27 Ziprkowski syndrome ( partial albinism, deafness )
Xq27-28 Fragile X-linked mental retardation FMR1
Xq27-28 X-linked anophthalmos
Xq27-ter Christian syndrome ( skeletal dysplasia, mental retardation )
Xq28 Adrenoleukodystrophy Peroxisomal membrane protein 70-like gene
Xq28 Conradi chondrodysplasia punctata ( X-linked dominant )
Xq28 Dyskeratosis congenita
Xq28 Taybi ( oto-palato-digital ) syndrome
Xq28 Mental retardation-Aphasia-Shuffling gait-adducted thumbs L1CAM
Xq28 X-linked hydrocephalus L1CAM
Xq28 Incontinentia pigmenti
Xq28-ter Goeminne syndrome ( torticollis, keloids, cryptorchidism )

Frequencies of common genetic disorders

Frequency (PPM ) Inheritance Chromosome position Gene identified
Onset < 25Y
Cystic fibrosis 230 Recessive Yes No
Neurofibromatosis 85 Dominant yes No
Muscle dystrophy 77 X-linked yes yes
Osteodystropy 72 Dominant yes yes
Phenylketouria 69 Recessive yes yes
Hemophilia A 56 X-linked yes yes
Tuberous sclerosis 50 Dominant Yes No
Onset > 25 Y
Hypercholesterolmia 2000 Dominant Yes Yes
Otosclerosis 1000 Dominant No No
Polycystic kidney disease 800 Dominant Yes No
Huntington's disease 400 Dominant yes No
Multiple polyposis coli 100 Dominant yes No
Chromosomal disorders
Trisomy 21 1200
XXX 500
XXY 500
XYY 500
Trisomy 18 76

Known genes relevant to the nervous system and/or causing neurological disease

Disorder Chromosome
Infantile"neuronal ceroid-lipofuscinosis" 1
Charcot-Marie-Tooth 1
Huntington 4
Spinal muscular atrophy 5
Spinocerebellar degeneration 6
Friedreich ataxia 9
Torsion dystonia 9
Ataxia telangiectasia 11
Familial retinoblastoma 13
Juvenile neuronal ceroid-lipofuscinosis 16
Neurofibromatosis I 17
Niemann-Pick type C 18
Myotonic dystrophy 19
Late-onset familiar Alzheimer's disease 19
Early-onset familar Alzheimer's disease 21
Late-infantile neuronal ceroid-lipofusinosis not 1 or 16

Disorders of carbohydrate metabolism

A. Glucose-6-phosphate dehydrogenase deficiency
- X-linked disorder
Disorders of amino acid metabolism
A. Branched-chain amino aciduria ( maple syrup urine disease)
- defective branched-chain amino acid breakdown
- clinical : coma, convulsion, vomiting, respiratory failure in neonate
B. Branched-chain organic acidurias
7
 - failure of organic acid oxidation - isovaleric, methylmalonic, propionic, etc
- clinical : similar to above, may be metabolic acidemia and odd oder. Often confused with sepsis of newborn. Urine contains
excessive amounts of different organic acids, depending on the nature of the defect. Partial defects may present in later
infancy or childhood.
C. Glutaric acidurias
- Type 1: primary defect of glutarate oxidation
- Clinical : severe basal ganglia/cerebellar disease with macrocephaly. Onset : 1-2 years
- Type II : defect of electron transfer flavoprotein (ETF)
- Clinical : fulminant neurologic syndrome of the neonate. Often with renal/hepatic cysts. Usually fetal.
D. Phenylketouria ( PKU )苯酮尿症
- PKU was the 1st hereditary amino acid metabolic disorder found to cause mental retardation, and is among the most common
of the amino acid disorders
- Usually defect of phenylalanine OHase ( polymorphism ); In rare cases, defect of biopterin metabolism
- Clinical : normal at birth. Mental retardtion in untreated children.
- To prevent the teratogenic effect, it necessary to start the low-phenylalanine dietary treatment before conception.
E. Non-ketotic hyperglycinemia
- Defect of the glycine cleavage system
- Clinical : intractable seizures in neonate,. usually fatal in first few weeks of life.
F. Homocystinuria 高胱氨酸尿
- Usually a failure of cystathionine synthase, rarely associated with aberrant Vit B12 metabolism
- Clinical : Thromboembolic diathesis, marfanoid habitus, ectopia lentis. Mental retardation id frequent.
G. Urea cycle defects
- Failure to convert ammonia to urea via urea cycle
- Clinical : coma, convulsions, vomiting, respiratory failure in neonate. Often mistaken for sepsis of the newborn. Mental
retardation, failure to thrive, lethargy, ataxia, and coma in the older child. Associated with hyperammonemia and
abnormalities of blood aminogram.
H. Defects of biotin metabolism
- Failure to "activate" biotin, which is important in carboxylation of organic acids
- Clinical : coma, convulsions, vomiting, respiratory failure in neonate. Often mistaken for sepsis of the newborn. Mental
retardation and deafness in older child.
I. Disorder of glutathione metabolism
- defective synthesis of glutathione, the major intracellular anti-oxidant
- Clinical : spinocerebellar degeneration, mental retardation, cataracts, hemolysis. Severe acidosis in some cases.
J. Disorder of GABA metabolism
- often an absence of succinic semialdehyde dehydrogenase
- Clinical : hypotonia, ataxia, mental retardation in older child. Increase urine 4-OH-butyric acid
K. Canavan's disease
- absence of N-acetylasparate acylase
- rapidly progressive demyelinating disease of infancy.

Thalassemia 地中海型貧血
- one type of hemoglobinopathies
- -thalassemia results from a deficiency of -globin chain synthesis; the most common cause is a series of gene deletions.
+-Thalassemia results from either a 3.7 kilobase deletion or a 4.2 kB deletion, both of which remove one of the 2 -globin
genes on chromosome 16.

Hypoxanthine guanine phosphoribosyltranaferase (HPRT ) mutantion

- is a single amino acid substitution ; ser- to leu substitution at position 109 ( codon for Arg109 changed from UCA to UUA) called
HPRT London ; arg- to gly substitution at position 50 ( codon for Arg50 changed from CGA to GGA) called HPRT Toronto
- Lesch-Nyhan syndrome : complete deficiency of HPRT activity
- partial enzyme deficiency in severe gout with hyperuricemia
- HPRT (native state ) coded by a single X-linked gene locus in human, as a tetramer. ( each subunit is 217 aa, MW. 24,470)

Teratogens
A. Drugs
1. Thalidomide: phocomelia, amelia, defects of the radius & abnormalities of the ear involving at least 8000 malformed children in 28 countries
Weicker VH, Bachmann KD, Pfeiffer RA & Gliess J. Thalidomide embryopathie. Gtsch Med Wochenschr. 87 :1597-1607, 1962
Lenz W & Knapp K. Thalidomide embryopathy. Arch Environ Health. 5:100-105, 1962
McBride WG. The teratogenic action of drugs. Med J Aust. 2:689-693, 1963
2. Progestins: masculinization of the female fetus, clitoral enlargement, lumbosacral fusion, VACTEL anomalies
Zander J & Muller HA. Uber die methylandrostenediol behandlung wahrend einer schwangerschaft. Geburtshilfe Fraundeilkd 13:216-222, 1953
Jacobson BD. Hazards of norethindrone therapy during pregnancy. Am J Obstet Gynecol. 84:962-968, 1962
Schardein JL. Congenital abnormalities and hormones during pregnancy: a clinical review. Teratology 22: 251-270, 1980
3. Corticosteroids : malpositioned kidney, decrease birth weight, increased anternatal death rate, electrolyte imbalance, increased lung maturity, increased risk of
infection, cleft plate, skelatal abnormalities
4. Tetracycline: tooth discoloration, enamel hypoplasia, retardation in bone growth.
Rendle-Short TJ. Teracycline in teeth and bone. Lancet i:1188, 1962
8
 Harcourt JK, Johnson NW,& Storey E. In vivo incorporation of tetracycline in the teeth of man. Arch Oral Biol. 7:431-437, 1962
Genot MT, Golan HP, Porter PJ & Kass EH. Effect of administration of tetracycline in pregnancy on the primary dentition of the offspring. J Oral Med. 25:75-79, 1970
5. Streptomycin : congenital nerve deafness
6. Sulphonamides : Met-Hb, hemorrhage, anemia, jaundice
7. Chloramphenicol : increased risk of "gray-baby" syndrome, cleft lip, cleft palate
8. Mitomycin C : defects of palate, skeleton, and brain
9. Griseofulvin : skeletal anormalies, eye defects, CNS dysfunction.
10. Aminopterin ( antagonist of folic acid for therapeutic abortion in tuberculosis-infected women ): Cranial dysplasia, broad nasal bridge, low-set ears, multiple gross
anomalies, fetal death, growth retardation, renal anomalies
Thiersch JB. Therapeutic abortions with a folic acid antagonist, 4-aminopteroylglutamic acid ( 4-amino P.G.A.) administered by the oral route. Am J Obstet
Gynecol. 63: 1298-1304, 1952
Goetsch C. An evaluation of aminopterin as an abortifacient. Am J Obstet Gynecol. 83: 1474-1477, 1962
11. Tolbutamide : fetal death, failure to thrive, apnoieic spells
12. Acetazolamide : electrolyte imbalance, hemological changes, forelimb defects.
13. Furosemide : delay in renal maturation
14. Amantidine : single ventricle, pulmonary atresia, skeletal anormalies
15. Methotrexate : absence of the frontal bones, cranial synostosis, rib & digit anormalies, abortion, postnatal growth retardation.
16. 5-Fluorouracil : abortion, craniofacial abnormalities
17. Cyclophosphamide : digital defects, flattened nasal bridge, ectrodactyly, palatal anormalies, single coronary artery, bone marrow supression.
18. Vincristine : small, positioned kidney, eye defects, cranial abnormalities,
19. Androgens : masculinzation of the female uterus
20. Diethylstibestrol: cervical adenosis, vaginal adenocarcinoma, penile abnormalities, epididymal cysts, hypotrophic testes, hypoplastic uterus, cervical gross defects.
Herbst AL, Ulfelder H & Poskanzer DC. Adenocarcinoma of the vagina: Association of maternal stibestrol therapy with tumor appearance in young women. N Engl
J Med. 284:878-881, 1971
Herbst AL, Robboy SJ, Scully RE & Poskanzer DC. Clear-cell adenocarcinoma of the vagina and cervix in girls: An analysis of 170 registry cases. Am J Obstet
Gynecol. 119:713-724, 1974.
Herbst AL, Poskanzer DC, Robboy SJ, Friedlander L, & Scully RE. Prenatal exposure to stibestrol. A prospective comparison of exposed female offspring with
unexposed controls. N Engl J Med. 292:334-339, 1975
Greenwald P, Barlow JJ, Nasca PC, & Burnett WS. Vaginal cancer after maternal treatment with synthetic estrogens. N Engl J Med. 285:390-392, 1971
21. Ethinyl oestradiol : VACTEL anomalies, congenital heart defects, ferminization of male fetus, trunco-conal great vessel malformation
22. Carbamazepine ( Tegretol ) : neural tube defects, decrease head circumference, myelomeningocele (?)
Rosa FW. Spina bifida in infants of women treated with carbamazepine during pregnancy. N Engl J Med 324:674-576, 1991
23. Chlordiazepoxide : newborn withdrawal
24. Diazepam : "Floppy" infant syndrome, newborn behavior abnormalities, cleft lip and palate ( ? )
25. Imipramine : respiratory difficulties, irritability, feeding difficulty, urinary retention, limb abnormalies, encephaly, profuse sweating, skeletal anormalies.
26. Meprobamate : congenital heart disease, withdrawal symptoms, malformed diaphragm, behavior abnormalities.
27. Haloperidol : extrapyramidal dysfunction, neonatal CNS depression, congenital malformations (?), GI dysfunction, curled toe, intrauterine growth
retardation
28. Halothane : neonatal inability to habituate to auditory stimuli
29. Mepivacaine : fetal bradycardia
30. Phenobarbital : Acute : decrease hearing capacity, CNS depression, decrease incidence of neonatal hyperbilirubinemia, hemorrhage, anemia.
Chronic : infant withdrawal syndrome : craniofacial abnormalities, limb abnormalities, mental and growth deficiency, Congenital heart disease and hernias,
coagulation defects, neonatal hemorrhage
31. Cimetidine : sexual dysfunction
32. Reserpine : nasal congestion and discharge, lethargy, hypothermia, bradycardia.
33. Scopolamine : Lethargy, tachycardia, fever, respiratory depression.
34. Atropine :tachycardia, dilated non-reactive pupils, skeletal anormalies, cytolytic effect on barin
35. Phenytoin : (11/104) , IUGR, microcephaly, mental & motor retardation, facial dysmorphology (bowed upper lip ), limb abnormalities, congenital heart defects
( pulmonic stenosis, aortic stenosis, coarctation, patent ductus arteriosus ), hernias (diaphragmatic or inguinal ), GU abnormalities, abnormal genitalia ( fetal
hydantoin syndrome )
Hanson JW, Myrianthopoulos NC, Sedgwick MA, Harvey MA, & Smith DW. Risks to the offspring of women treated with hydantoin anticonvulsants, with emphasis
on the fetal hydantoin syndrome. J Pediatr. 89: 662, 1976
36. Trimethadione : spontaneous abortion; IUGR, mental retardation, developmental delay, facial dysmorphology (V shaped eyebrows and low ears ),
congenital heart defects, T-E anomalies, hypospadias, inguinal hernias, assorted GI & GU defects
- the most potent teratogen among the anticonvulsants ( 83% )
Feldman GL, Weaver DD, & Lovrien EW. The fetal trimethadione syndrome. Am J Dis Child 131:1389, 1977
37. Valproic acid : Craniofacial abnormalities, Lumbeosacral spina bifida with meningomyelocele, congenital heart defects, long thin fingers and toes, hyperconvex
fingernials, claft lip.
- valproic acid causes neural tube defects, including exencephaly, in mice and spina bifida in humans.
- valproic acid lower the intracellular pH of the embtyonic cells, especially early in development.
Fabro S, Brown NA, Scialli AR. Vaproic acid and birth defects. Report Toxicol 2: 9-11, 1983
Dalessio DJ. Seizure disorders during pregnancy. N Engl J Med. 312:559, 1985
38. Retinoic acid ( excess): exencephaly, neural tube defects, GU abnormalities
13-cis-retinoic acid ( Accutane ) : for the severe cyctic acne since 1982 ; 59 fetuses, 26 were born normally, 12 aborted spontaneously, and 21 were born with
obvious malformations ( characteristics pattern of abnormalities , including absent or defective ears, absent or small jaws, cleft palate, aortic arch abnormalities,
thymic deficiencies, and abnormalities of the CNS)
** alter the expression of the Hox gene and thereby respecify portions of the anterior-posterior axis and inhibit neural crest cell migration from the cranial region of
the neural tube. Radioactively labeled retinoic acid binds to the cranial neural crest cells and arrests both their proliferation and their migration.
The teratogenic effect is confined to a specific developmental period ( days 8-10 in mice, day 20-35 in humans )
Koren G. Retinoic acid embryopathy. N Eng J Med 315:262, 1986
39. Etretinate: exencephaly, craniofacial defects, cleft palate, skeletal defects
40. Isotretinoin ( Accutane, for cystic acne since 1982 ): craniofacial, cardiac, thymic and CNS abnormalities, deafness
Lammer EJ, Chen DT, Hoar RM, Agnish ND, Benke PJ, Braun JT, Curry CJ, Ferngoff PM, Grix AW, Jr Lott IT, Richard JM & Sun SC. Retinoic acid embryopathy. N
Engl J Med. 313:837-841, 1985.
41. Warfarin ( Coumadin ): nasal hypoplasia, epiphyseal stippling, optic atropy, cataracts
42. Quinine: mental retardation, ototoxicity , congenital glaucoma, GU abnormal, fetal death, anemia
43. Chloroquine : ototoxicity
44. Propranolol : hypoglycemia, bradycardia,apnea, prolonged labour, hypocalcemia, IUG retardation
45. Indomethacin : neonatal pulmonary hypertension, disturbed cardiopulmonary adaptation, cleft lip and palate, infant death
** Nicotine and cocaine have not been proved to cause congenital anormalies.

9
Developmental neurotoxicity :
Na glutamate and asparate : hypothalamic and retina lesion , reduction in GHin neonatal
Ethanol :

B. Physiological dysfunction
1. Hyperphenylalanineemia : intrauterine growth retardation, microcephaly, congenital heart defects
{ phenylalanine-restricted diet started before conception}
Lenke RR & Levy HL. Maternal phenylketouria and hyperphenylalaninemia: An international survey of the outcome of untreated and treated
pregnancies. N Engl J Med. 202:1202-1208, 1980
2. Iodine deficiency: Cretinism, cerebral palsy, motor & mental retardation
Pharoah POD, Buttfield IH & Hetzel Bs. Neurological damage to the fetus resulting from severe iodine deficiency during pregnancy. Lancet
i:308-310, 1971
Hetzel BS & Pharoah POD. Endemic Cretinism . Institute of Human Biology, Papua, New Guinea, Monograph Series No.2 1971
Pharoah POD, Delange F, Fierro-Benitez R, & Stanbury JB. Endemic cretinism. in JB Stanbury & BS Hetzel eds. Endemic Goiter and Endemic
Cretinism: Iodine Nutrition in Health and Disease. John Wiley & Sons, New York, pp. 395-421.1980
3. Starvation: intrauterine growth retardation
Smith CA. Effect of wartime starvation in Holland on pregnancy and its products. Am J Obstet Gynecol. 53:599-608,1947
Antonov AN. Children born during siege of Leningard in 1942. J Pediatr. 30:250-259,1947
Stein Z, Susser M, Saenger G & Marolla F. Famine and Human Development: The Dutch Hunger Winter of 1944- 45, Oxford University Press,
New York.1975
4. Diabetes : multiple malformations ( limb, cardiac & neural tube defects), growth and metabolic disorders
Bennett PH, Webner C & Miller M. Congenital anormalies and diabetic and prediabetic pregnancy. In Pregnancy Metabolism, Diabetres and the
Fetus. Elsevier/North-Holland, pp. 207-225, 1979
Mills JL. Malformations in infants of diabetic mothers. Teratology 25: 385-394, 1982
Pettit DJ & Bennett PH. Long-term outcome of infants of diabetic mother . In EA Reece & D Coustan. eds Diabetes Mellitus in Pregnancy: Principles
and Practice. Churchill Livingstone, New York, pp 559-571, 1988
C. Physical environment
1. Irradiation : microcephaly, mental retardation
On Mar 28, 1979, the worst accident in the history of U.S. commercial nuclear power generation occurred on Three Mile Island in
Pennsylvania, and released the radionuclides 131I, 133Xe, and 135Xe into the environment. On Apr. 26, 1986, an axplosion occurred at the
water-cooled, graphite-moderated reactor of Unit No.4 at Chernobyl power station along the Pripyat River, about 90 km north of Kiev, Ukraine,
and release of an estimated 1 x106 to 2 x 106 TBq of radioactivity during the first 10 days and was the most costly industrial accident in
history. In the former Soviet Union, approximately 500,000 people were contaminated by radiation immediately, and as many as 8000 people
may have died as a result of cancer and other radiation-related illness.
National Research Council, Committee on Biological Effects of Ionizing Radiations (BEIR). The Effects on Populations of Exposure to Low
Levels of Ionizing Radiation . National Academy Press, Washington DC. pp. 482-485, 1980
2. polychlorinated biphenyls ( PCB) excess: stained skin, gingiva & nails, conjunctival hypersecretion
Mechanism : 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) produced cleft palate, and hydronephrosis at higher doses, in susceptible mouse
strains. The putative mechanism for the induced cleft palate is that TCDD binds to certain epideral growth factor receptors and prevents the
normal reduction in expression of certain EGFs in the medial epithelial cells of the palatal shelves just prior to fusion.
Abbott BD, and Birnbaum LS. TCDD-induced altered expression of growth factors may have a role in producing cleft palate and enhancing the
incidence of clefts after co-administration of retinoid and TCDD. Toxicol Appl Pharmacol. 106:418-432, 1990
Miller RW. Cola-colored babies. Chlorobiphenyl poisoning in Japan. Teratology 4:211-212,1971
Rogan WJ. PCBs and cola-colored babies: Japan 1968 and Taiwan 1979. Teratology 26:259-261,1982
Rogan WJ, Gladen BC, Kun-Long H, Koong SL, Shih LY, Taylor JS, Wu YC, Yang D, Ragan B, Hsu CC. Congenital poisoning by
polychlorinated biphenyls and their contaminants in Taiwan. Science 241:334-336, 1988
3. Methylmercury excess: Minamata disease
Harada Y. Congenital ( or fetal) Minamata disease. In Minamata Disease. Study Group Of Minamata Disease, Kumamoto University, Japan ,
pp.93-117, 1968
Amin-Zaki L, Majeed MA, Elhassani SB, Clarkson TW, Greenwood MR & Doherty RA. Prenatal methylmercury poisoning: Clinical observations
over five years. Am J Dis Child. 133:172-177, 1979.
Harda M. Congenital Minamata disease: Intrauterine methyl mercury poisoning. Teratology 18:285-288, 1978
4. Carbon monooxide (excess): cerebral atropy, mental retardation, microcephaly, convulsion, saptic disorders, intrauterine or postnatal death
{ 100 % oxygen for 5 hr, hyperbaric chamber }
Longo LD. The biological effects of carbon monooxide on the pregnant woman, fetus and newborn infant. Am J Obstet Gynecol 129: 69-103, 1977
D. Substance voluntarily ingested or inspired
1. Cigarette smoking : intrauterine growth retardation
Simpson WJ. A preliminary report of cigarette smoking and incidence of prematurity. Am J Obstet Gynecol 73:808-815, 1957
US Publlic Health Service. The Health Consequences of Smoking. A report of the Surgeon General. US Department of Health, Education and Welfare, DHEW
Publication No. (HSM) 71-7513, PP. 389-407, 1971
Abel EL. Smoking during pregnancy: A review of effects on growth and development of offspring. Hum Biol. 52:593-625,1980
2. Alcohol : IUGR, microcephaly, mild facial dysmorphism ( smooth philtrum ), fetal alcohol syndrome ( usually dysmorphic facies
( thin upper lip ), growth & mental retardation: CNS involvement), CV ( ventricular septal defect )
Lemonine P, Harousseau H, Borteyru JP & Menuet JC. Les enfants de parents alcooliques. Anomalies observees. A propos de 127 cas. Quest Medical
21:476-482.1968
Abel EL. Fetal Alcohol Syndrome and Fetal Alcohol Effects. Plenum Press, New York.1984
Rosett HZ, Weiner L. Alcohol and the fetus. Oxfords University Press, New York, 1984
Vitez M, Korany G, Gonczy E, Rudas T & Czeizel A. A semiquantitative score system for epidemiologic studies of fetal alcohol syndrome. Am J Epidemiol
119:3001-308,1984
Ernhart CB, Wolf AW, Linn PL, Sokol RJ, Kennard MJ & Filipovich HF. Alcohol-related birth defects: Syndromal anomalies, intrauterine growth retardation, and
neonatal behavioral assessment. Alcoholism 9:447-453, 1985
3. Toluene : intrauterine growth retardation, congenital anormalies, CNS dysfunction
10
 4. Xylene : congenital malformations, stillbirth, sacral agenesis.
5. Styrene oxide : reduced fetal weight, congenital malformations.
6. Benzene : spontaneous abortion, stillbirth, congenital anormalies.
7. Cadmium : congenital anormalies, growth retardation
8. Lead : neurological deficits, spontaneous abortion, stillbirth, neonatal mortality
E. Meternal infection
1. Syphilis 梅毒: induces congenital deafness and mental retardation
Hutchinson J. Syphilis. Lea Brothers and Company, Philadelphia,1887
Ingall D & Norins L. Syphilis. In JS Remington & JO Klein (eds) Infectious Diseases of the Fetus and Newborn Infant. WB Saunders Co.,
Philadelphia, pp. 414-463, 1983
2. Rubella ( German Measles, togavirus family)德國麻疹: rubella infection during the first third of their pregnancy had a 1/6 of given birth
an infant with congenital heart disease ( ductus arteriosus 永久性動脈導管, intraventricular septal defect 心室中膈缺損 &
pulmonic stenosis ), eye lesions ( corneal clouding, cataracts 白內障, chorioretinitis, and microphthalmia 小眼), microcephaly,
mental retardation, and deafness 內耳畸形造成之先天耳聾 in Australia 1941, USA 1964.
* the first 5 weeks appear the most critical.
在懷孕的第六週感染會造成白內障﹔第九週感染則引起耳聾﹔第五週至第十週感染易形成心臟缺陷﹔牙齒畸形則發生
於第六週至第九週的感染﹔中樞神經異常發生於妊娠的第二期(有些要到 2 至 4 歲才表現出來)。
* the rubella epidemic of 1963-65 probably resulted in about 20,000 fetal deaths, and 30,000 infants with birth defects in U.S.
Gregg NW. Congenital cataract following German measles in the mother. Trans Ophthal Soc Aust. 3: 35-46, 1941
Aford CA & Griffiths PD. Rubella. In Infectious Disease of the Fetus and Newborn Infants. JS Remington & JO Klein (eds), WB Saunders,
Philadelphia, pp 69-103 1983
3. Cytomegalovirus 巨細胞包涵體病毒: sensory & mental deficit ( blind, deaf, cerebral palsy, & mental retardation )
- the most common intrauterine infection ( 0.4-2.3% ), no vaccine is as yet available.
- Infection of early embryos is nearly always fatal
Reynolds DW, Stagno S, Stubbs KG, Dahle AJ, Livingston MM, Saxon SS & Alford CA. In apparent congenital cytomegalovirus infection with
elevated cord IgM levels: Causal relation with auditory and mental deficiency. N Engl J Med 290: 291-296, 1974
Hansahaw JB, Scheiner AP, Moxley AW, Gaev L, Abel V, & Scheiner B. School failure and deafness after " silent" congenital cytomegalovirus
infections. N Engl J Med. 295:468-470,1976
Hanshaw JB. Cytomegalovirus. In In JS Remington & JO Klein (eds) Infectious Diseases of the Fetus and Newborn Infant. WB Saunders Co.,
Philadelphia, pp. 104-142, 1983
4. Toxoplasmosis 弓型屬漿原蟲病( 1.1/1000 ): hydrocephalus, chorioretinitis 脈絡視網膜炎, cerebral calcification { pyrimethamine,
sufadiazine, and spiromycin }
Eichenwald HF. A study of congenital toxoplasmosis with particular emphasis on clinical manifestations, sequelae,and therapy. In JC Siim (ed)
Human Toxoplasmosis . vol 2, Munksgaard, Copenhagen,1959
Koppe JG, Kloostermann GJ, de Roever-Bonnet H, Eckert-Stroink JA, Loewer-Sieger DH & de Bruijne JI.Toxoplasmosis and pregnancy, with a
long-term follow-up of the children. Eurp J Obstet Gynaecol 4:101- 110,1974.
Koppe JG, Loewer-Sieger DH & de Roever-Bonnet H. Results of 20-year follow-up of congenital toxoplasmosis. Lancet i:254-255,1986
5. Human immunodeficiency virus (HIV): immunodeficiency syndrome, neurologic impairment
- 20-50% risk of perinatal transmission
Morbidity and Mortality Weekly Report (MMWR). Unexplained immunodeficiency and opportunistic infections in infants-New York, New Jersey,California 31:665-666,
1982
Marion RW, Wiznia AA, Hutcheon RG & Rubinstein A. Human T-cell lymphocyte virus type III ( HTLV-III) embropathy. Am J Dis Child 140:638-640, 1986
LeJeune J, Gautier M, Turpin R. Etude des chromosomes somatique de neuf enfants mongoliens. CR Acad Sci ( Paris)248:1720, 1959.
Siegel M, Grunberg M. Fetal death, malformation and prematurity after maternal rubella, results of prospective study, 1949-1958. N Engl J Med. 262:389, 1960
Brock DJH, Sutcliffe RG. Alpha-fetoprotein in the antenatal diagnosis of anencephaly and spina bifida. Lancet 2:197, 1972.
Kandel E, Schwartz JH. Principle of Neuroscience, 2nd ed. Elsevier, New York; 1985.
Milunsky A. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. Plenum Press, New York, 1986.
Beckman DA, Brent RL. Mechanism of known environmental teratogens: Drugs and chemicals. Clin Perinatal 13:649, 1986
Wald NJ, Cuckle HS, Densem JW, Nanchahal K, Royston P, Chard T, Haddow JE, Knight GJ, Polamaki GE & Canick JA. Maternal serum screening for Down
syndrome in early pregnancy. Br J Med. 297:883- 887, 1988
Scriver CR, Beaudet AL, Sly WS, Valle D. The Metabolic Basis of Inherited Disease. 6th ed. McGraw-Hill, New York, 1989
Creasy RK & Resnik R. Maternal-fetal Medicine WB Saunders, Philadelphia, 1989
Sadler TW. Langman's Medical Embryology. 6th ed. Williams & Wilkins, New York, 1990
Filkins K & Russo JF. Human Prenatal Diagnosis ( 2nd ed). Marcel Dekker, New York,1990.
Thompson MW, McInnes RR & Willard HF. Genetics in Medicine. WB Saunders, Philadelphia, 1991
Golbus MS: Invited editorial. Prenat Diag 12:313, 1992.

Rare Diseases List

An orphan or rare disease is one with a prevalence of no more than 200,000 affected individuals in the USA. Certain diseases with
more than 200,000 affected individuals are included but subpopulations of these conditions do meet the definition of a rare
disorder. .

5-Oxoprolinuria : a metabolic disorder characterized by excretion of massive amounts of 5-oxoproline (pyroglutamic acid) in the urine caused by a congenital (inborn)
deficiency of the enzyme glutathione synthetase. The error in glutathione metabolism is responsible for the abnormally high levels of this acid in the blood, cerebrospinal
fluid and body tissue (metabolic acidosis). Central nervous system function is impaired.
A
Aarskog Syndrome : an extremely rare genetic disorder marked by distinctive structural abnormalities. Major symptoms may include stunted growth, broad facial
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 features, short broad hands and feet, genital abnormalities, and mild mental retardation.
Aase Syndrome : a rare congenital disorder characterized by low levels of red blood cells (hypoplastic anemia) accompanied by the presence of an extra bone and joint
in the thumb (triphalangeal thumb). Other abnormalities may also occur.
Ablepharon Macrostomia Syndrome : an extremely rare inherited disorder characterized by various physical abnormalities affecting the head and facial
(craniofacial) area, the skin, the fingers, and the genitals. In addition, affected individuals may have malformations of the nipples and the abdominal wall. Infants and
children with AMS may also experience delays in language development and, in some cases, mental retardation. In infants with Ablepharon-Macrostomia Syndrome,
characteristic craniofacial features may include absence or severe underdevelopment of the upper and lower eyelids (ablepharon or microblepharon) as well as absence
of eyelashes and eyebrows; an unusually wide, "fish-like" mouth (macrostomia); and/or incompletely developed (rudimentary), low-set ears (pinnae). Abnormalities of
the eyes may occur due to or in association with ablepharon or microblepharon. Individuals with AMS may also have additional characteristic features including
abnormally sparse, thin hair; coarse, dry, unusually thickened skin with excess (redundant) folds; webbed fingers with limited extension; and/or malformations of the
external genitals. In some cases, additional features associated with AMS may include absent or abnormally small (hypoplastic) nipples and/or protrusion of portions of
the large intestine through an abnormal opening in the abdominal wall (abdominal or ventral hernia). Although the exact cause of Ablepharon-Macrostomia Syndrome is
not fully understood, some cases suggest that the disorder may be inherited as an autosomal recessive genetic trait.
Acanthocheilonemiasis 棘唇絲蟲病 : a rare tropical infectious disease caused by a parasite known as Acanthocheilonema perstans, which belongs to a group of
parasitic diseases known as filarial diseases (nematode). This parasite is found, for the most part, in Africa. Symptoms of infection may include red, itchy skin (pruritis),
abdominal and chest pain, muscular pain (myalgia), and areas of localized swelling (edema). In addition, the liver and spleen may become abnormally enlarged
(hepatosplenomegaly). Laboratory testing may also reveal abnormally elevated levels of certain specialized white blood cells (eosinophilia). The parasite is transmitted
through the bite of small flies (A. coliroides).
Achalasia( 弛緩不能) : a rare disorder of the esophagus characterized by the abnormal enlargement of the esophagus, impairment of the ability of the esophagus to
push food down toward the stomach (peristalsis), and the failure of the ring-shaped muscle (sphincter) at the bottom of the esophagus to relax.
Acanthocytosis 棘細胞症: a digestive disorder that is characterized by the absence of very low density lipoproteins (VLDL) and chylomicrons in the plasma.
Chylomicrons are very small fatty droplets that are covered with a beta-lipoprotein and perform an essential function in fat transport in the blood and, thus, in fat
metabolism. The absense of VLDL and of chylomicrons interferes with the absorption of fat and leads to excessive fats excretion (steatorrhea). Other symptoms
include abnormal red blood cells (acanthocytes), a vision disorder (retinitis pigmentosa), and impaired muscle coordination (ataxia).
Acanthosis Nigricans : a rare skin disorder characterized by skin lesions that become thick (hyperkeratotic) and have a brownish-gray color (hyperpigmentation). Four
types of Acanthosis Nigricans are recognized. Miescher Syndrome is an inherited benign form of Acanthosis Nigricans. Gougerot-Carteaud Syndrome is a benign,
possibly inherited form of the disease that usually occurs in young adult females. Pseudoacanthosis Nigricans is a benign juvenile form that is associated with obesity
and/or endocrine disorders. An adult form of Acanthosis Nigricans, known as Malignant Acanthosis, is frequently associated with cancer in another part of the body.
Achard-Thiers syndrome 婦女多毛症併發之糖尿病 : a rare disorder that affects postmenopausal women and is characterized by diabetes and the
development of secondary male sexual traits (virilization). Symptoms develop due to the overproduction of male hormones (androgens) and other adrenocortical
hormones (i.e., 11-oxysteroid) by the adrenal glands. If Achard-Thiers Syndrome is not treated, complications may occur including abnormally high blood pressure and
heart disease.
Achondrogenesis 軟骨新生異常 : a very rare disorder characterized by extreme short limbed dwarfism, lack of development of ribs and other major bone
formation. The head is usually shaped in a normal way (normocephaly) but may be unusually soft depending on the type of Achondrogenesis involved. There are several
different types of Achondrogenesis, some of which may be life-threatening either in the womb (in utero) or shortly after birth. Achondrogenesis can be inherited as an
autosomal or dominant recessive genetic trait.
Achondroplasia 軟骨發育不全 : a rare genetic disorder characterized by an unusually large head (macrocephaly) with a prominent forehead (frontal bossing)
and flat (depressed) nasal bridge; short upper arms and legs (rhizomelic dwarfism); unusually prominent abdomen and buttocks; and short hands with fingers that
assume a "trident" or three-pronged position during extension. An autosomal dominant genetic trait, Achondroplasia occurs as a result of a fresh (new) spontaneous
change (mutation) in genetic material in about 90 percent of cases. In Achondroplasia, affected individuals have impaired ability to form bone from cartilage
(endochondral bone formation).
Acidemia, Isovaleric 異戊酸血症: a hereditary metabolic disorder. It is characterized by a deficiency of the enzyme isovaleryl CoA dehydrogenase. The disorder
occurs in both an acute and a chronic intermittent form. In the acute form of Isovaleric Acidemia, vomiting, refusal to eat, and listlessness usually occur. With treatment
and low protein diet, the disorder becomes chronically intermittent, and a nearly normal life is possible.
Acidemia, Methylmalonic 甲基丙二酸血症: one type of organic acidemia. All known organic acidemias are inherited as autosomal recessive traits. They are
caused by an enzymatic defect in the metabolism of one amino acid. This results in an abnormally high level of acid in the blood and body tissues and concomitant
metabolic acidosis. Acutely, drowsiness, coma, and seizures may occur. Mental retardation is a long-term consequence. The disorders may be caused either by a
deficiency of the enzyme methylmalonyl CoA mutase, methylmalonyl racemase, or of adenosylcobalamin synthetic enzymes. Excretion of methylmalonate, a product of
amino acid metabolism, in the urine is abnormally high.
Acidemia, Propionic 丙酸血症 : a rare metabolic disorder characterized by deficiency of propionyl CoA carboxylase, an enzyme involved in the breakdown
(catabolism) of the chemical "building blocks" (amino acids) of certain proteins. Symptoms most commonly become apparent during the first weeks of life and may
include abnormally diminished muscle tone (hypotonia), poor feeding, vomiting, listlessness (lethargy), excessive loss of fluids from bodily tissues (dehydration), and
episodes of uncontrolled electrical activity in the brain (seizures). Without appropriate treatment, coma and potentially life-threatening complications may result. In rare
cases, the condition may become apparent later during infancy and may be associated with less severe symptoms and findings. Propionic Acidemia is inherited as an
autosomal recessive trait.
Acne rosacea 酒糟鼻 : a skin disorder limited to the nose, cheeks, chin, and forehead, typically beginning during adulthood. The facial skin becomes oily, reddened
and bumpy. Small red blood vessels are visible. In extreme cases, the nose may appear very red and bulbous.
Acoustic neuroma 聽覺神經瘤 : a benign (noncancerous) tumor of the 8th cranial nerve. This nerve lies within the ear (auditory) canal, and is associated with
hearing loss and sending balance information from the inner ear to the brain.
Acrocallosal syndrome, Schinzel type : a very rare disorder inherited as an autosomal recessive genetic trait and characterized by: craniofacial abnormalities,
absence or underdevelopment of the mass of white matter that unites the two halves of the brain (corpus callosum), additional fingers and/or toes (polydactyly), loss of
muscle tone (hypotonia), and mental retardation.
Acrodermatitis 肢端皮膚炎
Acrodermatitis enteropathica 腸病性肢端皮膚炎: in two forms: an inborn (congenital) form and an acquired form. The inborn form of AE is a rare genetic
disorder characterized by intestinal abnormalities. Skin inflammation with pimples (pustular dermatitis) occurs around the mouth and/or anus, the nails (paronychial), and
eyes. In the acute phase, irritability and emotional disturbances are evident due to wasting (atrophy) of the brain cortex.
Similar symptoms can be caused by special intravenous nutritional programs, for patients who cannot eat, which are almost always devoid of zinc. This is sometimes
referred to as an acquired form of AE.
Acrodysostosis 四肢發育不全 : an extremely rare disorder characterized by abnormally short and malformed bones of the hands and feet (peripheral dysostosis),
underdevelopment of the nose (nasal hypoplasia), and mental retardation. Other findings may include progressive growth delays, short stature, and/or unusual head and
facial (craniofacial) features. Affected infants may exhibit premature maturation of bones of the hands and feet, malformation and shortening of the forearm bones
(radius and ulna) near the wrist, and/or abnormally short fingers and toes (brachydactyly). Characteristic facial features may include a flattened, underdeveloped
(hypoplastic) "pug" nose, an underdeveloped upper jaw bone (maxilliary hypoplasia), widely spaced eyes (ocular hypertelorism), and/or an extra fold of skin on either
side of the nose that may cover the eyes' inner corners (epicanthal folds). In most cases, Acrodysostosis is thought to occur randomly, for no apparent reason (sporadic).
Some researchers believe that, in some cases, Acrodysostosis may be a form of Albright Hereditary Osteodystrophy (pseudohypoparathyroidism) in which normal calcium
12
 levels are present in the body (normocalcemic).
Acromegaly 肢端肥大症 : a rare, slowly progressive chronic disorder characterized by an excess of growth hormone. Symptoms include abnormal enlargement in
bones of the arms, legs, and head. The bones in the jaws and in the front of the skull are typically the most affected. Acromegaly may also cause thickening of the soft
tissues of the body, particularly the heart and accelerated growth leading to tall stature
Acromesomelic Dysplasia : an extremely rare inherited progressive disorder characterized by premature fusion of the regions (metaphyses) where the shafts
(diaphyses) of certain long bones (i.e., bones of the arms and legs) meet their growing ends (epiphyses). As a result, affected individuals exhibit unusually short
forearms, abnormal shortening of bones of the lower (distal) legs, and short stature (short-limbed dwarfism), findings that typically become apparent during the first years
of life. Abnormal cartilage and bone development may also affect other bones of the body, particularly those of the hands and feet (i.e., metacarpals, phalanges,
metatarsals). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during
the first years of life. The fingernails and toenails may also appear unusually short and wide.
Affected individuals may have additional abnormalities resulting from abnormal cartilage and bone development, including limited extension of the elbows and arms and/or
progressive abnormal curvature of the spine. Other characteristic abnormalities include a relatively enlarged head (macrocephaly), slightly flattened midface, and/or small,
pug nose. Acromesomelic Dysplasia is inherited as an autosomal recessive genetic trait. .Relatively recent clinical studies have demonstrated that there are at least two
forms that are distinguishable by X-ray and at the molecular level. The Maroteaux Type has been traced to chromosome 9 (Gene Map Locus 9p13-p12). The
Hunter-Thompson Type has been mapped to chromosome 20 (20q11.2).
Acromicric Dysplasia : is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation
leading to short stature, and mild facial abnormalities. Most cases have occurred randomly for no apparent reason (sporadically). However, autosomal dominant
inheritance has not been ruled out.
ACTH deficiency : characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure
(hypotension). The pituitary hormone called "adrenocorticotropic hormone" (ACTH) is decreased or absent, and other cortisol and other steroid hormone levels in the
blood are abnormally low.
Adams-Oliver syndrome : an extremely rare inherited disorder characterized by defects of the scalp and abnormalities of the fingers, toes, arms, and/or legs. The
physical abnormalities associated with this disorder vary greatly among affected individuals. Some cases may be very mild while others may be severe. In infants with
Adams-Oliver Syndrome, scalp defects are present at birth (congenital) and may include one or multiple hairless scarred areas that may have abnormally wide (dilated)
blood vessels directly under the affected skin. In severe cases, an underlying defect of the bones of the skull may also be present. In addition, infants with this disorder
typically have malformations of the hands, arms, feet, and/or legs. These range from abnormally short (hypoplastic) fingers and toes to absent hands and/or lower legs.
In some cases, additional abnormalities may also be present. Some cases of Adams-Oliver Syndrome occur randomly as the result of a spontaneous genetic change
(i.e., new mutation). Inheritance is autosomal dominant.
Addison's disease 腎上腺皮質激素衰竭 : a rare disorder characterized by chronic, usually progressive, insufficient production of the steroid hydrocortisone
(cortisol) by cells in the outer layer of the adrenal glands (adrenal cortex). Deficiencies of cortisol and other hormones manufactured in the adrenals affects carbohydrate
metabolism, the development of connective tissue and creates a disparity between the amounts of sodium and potassium (electrolyte imbalance) in the body. Increased
excretion of water and low blood pressure (hypotension) can lead to extremely low concentrations of water in the body (dehydration). Major symptoms of Addison's
Disease include fatigue, gastrointestinal discomfort, and changes in skin color (pigmentation).
Adenoid Cystic Carcinoma : a relatively rare form of cancer that most commonly develops in the salivary glands or other regions of the head and neck. In some cases,
ACC may arise in other primary sites, such as the skin; the upper or lower respiratory tract, including the voice box (larynx) or the windpipe (trachea); the esophagus; the
breast; the neck of the uterus (cervix) in females; the prostate gland in males; or other areas. The term "cancer" refers to a group of diseases characterized by
abnormal, uncontrolled cellular growth that invades surrounding tissues and may spread (metastasize) to distant bodily tissues or organs via the bloodstream, the
lymphatic system, or other means. Different forms of cancer, including adenoid cystic carcinoma, may be classified based upon the cell type involved, the specific nature
of the malignancy, the tissues or organs affected, and the disease's clinical course.
ACC tumors are characterized by a distinctive pattern in which abnormal "nests" or cords of certain cells (epithelial cells) surround and/or infiltrate ducts or glandular
structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes (hyaline membranes). Such
characteristics are apparent during microscopic evaluation of the tumor cells. ACC is considered a low-grade malignancy that has a history of slow growth, but tends to be
aggressively invasive and to infiltrate nearby lymph nodes as well as the "sheaths" or coatings surrounding nerve fibers (perineural spaces). This form of cancer may have
a tendency to recur later at the site where it first developed (local recurrence) and to spread to distant bodily sites, particularly the lungs, potentially resulting in
life-threatening complications.
Adie syndrome 瞳孔無力 : a rare neurological disorder affecting the pupil of the eye. In most patients the pupil is dilated (larger than normal) and slow to react to
light on nearby objects. In some patients, however, the pupil may be constricted (smaller than normal) rather than dilated. Absent or poor reflexes are also associated
with this disorder. Adie Syndrome is neither progressive nor life threatening, nor is it disabling.
Adrenal Hyperplasia, Congenital (General)先天性腎上腺增生症 : refers to a group of disorders that result from the impaired ability of the adrenal
glands to produce hormones known as corticosteriods. Glucocorticoids and mineralocorticoids are the two corticosteriod hormones that are active in the body. Low levels
of glucocorticoids, especially the hormone cortisol, can result in metabolic problems. Low levels of circulating cortisol cause the anterior pituitary gland to produce
abnormally high amounts of adrenocorticotropin hormone (ACTH). Deficiencies of mineralocorticoids, especially the hormone aldosterone, cause sodium and water
imbalance in the body; in some cases, this can be life-threatening. The various forms of Congenital Adrenal Hyperplasia represent enzyme deficiencies at different
stages of hormone production. These include 3-Beta Hydroxy-Steroid Dehydrogenase (HSD) Deficiency, 17-Hydroxylase Deficiency, 21-Hydroxylase Deficiency, 17-20
Desmolase Deficiency, 11-Beta Hydroxylase Deficiency, and 17-Alpha Hydroxylase. One rare form of Congenital Adrenal Hyperplasia can result from the overgrowth of
fatty-like cells in the adrenal glands (congenital lipoid hyperplasia). This is also known as male pseudohermaphroditism or 20-22 Desmolase Deficiency.
Adrenoleukodystrophy ( ALD ) 腦白質性腎上腺失養症 : a rare inherited metabolic disorder characterized by the loss of the fatty covering (myelin
sheath) on nerve fibers within the brain (cerebral demyelination) and the progressive degeneration of the adrenal gland (adrenal atrophy). Adrenoleukodystrophy that is
inherited as an X-linked genetic trait may begin in childhood or adulthood. However, Adrenoleukodystrophy that is inherited as an autosomal recessive genetic trait
typically begins during infancy (neonatal period). There are several forms of ALD. Onset of the classic childhood form, which is the most severe and affects only boys,
may occur between ages 4 and 10. Features of this form may include visual loss, learning disabilities, seizures, dysarthria (poorly articulated speech), dysphagia
(difficulty swallowing), deafness, disturbances of gait and coordination, fatigue, intermittent vomiting, melanoderma (increased skin pigmentation), and progressive
dementia. The most common symptoms are usually behavioral changes such as abnormal withdrawal or aggression, poor memory, and poor school performance. In the
milder adult-onset form, which typically begins between ages 21 and 35, symptoms may include leg stiffness, progressive spastic paraparesis (stiffness, weakness
and/or paralysis) of the lower extremities, and ataxia. Although adult-onset ALD progresses more slowly than the classic childhood form, it can also result in deterioration
of brain function. Another form of ALD is occasionally seen in women who are carriers of the disorder. Symptoms are mild and may include spastic paraparesis of the
lower limbs, ataxia, hypertonia (excessive muscle tone), mild peripheral neuropathy, and urinary problems. Neonatal ALD affects both male and female newborns.
Symptoms may include mental retardation, facial abnormalities, seizures, retinal degeneration, hypotonia (low muscle tone), heptomegaly (enlarged liver), and adrenal
dysfunction. This form is usually quickly progressive.
Bone marrow transplantation is effective early in the course of the childhood form. Physical and psychological therapy is important in all forms of ALD.
Afibrinogenemia , Congenital 血纖維蛋白原缺乏症 : a rare disorder characterized by absence of a certain substance (protein) in the blood that is
essential in the blood clotting (coagulation) process. This protein is known as fibrinogen or coagulation factor I. Affected individuals may be susceptible to severe
bleeding (hemorrhaging) episodes, particularly during infancy and childhood. Congenital Afibrinogenemia is thought to be transmitted as an autosomal recessive trait.
Agammaglobulinemias, Primary : a group of inherited immune deficiencies characterized by insufficient antibodies. Antibodies are composed of certain proteins
(immunoglobulins) that are essential to the immune system. They are produced by specialized cells (i.e., B lymphocytes) that circulate in the lymphatic fluid and blood.
Antibodies fight off bacteria, viruses, and other foreign substances that threaten the body. Agammaglobulinemias are also characterized by the abnormal function of
specialized white blood cells called B lymphocytes. The B lymphocytes are supposed to search out and identify bacteria, viruses, or other foreign substances in the body.
T lymphocytes, also known as the "killer cells," assist B lymphocytes to respond to infection and other antigens. However, in some forms of Primary
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 Agammaglobulinemias, neither the B nor the T lymphocytes function normally. There are three types of Primary Agammaglobulinemias: X-linked Agammaglobulinemia
(XLA), X-linked Agammaglobulinemia with growth hormone deficiency, and autosomal recessive Agammaglobulinemia. All of these disorders are characterized by a
weakened immune system that must be enhanced by gammaglobulin in order to fight infections.
Agenesis of corpus callosum(ACC)併胝體缺陷 : a rare disorder that is present at birth (congenital). It is characterized by a partial or complete absence
(agenesis) of an area of the brain that connects the two cerebral hemispheres. This part of the brain is normally composed of transverse fibers. Agenesis of Corpus
Callosum is usually inherited as either an autosomal recessive trait or an X-linked dominant trait. It can also be caused by an infection during the twelfth to the
twenty-second week of pregnancy (intrauterine) leading to developmental disturbance of the fetal brain. It may occur as a severe syndrome in infancy or childhood, as a
milder condition in young adults, or as an asymptomatic incidental finding. The first symptoms of ACC are usually seizures, which may be followed by feeding problems
and delays in holding the head erect, sitting, standing, and walking. The seizures may be caused by a very common disorder called infantile spasms, which is associated
with ACC. There may be impairments in mental and physical development, hand-eye coordination, and visual and auditory memory. Hydrocephaly may also occur. In
mild cases, symptoms such as seizures, repetitive speech, or headaches may not appear for years. Female children may also have a specific syndrome, Aicardi's
syndrome, in addition to ACC and infantile spasms, in which there is severe mental retardation and chorioretinal lacunae. ACC may occur as an isolated condition or in
combination with other cerebral anomalies including Arnold-Chiari malformation and Dandy-Walker syndrome, Andermann syndrome (with progressive neuropathy),
schizencephaly, holoprosencephaly, and migrational anomalies. ACC is also sometimes associated with complex multi-system malformations and with several
chromosomal anomalies, including trisomy 13 and 18. There are non-nervous system malformations that may occur both with and without chromosomal aberrations
such as midline facial defects.
There is no standard course of treatment for ACC. Treatment usually involves management of symptoms such as hydrocephaly and seizures if they occur.
Agnosia, Primary Visual : a rare neurological disorder characterized by the total or partial loss of the ability to recognize and identify familiar objects and/or people by
sight. This occurs without loss of the ability to actually see the object or person. The symptoms of Visual Agnosia occur as a result of damage to certain areas of the
brain (primary) or in association with other disorders (secondary).
Agranulocytosis, Acquired 後天粒狀白血球缺乏: a rare drug-induced blood disorder that is characterized by a severe reduction in the number of white
blood cells (granulocytes) in the circulating blood. There are three types of granulocytes, namely basophils, eosinophils, and neutrophils.
Acquired Agranulocytosis may be caused by a variety of drugs, including chemotherapeutic agents, used for cancer treatment, or antipsychotic medications (e.g.,
clozapine). The symptoms of Agranulocytosis develop because of impairment in the production of granulocytes in the bone marrow. People with Acquired Agranulocytosis
are susceptible to a variety of bacterial infections that may cause flu-like symptoms. Painful ulcers in mucous membranes that line the mouth and/or the gastrointestinal
tract may also develop.
Ahumada-del Castillo syndrome : a rare endocrine disorder affecting adult females and is characterized by impairment in the function of the pituitary and
hypothalamus glands. Symptoms may include the production of breast milk (lactation) not associated with nursing and the absence of menstrual periods (amenorrhea)
due to the lack of monthly ovulation (anovulation). The exact cause of Ahumada Del Castillo is not known although some research suggests that small tumors in the
pituitary and/or hypothalamus gland may be responsible for some cases of this disorder.
Aicardi syndrome 徵候群 (胼胝體發育缺陷 ): an extremely rare congenital disorder in which the structure linking the two cerebral hemispheres of the
brain (corpus callosum) fails to develop. The absence of the corpus callosum is associated with frequent seizures, marked abnormalities of the retina and choroid (the
thin membrane that covers the retina) of the eyes, and/or mental retardation. Infantile spasms (a form of childhood seizure), mental retardation, and an ocular
(eye) abnormality called lacunae (lesions) of the retina of the eye. Aicardi syndrome may be associated with other brain defects such as microcephaly (small brain) or
porencephalic cysts (cerebrospinal fluid-filled cavities or gaps in the brain). Onset of Aicardi syndrome generally begins between the ages of 3 and 5 months. The
disorder affects only females.
There is no cure for Aicardi syndrome nor is there a standard course of treatment. Treatment, which is symptomatic, generally involves management of seizures and
intervention programs for mental retardation
AIDS (Acquired Immune Deficiency Syndrome) : 愛滋病 an infectious disorder that suppresses the normal function of the immune system. It is caused by
the human immunodeficiency virus (HIV), which destroys the body's ability to fight infections. Specific cells of the immune system that are responsible for the proper
response to infections (T cells) are destroyed by this virus. Characteristically a person infected with HIV initially experiences no symptoms for a variable period of time.
This may be followed by the development of persistent generalized swelling of the lymph nodes (AIDS-related lymphadenopathy). Eventually most patients infected with
HIV experience a syndrome of symptoms that includes excessive fatigue, weight loss, and/or skin rashes.
The later stages of HIV infection are characterized by the progressive depression of T cells and repeated infections that can even occur during a course of antibiotic
therapy for another infection (superinfections). People with AIDS are particularly vulnerable to "opportunistic infections" from bacteria that other people normally fight off.
Pneumocystis carinii, which causes severe inflammation of the lungs (pneumonia), is a common infection that effects people with AIDS. Cancers (malignant neoplasms),
and a wide variety of neurological abnormalities, most notably the AIDS dementia complex, may also occur. These neurological symptoms when of HIV infects the
nervous system.
There is no cure for AIDS but recently developed, experimental treatments appear very promising. Some symptoms and complications may improve with treatment. For
example, antidementia drugs may relieve confusion and slow mental decline. Infections may be treated with antibiotics. Radiation therapy may be needed to treat
AIDS-related cancers present in the brain or spinal cord. Drug "cocktails" recommended to treat AIDS can cause neuropathy. Neurological complications of AIDS are often
underrecognized by AIDS clinicians, so patients who suspect they are having neurological complications should be sure to discuss these with their doctor.
AIDS dysmorphic syndrome : a rare disorder of infancy that results due to a mother's infection with the human immunodeficiency virus (HIV) during pregnancy. HIV is
the virus (i.e., retrovirus) that causes acquired immune deficiency syndrome (AIDS). The mother of an affected infant may or may not have symptoms of AIDS.
In infants with AIDS dysmorphic syndrome, associated malformations may be recognized at birth (congenital) or later during childhood. Such abnormalities may include
an unusually small head (microcephaly) with a prominent, "box-like" forehead; prominent eyes; other distinctive malformations of the head and facial (craniofacial) area;
and abnormal delays in physical and mental development.
Symptoms associated with severe impairment of the immune system (immunodeficiency) may become apparent during the first or second year of life or later during
childhood. Due to immunodeficiency, affected infants and children are extremely susceptible to infections with certain microrganisms (e.g., bacteria, viruses), particularly a
form of pneumonia caused by the Pneumocystis carinii bacterium. Additional symptoms and findings may also be present.
Alagille syndrome 先天膽管缺失: a genetic liver disorder usually present at birth. It is characterized by insufficient passage of bile due to a lower than normal
number of bile ducts inside the liver. In some cases, the child may be born with no bile ducts. Major symptoms include prolonged yellow skin discoloration (jaundice), eye
and heart structure anomalies, abnormally shaped vertebrae of the spine, compression of nerve space inside the lower spine, an absence of deep tendon reflexes,
mental deficiency, facial and kidney (renal) abnormalities, shortened fingers, and pancreatic insufficiency.
Albinism 白化病 : a group of rare inherited disorders characterized by the absence at birth of color (pigmentation) in the skin, hair, and eyes. Albinism is also
associated with certain syndromes that produce defects in the eyes (ocular abnormalities). The syndromes of this disorder are categorized as Tyrosinase-Negative
Oculocutaneous Albinism, Tyrosinase- Positive Oculocutaneous Albinism (Albinoidism), and Ocular Albinism.
Alexander's disease 精神錯亂 : an extremely rare, progressive, metabolic, neurological disorder that is frequently inherited. It is one of a group of diseases known
as the leukodystrophies. Alexander's Disease is characterized by loss of the fatty layers that cover nerves (demyelination), and the formation of abnormal bodies
(Rosenthal fibers) in supporting cells (astrocytes) of the brain. These Rosenthal fibers most frequently form on the surface of the brain and around the blood vessels
within the brain. The symptoms of Alexander's Disease usually begin during infancy and are associated with mental and physical retardation. Juvenile (occuring later
than infancy) and adult-onset Alexander's Disease are recognized forms of this disorder but occur very infrequently. Alexander disease, which affects mostly males, is
usually nonfamilial and begins at about 6 months of age. Symptoms may include mental and physical retardation, dementia, enlargement of the brain and head,
spasticity (stiffness of arms and/or legs), and seizures. In addition to the infantile form, juvenile and adult onset forms of the disorder have been reported. These forms
occur less frequently and have a longer course of progression.
There is no cure for Alexander disease, nor is there a standard course of treatment. Treatment of Alexander disease is symptomatic and supportive.
Alkaptonuria 含 alkapton body 之黑尿症 : a very rare hereditary disorder that is characterized by the excretion of large volumes of dark colored urine. The
darkened urine is the result of the exposure to the air (spontaneous oxidation) of homogentisic acid that accumulates in the urine. Homogentisic acid also accumulates in
14
 the body tissues. In normal functioning, the amino acid tyrosine is metabolized into homogentisic acid, and further into maleylacetoacetic acid. In alkaptonuria, this
metabolic pathway is not completed because of a deficiency of the enzyme homogentisic acid oxidase; therefore, the further metabolism of homogentisic acid is
prevented. Excess accumulation of this acid leads to the severe degeneration of the cartilage of the spine and other major joints, and ultimately to osteoarthritis.
Allan Herndon Syndrome : an extremely rare inherited disorder characterized by severe mental retardation; an inability to form words and speak clearly (dysarthria);
diminished muscle tone (hypotonia); slow involuntary purposeless movements (athetoid movements) of the arms, hands, legs, and feet (extremities); impaired ability to
coordinate voluntary movements (ataxia); and/or lack of control of voluntary movements of the legs (spastic paraplegia), resulting in "jerky" (athetoid) movements. In
most cases, affected infants appear normal until approximately six months of age, when it becomes apparent that they have unusually weak neck muscles resulting in an
inability to control head movements. In some cases, affected individuals may be unable to talk and/or walk. Other characteristic abnormalities may include
underdevelopment (hypoplasia) and/or wasting away (atrophy) of various muscles; fixation of several joints in a permanently flexed position (joint contractures); and/or
unusual head and facial (craniofacial) features. Allan-Herndon Syndrome is thought to be inherited as an X-linked recessive genetic trait.
Alopecia areata 簇狀禿髮 : a progressive condition characterized by loss of hair. The cause is unknown, and unpredictable hair loss is the only noticeable symptom.
Regrowth of hair may or may not occur. Hair loss is usually confined to the head and face, although the entire body may be involved.
Alpers disease Alpers 氏病: Alpers' disease is a rare, progressive neurodegenerative disease of the brain that occurs in infants and children. It is an autosomal
recessive disorder that is sometimes seen in siblings. First signs of the disease, which include intractable seizures and failure to meet meaningful developmental
milestones, usually occur in infancy. Primary symptoms of the disease are developmental delay, progressive mental retardation, hypotonia (low muscle tone), spasticity
(stiffness of the limbs), and dementia. Seizures may include epilepsia partialis continua, a type of seizure that consists of repeated myoclonic (muscle) jerks. Optic
atrophy may also occur, often leading to blindness. And, although physical signs of chronic liver dysfunction may not be present, many patients suffer liver impairment
leading to liver failure. While some researchers believe that Alpers' disease is caused by an underlying metabolic defect, no consistent defect has been identified.
There is no cure for Alpers' disease and, currently, no way to slow its progression. Treatment is symptomatic and supportive. Anticonvulsants may be used to treat the
seizures. However, caution should be used when selecting valproate as therapy since it may increase the risk of liver failure. Physical therapy may help to relieve
spasticity and maintain or increase muscle tone.
Narkewicz, M, et al. Liver Involvement in Alpers Disease. Journal of Pediatrics, 119:2; 260-267 (August 1991).
Rowland, L (ed). Merritt's Textbook of Neurology. 8th edition, Lea & Febiger, Philadelphia, p. 553 (1989).
Worle H, et. al . Progressive cerebral degeneration of childhood with liver disease (Alpers). Clinical Neuropathology, 17:2:63-8 (March/April 1998).
Thoene, JG (ed.). Physicians' Guide to Rare Diseases. Dowden Publishing Company, Inc., Montvale, NJ, p. 291 (1992).
Alpha-1 antitrypsin deficiency : a hereditary disorder characterized by low levels of a protein called alpha-1-antitrypsin (A1AT) which is found in the blood. This
deficiency may predispose an individual to several illnesses but most commonly appears as emphysema, less commonly as liver disease, or more rarely, as a skin
condition called panniculitis. A deficiency of A1AT allows substances that break down protein (proteolytic enzymes) to attack various tissues of the body. This results in
destructive changes in the lungs (emphysema) and may also affect the liver and joints. Alpha-1-Antitrypsin is ordinarily released by specialized, granular white blood
cells (neutrophils) in response to infection or inflammation. A deficiency of Alpha-1-Antitrypsin results in unbalanced (relatively unopposed) rapid breakdown of proteins
(protease activity), especially in the supporting elastic structures of the lungs. This destruction over many years leads to emphysema and is accelerated by smoking.
Alport syndrome 腎絲球基底膜病變: a group of hereditary kidney disorders characterized by progressive deterioration of the glomerular basement membranes
(GBMs), which are microscopic parts of the kidney. This deterioration may lead to chronic renal (kidney) failure causing excess waste products in the blood (uremia).
Eventually severe renal failure (end-stage renal disease or ESRD) may develop. Uremia and kidney failure may cause heart and bone problems. Some types of Alport
Syndrome also affect vision and hearing.
Alstrom Syndrome : a rare disorder inherited as an autosomal recessive genetic trait. Characteristic features of this disorder include progressive loss of vision and
hearing beginning in early childhood, diabetes mellitus, and obesity. Degeneration of the retina of the eye (retinitis pigmentosa) may be apparent in the first year of life.
Other symptoms may include progressive kidney disease (chronic nephropathy), which may lead to serious complications. Intelligence is not affected.
Alternating Hemiplegia of Childhood : a rare neurological disorder characterized by frequent, temporary episodes of paralysis on one side of the body (hemiplegia).
Symptoms usually begin before the age of 18 months. This syndrome may be characterized by temporary (transient) hemiplegia of varying degrees; temporary
paralysis of the muscles that control eye movement (transient ocular palsies); sudden, involuntary movements of limbs and facial muscles (choreoathetosis); and/or
excessive sweating with changes in skin color and body temperature (autonomic nervous system dysfunction). Mental capacity may be affected. The exact cause of
AHC is unknown. Some cases of AHC may be inherited as an autosomal dominant genetic trait.
Alveolitis, Extrinsic Allergic : a lung disorder resulting from repeated inhalation of organic dust, usually in a specific occupational setting. In the acute form, respiratory
symptoms and fever begin several hours after exposure to the dust. The chronic form is characterized by gradual changes in the lung tissue associated with several
years of exposure to the irritant.
Alveolitis, Fibrosing : an inflammatory lung disorder characterized by abnormal formation of fibrous tissue between tiny air sacs (alveoli) or ducts in the lungs. Coughing
and rapid, shallow breathing occur with moderate exercise. The skin may appear slightly bluish (cyanotic) due to lack of circulating oxygen. Complications such as
infection, emphysema or heart problems may develop.
Alzheimer's disease 阿滋海默症 : a progressive condition of the brain affecting memory, thought and language. The degenerative changes of Alzheimer's Disease
lead to patches or plaques in the brain and the entanglement of nerve fibers (neurofibrillary tangles). Memory loss and behavioral changes occur as a result of these
changes in brain tissue.
Ameloblastoma 釉質母細胞瘤 : a very rare disorder of the jaw and sinuses. Major symptoms may include cysts or tumors in the dental area. They may also
occur in the sinuses, nose and/or eye sockets. In some cases, the ameloblastoma may become malignant and spread to other areas of the body.
Amelogenesis imperfecta 牙釉生成不全 : a rare inherited disorder characterized by brown discoloration of the teeth, resulting from a lack calcium
(hypocalcification) or underdevelopment (hypoplasia) of the hard outer covering of teeth (enamel). The disorder is divided into numerous forms based on the severity of
the enamel defect (e.g., complete absence [agenesis], underdevelopment, etc.). Individuals with Amelogenesis Imperfecta may be prone to early tooth loss and/or
disease of the structures that surround and support the teeth (periodontal disease). Amelogenesis Imperfecta may be inherited as an X-linked, autosomal dominant, or
autosomal recessive genetic trait, depending on the form present.
Amenorrhea, Primary 停經 : The absense of menstrual periods. The term "primary amenorrhea" is used if periods have never started in females aged 16 or older. It
is a rare gynecological disorder. Regular menstruation usually begins (menarche) within two years of the onset of puberty. Absence of menses by age 16-18 constitutes
Primary Amenorrhea.
Amniotic bands 羊膜結節 : an abnormal condition of fetal development in which fibrous bands of tissue that originate from the amniotic sac encircle and constrict
certain fetal areas, disrupting fetal growth. The amniotic sac is the thin, membranous sac that contains amniotic fluid and the developing fetus during pregnancy.
Amniotic band formation may be associated with early rupture of the amniotic membrane, chronic leakage and abnormally decreased levels of the fluid surrounding the
developing fetus (oligohydramnios), and abnormally decreased fetal movements. Associated structural malformations are extremely variable and may depend upon the
time of amniotic band formation during fetal development. Such deformities may include abnormalities of the arms and legs (limbs), fingers and toes (digits), spine, lungs,
facial area, skull, and/or abdominal and chest region.
Amyloidosis 澱粉樣變性 : the term applied to a group of metabolic disorders in which amyloid (a fibrous protein) accumulates in tissues of the body. The excessive
accumulation of amyloid causes the affected organ to malfunction. The accumulation may be localized, general, or systemic. There are various systems used to classify
the different forms of the disorder. The most widely used classification system is based on the chemical properties of the fiberlike structures within amyloid (fibrils).
The most common form of Amyloidosis is AL or light-chain-related (Primary Amyloidosis). This form of the disease may occur independently of other disease, or in the
presence of multiple tumors arising from the bone marrow (myeloma). This form of the disorder generally effects the tongue, thyroid gland, intestinal tract, liver and spleen.
Cardiac involvement may result in congestive heart failure.
AA Amyloidosis, or Secondary Amyloidosis, is most often discovered during the course of a chronic inflammatory disease, such as rheumatoid arthritis, chronic infections
or familial Mediterranean fever. AA Amyloidosis commonly impairs the proper functioning of the kidneys, liver and spleen. The adrenal glands, lymph nodes, and vascular

15
 system may be affected as well. The skin inflammation that occurs with recurrent injections that are given to treat some inflammatory diseases seems to induce AA
Amyloidosis. Malfunctioning of the kidneys, as in nephrotic syndrome and kidney (renal) failure, causes the most fatalities in AA Amyloidosis. This type of Amyloidosis is
reported in approximately one percent of cases of chronic inflammatory diseases in the United States. Amyloidosis of Aging commonly affects the heart. Sometimes this
form of Amyloidosis also affects the pancreas and brain. Hemodialysis-Associated Amyloidosis is seen in patients who have experienced long-term hemodialysis (a
procedure in which impurities or wastes are removed from the blood due to the malfunctioning of the kidneys). Familial Amyloidosis is found in a series of genetically
transmitted diseases that typically affect the kidney, heart, skin and other areas of the body.
Amyotrophic lateral sclerosis ( ALS ) 肌萎縮性脊柱側索硬化性, 俗稱漸凍症: 於歐洲稱為 Charcot’s disease, 於美國稱之
為 Lou Gehrig's disease,
歷史
1830 Charles Bell reports the case of a middle aged woman with progressive paralysis of limbs and tongue, preservation of sensation. The anterior
portion of the spinal cord showed degeneration, supporting his brilliant neuroanatomical discovery that "the anterior column...of the spinal
marrow is for motion, the posterior column is for sensation..."
1850 Aran describes progressive muscular atrophy (PMA), thought to be a primary disease of muscle.
1855 Cruvelihier attributes PMA to atopy of the anterior horns.
1868 Jean-Marie Charcot recognizes the demyelinating lesions of Multiple Sclerosis.
1870 Fritsch and Hitzig identify the cortical motor strip of the brain by electrical stimulation in dogs.
1874 Charcot, in a series of lectures based on 20 cases and 5 autopsies, establishes the clinical entity, Amyotrophic Lateral Sclerosis (ALS).
1879 Kahler and Pick identify gross atrophy of the motor gyrus in ALS.
1883 Dejerinne relates Progressive Bulbar Palsy (PBP) to ALS.
1884 Kahler unifies cases of PMA, ALS and PBP as "primary degneration of the motor system."
1891 Werdnig and Hoffman identify Infantile Progressive Muscular Atrophy since eponymically called Werdnig Hoffman Disease.
1952 Guamanian ALS
1956 Kugelberg and Welander distinguish juvenile muscvular atrophy from muscular dystrophy.
1959 Engel, Kurland and Klatzo report familial ALS (FALS) with posterior column involvement. The number of ALS cases which are familial is
usually given as 6%.

a disease that causes progressive degeneration and eventual loss of function of both upper and lower motor neurons resulting in progressive skeletal muscular wasting
and weakness. The disorder belongs to a class of disorders known as motor neuron diseases. ALS occurs when specific nerve cells in the brain and spinal cord that
control voluntary movement gradually degenerate. The loss of these motor neurons causes the muscles under their control to weaken and waste away, leading to
paralysis. ALS manifests itself in different ways, depending on which muscles weaken first. Symptoms may include tripping and falling, loss of motor control in hands and
arms, difficulty speaking, swallowing and/or breathing, persistent fatigue, and twitching and cramping, sometimes quite severely. ALS strikes in mid-life. Men are about
one-and-a-half times more likely to have the disease as women.There are a number of different forms of Amyotrophic Lateral Sclerosis and other motor neuron diseases
with similar symptoms. These include: Slow Motor Neuron Disease, Focal Motor Neuron Disease, Spinal Muscular Atrophy (Kugelberg-Welander Disease and Juvenile
Spinal Muscular Atrophy), Progressive Bulbar Palsy, Benign Focal Amyotrophy, Primary Lateral Sclerosis, Infantile Spinal Muscular Atrophy (Werdnig-Hoffmann Disease),
Wohlfart- Kugelberg-Welander Disease, and Floppy Infant Syndrome.
There is no cure for ALS; nor is there a proven therapy that will prevent or reverse the course of the disorder. The FDA recently approved riluzole, the first drug that has
been shown to prolong the survival of ALS patients. Patients may also receive supportive treatments that address some of their symptoms.

16
 Lou Gehrig ( 1903-1941 )
Mitsumoto, H, Hanson, M, and Chad, D. Amyotrophic Lateral Sclerosis: Recent Advances in Pathogenesis and Therapeutic Trials Archives of Neurology, 45;189-202
(February 1988).
Rowland, L (ed). Adult Motor Neuron Diseases Merritt's Textbook of Neurology, 8th Edition, Lea & Febiger, Philadelphia, pp. 682-687 (1989).
Rowland, L. Ten Central Themes in a Decade of ALS Research Advances In Neurology, Vol 56: Amyotrophic Lateral Sclerosis and Other Motor Neuron Diseases,
Raven Press, Ltd., New York, pp. 3-23 (1991).
Rowland LP, Shneider NA. Amyotrophic lateral sclerosis. N Engl J Med 2001;344:1688-1700.
Laslo P, Lipski J, Nicholson LFB, Miles GB, Funk GD. GluR2 AMPA receptor subunit expression in motoneurons at low and high risk for degeneration in amyotrophic
lateral sclerosis. Exp Neurol 2001;169:461-471
L. P. Rowland and N. A. Shneider Medical Progress: Amyotrophic Lateral Sclerosis. Lancet 344:1688-1700, 2001.

Anaphylaxis 急性過敏發作: a rare, generalized, potentially life-threatening allergic reaction to a particular substance (allergen) to which individuals have previously
developed an extreme sensitivity (hypersensitivity). The reaction typically occurs within seconds or minutes or, more rarely, up to a few hours after exposure to such an
allergen. Allergens may include insect venom, certain foods, medications, vaccines, chemicals, or other substances. An anaphylactic reaction may be characterized by
development of an itchy, reddish rash (hives); a severe drop in blood pressure; swelling and obstruction of the mouth, nose, and throat; abdominal cramps; nausea and
vomiting; diarrhea; and severe difficulties breathing. Without immediate, appropriate treatment, the condition may rapidly lead to a state of unconsciousness (coma) and
life-threatening complications.
Andersen's disease 安德森氏症( 肝臟貯積症第四型)胰臟囊腫變性,支氣管擴張 : a glycogen storage disease inherited through recessive
genes. Symptoms of this disorder are caused by a lack of a brancher enzyme. Alpha-1,4-glucan 6-glucasyltransferase is abnormal in the liver, skin, fibroblasts, and other
tissue. The lack of this enzyme causes an abnormality in the structure of the main carbohydrate storage material (glycogen). Andersen Disease is characterized by
scarring of the liver (cirrhosis) that may lead to liver failure.
Anemia , Aplastic 再生不能貧血 : a rare bone marrow disorder characterized by decreased function of the bone marrow that results in abnormally low levels of all
the cellular elements of the blood (pancytopenia). In some cases, the disorder may affect primarily single cell lines (i.e., red blood cells, white cells, or platelets). The
initial symptoms may include increasing weakness, fatigue, recurrent or persistent infections, and/or bleeding. In about 50 percent of cases, the exact cause is not
known. In some cases, certain toxic agents (e.g., inorganic arsenic) or drugs (e.g., phenylbutazone, choramphenicol, etc.) may cause Aplastic Anemia.
Anemia, Blackfan Diamond : a rare blood disorder of unknown cause characterized by deficiency of red blood cells at birth (congenital hypoplastic anemia) and
various other symptoms and findings including slow growth, abnormal weakness and fatigue, paleness of the skin, characteristic facial abnormalities, protruding shoulder
blades (scapulae), webbing or abnormal shortening of the neck due to fusion of certain bones in the spine (cervical vertebrae), hand deformities, congenital heart
defects, and/or other abnormalities. The symptoms and physical findings associated with Blackfan-Diamond Anemia vary greatly from case to case. A consistent
"pattern" of symptoms and physical findings has not been identified. Blackfan-Diamond Anemia may be inherited as either an autosomal dominant or recessive genetic
trait.
Anemia, Fanconi's : a rare genetic disorder that may be apparent at birth or during childhood. The disorder is characterized by deficiency of all bone marrow elements
including red blood cells, white blood cells, and platelets (pancytopenia). Fanconi's Anemia may also be associated with heart (cardiac), kidney (renal), and/or skeletal
abnormalities as well as patchy, brown discolorations (pigmentation changes) of the skin. There are several different subtypes (complementation groups) of Fanconi's
Anemia, each of which is thought to result from abnormal changes (mutations) of different disease genes. Each subtype appears to share the same characteristic
symptoms and findings (phenotype). Fanconi's Anemia has autosomal recessive inheritance.
Anemia, Hemolytic, Acquired Autoimmune 後天自體免疫導致之溶血性貧血: a rare autoimmune disorder characterized by the premature
destruction of red blood cells. Autoimmune diseases occur when the body's natural defenses against invading organisms (e.g., lymphocytes, antibodies) destroy healthy
tissue for unknown reasons. Normally, the red blood cells have a life span of approximately 120 days before they are removed by the spleen. In an individual affected
with Acquired Autoimmune Hemolytic Anemia, the red blood cells are destroyed prematurely and bone marrow production of new cells can no longer compensate for
their loss. The severity of this type of anemia is determined by the time the red blood cell is allowed to survive in an affected person, and by the capacity of the bone
marrow to continue red cell production. Acquired Autoimmune Hemolytic Anemia is a disorder that occurs in individuals who previously had a normal red blood cell
system. The disorder commonly occurs as the result of, or in conjunction with some other medical condition. It less commonly occurs alone without a precipitating factor.
Anemia, Hemolytic, Cold Antibody : by the body's natural defenses against invading organisms (antibodies). Normally, the red blood cells have a life span of
approximately 120 days before they are removed by the spleen. In individuals with Cold Antibody Hemolytic Anemia, the red blood cells are destroyed prematurely and
bone marrow production of new cells can no longer compensate for their loss. The severity of the anemia is determined by the length of time that the red blood cells
survive and by the capacity of the bone marrow to continue new red blood cell production.
Immune Hemolytic Anemias may be subdivided by the temperatures at which the antibodies destroy red blood cells. As its name implies, Cold Antibody Hemolytic Anemia
occurs at temperatures of approximately 0 to 10 degrees centigrade (while Warm Antibody Hemolytic Anemia, for example, occurs at temperatures of 37 degrees or
higher). In most cases, Cold Antibody Hemolytic Anemia is a primary disorder that typically becomes apparent from approximately 50 to 60 years of age. Symptoms and
findings associated with the disorder may include fatigue; low levels of circulating red blood cells (anemia); persistent yellowing of the skin, mucous membranes, and
whites of the eyes (jaundice); and/or sweating and coldness of the fingers and/or toes (digits) and uneven bluish or reddish discoloration of the skin of the digits, ankles,
and wrists (acrocyanosis or Raynaud's sign). Cold Antibody Hemolytic Anemia may also occur due to or in association with a number of different underlying disorders
such as certain infectious diseases (e.g., mycoplasma infection, mumps, cytomegalovirus, infectious mononucleosis), immunoproliferative diseases (e.g.,
non-Hodgkin�s lymphoma, chronic lymphocytic leukemia), or connective tissue disorders (e.g., systemic lupus erythematosus). Although Cold Antibody Hemolytic
Anemia is known to be an autoimmune disorder, its exact underlying cause is not fully understood.
Anemia, Hemolytic, Warm Antibody : an autoimmune disorder characterized by the premature destruction of red blood cells by the body's natural defenses against
17
 invading organisms (antibodies). Normally, the red blood cells have a life span of approximately 120 days before they are removed by the spleen. In an individual
affected with Warm Antibody Hemolytic Anemia, the red blood cells are destroyed prematurely and bone marrow production of new cells can no longer compensate for
their loss. The severity of the anemia is determined by the time the red blood cells are allowed to survive and by the capacity of the bone marrow to continue new red
blood cell production. Immune Hemolytic Anemias are subdivided by the optimal temperature at which the antibodies destroy red blood cells. As their names imply,
Warm Antibody Hemolytic Anemia occurs at temperatures of 37 degrees centigrade or higher while Cold Antibody Hemolytic Anemia usually occurs at approximately 0 to
10 degrees.
Anemia, Hereditary Nonspherocytic Hemolytic 遺傳性非圓球型溶血性貧血 : a term used to describe a group of rare genetic blood disorders
characterized by defective red blood cells (erythrocytes) that are not abnormally "sphere-shaped" (spherocytes). These disorders are thought to be caused by defects
in the membranes of red blood cells, abnormal metabolism of a chemical contained in hemoglobin (porphyrin), and deficiencies in certain enzymes such as
glucose-6-phosphate dehydrogenase (G6PD) or pyruvate kinase. There are approximately 16 red blood cell enzyme abnormalities that may cause Hereditary
Nonspherocytic Hemolytic Anemia.
Glucose-6-Phosphate Dehydrogenase Deficiency is one of the most common inherited enzyme abnormalities in humans. There are close to 300 different varieties of
enzymatic disorders that have been classified into 5 main groups according to their relationship to red blood cells and the premature destruction of red blood cells
(hemolysis). Generally people with Hereditary Nonspherocytic Hemolytic Anemia who also have a glucose-6-phosphate dehydrogenase deficiency have inherited an
uncommon variant of this enzyme deficiency characterized by decreased enzyme activity, extremely abnormal kinetics, and reduced heat stability. These factors could
account for the defective function of glucose-6-phosphate dehydrogenase.
Anemia, Hereditary Spherocytic Hemolytic : a rare blood disorder characterized by defects within red blood cells (intracorpuscular) that result in a shortened
survival time for these cells. Red blood cells (erythrocytes) normally circulate for a few months and when they die off are replaced by new erythrocytes. However, in
Hereditary Spherocytic Hemolytic Anemia, the cells die prematurely. They also have low amounts of fats (lipid) in the cell membranes and an abnormally small amount of
surface area. The red blood cells are sphere shaped (spherocytic) making it difficult for them to pass through the spleen, resulting in the early destruction of these cells
(hemolysis). The sphere shape of the red blood cells is the hallmark of Hereditary Spherocytic Hemolytic Anemia, and this abnormality may be identified under a
microscope. Hereditary Spherocytic Hemolytic Anemia is caused by an inherited metabolic defect.
Anemia, Megaloblastic 巨型紅血球貧血: a rare blood disorder characterized by the presence of large, abnormal, immature red blood cells (megaloblasts).
Decreased numbers and immaturity of white blood cells (leukocytes) and blood platelets (thrombocytes) may also occur. This disorder may be caused by a deficiency or
defective absorption of vitamin B12 or folic acid. Certain antitumor or immunosuppressive drugs may also cause Megaloblastic Anemia.
Anemia, Pernicious 惡性貧血: a rare blood disorder characterized by the inability of the body to properly utilize vitamin B12 (a cobalamin), which is essential for
the development of red blood cells. The symptoms of Pernicious Anemia may include weakness, fatigue, an upset stomach, an abnormally rapid heartbeat
(tachycardia), and/or chest pains. Recurring episodes of anemia (megaloblastic) and an abnormal yellow coloration of the skin (jaundice) are also common. Pernicious
Anemia is thought to be an autoimmune disorder, and certain people may have a genetic predisposition to this disorder. The three recognized forms of Pernicious
Anemia include: Congenital Pernicious Anemia, Juvenile Pernicious Anemia, and Adult Onset Pernicious Anemia. The subdivisions are based on the age at onset and
the precise nature of the defect causing impaired B12 utilization (e.g., absence of intrinsic factor).
Anemia, Sideroblastic : a group of blood disorders characterized by an impaired ability of the bone marrow to produce normal red blood cells. The iron inside red blood
cells is inadequately used to make hemoglobin, despite adequate or increased amounts of iron. Abnormal red blood cells called sideroblasts are found in the blood of
people with these types of anemia.
Anencephaly 無腦畸形: Anencephaly is a neural tube defect (a disorder involving incomplete development of the brain, spinal cord, and/or their protective coverings).
The neural tube is a narrow sheath that folds and closes between the 3rd and 4th weeks of pregnancy to form the brain and spinal cord of the embryo. Anencephaly
occurs when the "cephalic" or head end of the neural tube fails to close, resulting in the absence of a major portion of the brain, skull, and scalp. Infants with this disorder
are born without both a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating area of the brain). The remaining brain tissue is often
exposed--not covered by bone or skin. The infant is usually blind, deaf, unconscious, and unable to feel pain. Although some individuals with anencephaly may be born
with a rudimentary brain stem, the lack of a functioning cerebrum permanently rules out the possibility of ever gaining consciousness. Reflex actions such as respiration
(breathing) and responses to sound or touch may occur. The cause of anencephaly is unknown. Although it is believed that the mother's diet and vitamin intake may play
a role, scientists believe that many other factors are also involved.
There is no cure or standard treatment for anencephaly. Treatment is supportive.
Angelman syndrome (Happy puppet) : a rare disorder characterized by severe mental retardation; absence or near absence of speech; unprovoked, prolonged
episodes (paroxysms 發作) of inappropriate laughter; characteristic facial abnormalities; and episodes of uncontrolled electrical activity in the brain (seizures).
Abnormalities of the head and facial (craniofacial) area may include a small head (microcephaly); deeply set eyes; a large, wide mouth (macrostomia) and a protruding
tongue; an underdeveloped upper jaw (maxillary hypoplasia) and protruding lower jaw (mandibular prognathism); and widely spaced teeth. During infancy, feeding
difficulties and abnormal sleep patterns are typically present. In addition, by early childhood, individuals with Angelman Syndrome have severe developmental delays;
impaired control of voluntary movements (ataxia), resulting in a stiff manner of walking (ataxic gait) with jerky arm movements; and characteristic positioning of the arms
with flexion of the elbows and wrists. Although affected individuals may be unable to speak, many gradually learn to communicate through other means, such as
sign language. In addition, some may have enough receptive language development to understand simple commands. In most affected individuals, Angelman Syndrome
appears to occur spontaneously (sporadically) for unknown reasons. However, some familial cases have been reported. The disorder is thought to be caused by deletion
or disruption of a certain gene or genes located on the long arm (q) of chromosome 15 (15q11-q13).
Angioedema, Hereditary : a rare inherited vascular disorder characterized by an excessive accumulation of body fluids that results in areas of obstruction in lymphatic
vessels or veins. The blockage of the normal flow of blood or lymphatic fluid results in temporary swelling of the skin and mucous membranes. Symptoms develop due to
deficiency or improper functioning of certain proteins that help to maintain the normal flow of fluids through very small blood vessels (capillaries). In some cases fluid
may accumulate in other internal organs. The severity of the disease varies greatly among affected individuals. There are two recognized forms of this disorder. The
most common is Hereditary Angioedema Type I, which is the result of abnormally low levels of certain complex proteins in the blood (C1 esterase inhibitors) known as
complements. They help to regulate various body functions (e.g., flow of body fluids in and out of cells). Hereditary Angioedema Type II, a rarer form of the disorder,
occurs as the result of the production of abnormal complement proteins.
Aniridia 無虹膜畸形 : a rare genetic vision disorder characterized by lack of normal development of the eye's iris. The iris is the circular colored membrane in the
middle of the eyeball. It is perforated in the center by an opening known as the pupil, which regulates the amount of light that enters the eye. Aniridia is characterized by
partial or complete absence of the iris. Four forms of Aniridia have been identified to date. Each can be distinguished by accompanying symptoms. Some cases are
thought to occur sporadically, although a chromosome defect is the cause of most forms of this disorder.
Aniridia Cerebellar Ataxia Mental Deficiency : also known as Gillespie Syndrome, is an extremely rare inherited disorder that is characterized by partial absence
(aplasia) of the colored portion (iris) of the eye (Partial Aniridia), impaired coordination of voluntary movements due to underdevelopment (hypoplasia) of the brain's
cerebellum (cerebellar ataxia), and mental retardation. Many affected individuals also exhibit a delay in the acquisition of skills requiring coordination of muscular and
mental activity (psychomotor retardation). Aniridia-Cerebellar Ataxia-Mental Deficiency is believed to be inherited as an autosomal recessive genetic trait.
Ankylosing spondylitis 關節強直性脊椎炎 : a progressive inflammatory disorder that typically becomes evident during early to mid adulthood. The condition
is characterized by inflammation (arthritis) of joints of the spine, resulting in pain, swelling, stiffness, and potential spinal immobility (ankylosis). Joints between the
hipbones and the spine, known as the sacroiliac joints, are typically affected. In some individuals with the condition, other regions of the spine may progressively become
involved, such as joints within the spinal column of the lower back (lumbar spine), the upper back (thoracic spine), and the neck (cervical spine). Progression may
spontaneously subside at any stage of involvement. However, in some individuals with the condition, all regions of the spinal column may eventually become involved.
Many affected individuals develop lower back and hip pain that may be more severe at night and after rest. In addition, there is often associated stiffness of affected
regions in the morning. In those with involvement of joints joining the ribs with the spine (costovertebral joints), breathing capacity may become diminished due to
difficulties in expanding the chest. In addition, in some affected individuals, other associated findings may include recurrent inflammation of the colored region of the
eyes (iritis) and inflammatory changes of the major artery of the body (aoritis), resulting in the backflow of blood into the lower left chamber (ventricle) during contraction
of the heart (aortic insufficiency or regurgitation). The exact cause of Ankylosing Spondylitis is not fully understood. However, investigators have determined that over
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 90 percent of affected individuals have a specific, genetically determined protein known as HLA-B27. The gene that regulates production of the protein has been located
on the short arm (p) of chromosome 6 (6p21.3). The possible role of the HLA-B27 protein in genetically predisposing individuals to the disorder remains undetermined.
Researchers suggest that Ankylosing Spondylitis is inherited as an autosomal dominant trait. Some individuals with a defective gene for the condition may not develop
associated symptoms or findings (reduced penetrance).
Anodontia 先天無齒症: a genetic disorder characterized by partial or complete absence of the primary or permanent teeth. It is associated with a group of
non-progressive skin and nerve syndromes called the Ectodermal Dysplasias. Anodontia is usually part of a syndrome and seldom occurs as an isolated entity.
Anorexia Nervosa : 神經性厭食症 an illness of self-starvation resulting in marked weight loss and characterized by a disturbed sense of body image and anxiety
about weight gain. Females with this disorder may also experience absence of menstrual periods.
Anti-phospholipid antibody syndrome : (APLS) is a very rare blood disorder characterized by recurring blood clots that usually appear before 45 years of age. It
may also be associated with repeated spontaneous abortions for no apparent reason in young women. There may be a family history of blood clotting disorders in some
cases.
Antisocial Personality Disorder : a mental illness that usually becomes apparent before the age of fifteen. Major symptoms may include antisocial behavior in which
there is little concern for the rights of others. Excessive drinking, fighting and irresponsibility may also occur.
Antithrombin III Deficiency : a blood disorder characterized by the tendency to form clots in the arteries and/or veins (thrombosis). An inherited tendency to
thrombosis is known as thrombophilia. Antithrombin III is a substance in the blood that limits the blood's ability to clot (coagulation). In people with Congenital
Antithrombin III Deficiency, there is usually a reduced amount of this substance in the blood due to a genetic abnormality. Antithrombin III Deficiency may also be
acquired; in such cases, the disorder may be reversible with treatment.
Antley-Bixler syndrome : a very rare disorder characterized by inappropriate knitting together of bones in the body (skeletal fusions), especially the bones of the skull,
hips, and arms. Children with this disorder have unusual facial features including a large prominent forehead and a flat nasal bridge. The exact cause of Antley-Bixler
Syndrome is not fully understood although some studies suggest that it may be inherited as an autosomal recessive genetic trait.
APECED syndrome : a very rare genetic syndrome involving the autoimmune system. It is a combination of several distinct disorders and s defined as the subnormal
functioning of several endocrine glands at the same time (concurrently). The acronym APECED stands for Autoimmune Polyendocrinopathy (APE), Candidiasis (C) and
Ectodermal Dysplasia (ED). Autoimmune disease affecting one gland is frequently followed by the impairment of other glands. In this syndrome two major patterns of
failure have been described.
Type I affects children and adults younger than age 35. It is characterized by below normal secretion of the parathyroid gland (hypoparathyroidism--79%) and the failure of
the adrenal cortex to secrete normal volumes of hormones (72%). About 60% of women and about 15% of men fail to mature sexually (hypogonadism). A persistant
fungal infection (mucocutaneous candidiasisis) is common and chronic.
Type II more frequently strikes adults with peak incidence at about 30 years. Almost invariably it involves the adrenal cortex with thyroid involvement somewhat less
frequent. It may also involve the pancreatic islets producing an insulin-dependent diabetes mellitus.
Apert syndrome 尖頭併指畸形 : a rare inherited disorder characterized by premature closure of the bones of the skull (craniosynostosis) causing the head to
appear long and pointed at the top (acrocephaly). Other features of this disorder include fusion or webbing (syndactyly) of the fingers and/or toes and unusual facial
features such as widely spaced, protruding eyes and dental crowding. Apert Syndrome may be inherited as an autosomal dominant genetic trait, or it may occur for no
apparent reason (sporadic).
Aplasia cutis congenita 先天皮膚發育不全: a rare disorder that may be inherited as an autosomal dominant or autosomal recessive genetic trait. Individuals
are born with the absence of certain layer(s) of skin on the scalp, trunk, and/or arms and legs. The affected area typically is covered with a thin, transparent membrane.
The skull and/or underlying areas may be visible and be abnormally developed. Aplasia Cutis Congenita may be a primary disorder or it may occur in association with
other underlying disorders.
Apnea, Infantile 嬰兒呼吸暫停 : a term used to describe the temporary absence of spontaneous breathing. Infantile apnea occurs in children under the age of
one year. Apnea may occur because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms of infantile
apnea include the stoppage of breathing during sleep, an abnormal bluish discoloration to the skin (cyanosis) and sometimes an unusually slow heartbeat (bradycardia).
Infantile apnea may be related to some cases of sudden infant death syndrome. Episodes of apnea may decrease with age. However, several forms of adult sleep
apnea also exist.
Apnea, Sleep 睡眠中呼吸暫停: a sleep disorder characterized by temporary, recurrent interruptions of breathing (respiration) during sleep. Symptoms of this
disorder include periodic wakefulness during the night, excessive sleepiness during the day, and loud snoring during sleep. People with this disorder are frequently
overweight. Diagnosis and treatment of sleep apnea can avoid serious medical problems that may arise as a consequence of oxygen deprivation in untreated patients.
Sleep apnea occurs in several forms. In some apneas, breathing (respiratory) drive is normal while in others it is abnormal. The rate of respiration is regulated by group of
nerve cells in the brain that control the rhythm of breathing in response to changing oxygen levels in the blood (respiratory drive). Obstructive sleep apnea (upper airway
apnea), is the most common form of sleep apnea. It results from the blockage of the respiratory passages during sleep. Affected individuals may struggle to breathe and
experience increased respiratory effort. Respiratory drive is normal in people with this form of sleep apnea but the blockage prevents them from breathing normally.
Obstructive apnea is more likely than central apnea to be associated with snorting and arousal from sleep.
In the rarer central sleep apnea, the brain does not send adequate signals to the diaphragm and lungs during sleep, resulting in low respiratory drive. In this form of sleep
apnea, breathing stops and does not resume until the oxygen-deprived brain finally sends impulses to the diaphragm and lungs, and breathing resumes. In infants, central
sleep apnea is defined as lasting 20 seconds or more.
In some cases, sleep apnea is referred to as "Pickwickian Syndrome." In these cases, obstructive apnea is combined with obesity and a short neck. Infantile sleep apnea
affects children and its cause is unknown.
Apraxia 精神性運動不能 : a disorder of brain function characterized by the inability to perform learned movements on command, even though the command is
understood and there is a willingness to perform the movement. The affected individual has the physical ability to move, but cannot. Apraxia is believed to be caused
by a lesion in the neural pathways of the brain that contain the learned patterns of movement. It is often a symptom of neurological, metabolic, or other disorders that
can involve the brain.
Apraxia, Ocular Motor, Cogan Type : a rare inherited eye disorder that is present at birth (congenital). The disorder is characterized by a defect in side-to-side
(horizontal) eye movements, both voluntary and responsive. When affected infants rotate their heads to look at an object to the side, their eyes will "lag" and then move
in the opposite direction. In order to compensate for this, the infants will sharply jerk their heads past the desired object in an effort to bring the eyes to a position where
they can view the object. As affected children reach school age, the disorder may also be associated with poor reading skills and clumsiness. Symptoms of this disorder
usually improve throughout the first and second decades of life. Cogan Type Ocular Motor Apraxia is thought to be inherited as an autosomal recessive genetic trait.
Arachnoid Cysts 蜘蛛膜囊腫 : cerebrospinal fluid -filled sacs that occur on the arachnoid membrane that covers the brain and the spinal cord. There are three
membranes covering these components of the central nervous system: dura mater, arachnoid, and pia mater. Arachnoid cysts appear on the arachnoid membrane, and
they may also expand into the space between the pia mater and arachnoid membranes (subarachnoid space). While Arachnoid Cysts in general are not rare, they are
extremely rare in some locations. Arachnoid Cysts do not usually appear within the two hemispheres of the brain (cerebrum) or within the cavities (ventricles) of the
brain.
Most cases begin during infancy, however onset may be delayed until adolescence. Symptoms of an arachnoid cyst are related to the cyst size and location. Small cysts
are usually asymptomatic and are discovered only incidentally. Large cysts may cause cranial deformation or macrocephaly (enlargement of the head), producing such
symptoms as headaches, seizures, hydrocephalus (excessive accumulation of cerebrospinal fluid), increased intracranial pressure, developmental delay, and behavioral
changes. Other symptoms may include hemiparesis (weakness or paralysis on one side of the body) and ataxia (lack of muscle control). Arachnoid cysts most often
occur in males.
Treatment for arachnoid cysts is symptomatic. When symptoms warrant, the surgical placement of a shunt may be required to decompress (remove pressure from) the
cyst.
Basauri, L, and Selman, J. Intracranial Arachnoid Cysts. Child's Nervous System, 8; 101-104 (1992).
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 Ciricillo, S, et al. Intracranial Arachnoid Cysts in Children. Journal of Neurosurgery, 74; 230-235 (February 1991).
Punzo, A, et. al. Surgical Indications for Intracranial Arachnoid Cysts. Neurochirurgia, 35; 35-42 (1992).
Arachnoiditis 蜘蛛膜炎 : a general term for several progressive regional disorders all of which result in the inflammation of parts of the middle membrane
surrounding the spinal cord and brain (arachnoid membrane) and the space defined by this membrane (subarachnoid space). Either the spinal cord or the brain may be
involved; in some cases, both are affected. This disorder can also be associated with meningitis. The condition may be caused by foreign agents such as anesthesia
drugs or testing dyes injected into the spine or arachnoid membrane. Since the subarachnoid space is continuous, it would be expected that a noxious agent
introduced in one place would distribute itself throughout the space. However, such is not the case. The lower spinal roots and/or the spinal cord may be affected, while
regions close by remain free of inflammation; hence, the term "spinal arachnoiditis". Similarly, the optic nerve and optic chiasm (crossing of nerve fibers) may be
affected, giving rise to the term "opticochiasmatic arachnoiditis".
Arginase deficiency 精胺酸脢缺乏症 : one of several hereditary urea cycle disorders. These disorders are caused by a deficiency of one of the enzymes
needed for the incorporation of ammonia into urea, which is normally excreted in the urine. These deficiencies cause an excess of ammonia in the blood and body
tissues. Affected infants may exhibit mental retardation, seizures, and spasticity. Arginase Deficiency is inherited as an autosomal recessive genetic trait.
Argininosuccinic aciduria : one of several hereditary urea cycle disorders. These disorders are caused by a deficiency of one of the enzymes needed for the
breakdown of ammonia into urea, which is normally excreted in the urine. The deficiencies cause an excess of ammonia in the blood and body tissues. In Arginino
Succinic Aciduria, the deficient enzyme is argininosuccinase. If left untreated, the disorder manifests itself by an elevated level of toxic ammonia in the blood
(hyperammonemia). This imbalance may lead to brain damage and eventually to coma.
Arnold-Chiari syndrome (also called Chiari malformation) Arnold-Chiari 氏水腦畸形: a rare malformation of the brain that is present at birth. Abnormalities
at the base of the brain may include the displacement of the lower portion of the brain (cerebellum) and/or brain stem through the opening in the back of the skull
(foramen magnum). Portions of the brain typically reach the spinal canal (upper cervical area). A developmental defect of the central nervous system may occur in some
infants with Arnold-Chiari Syndrome. A sac (myelomeningocele or herniated pouch) may bulge through an abnormal opening in the spinal column and may contain
portions of the spinal cord, spinal membranes, and/or cerebrospinal fluid. Some infants may also have abnormal accumulations of cerebrospinal fluid in the skull
(hydrocephalus). Other malformations of the brain and spinal cord (i.e., spina bifida) may also occur. Recently the term Arnold-Chiari Syndrome has been limited to
congenital malformations of the cerebellum and brain stem that displace these parts of the brain into the spinal canal. Chiari Type I is used to describe individuals who
have an extension of the brain into the spinal canal without a myelomeningocele. Chiari Type II describes this brain malformation along with myelomeningocele.
Chiari malformation may be congenital, associated with other anomalies including myelomeningocele, syringomyelia, and spina bifida. Hydrocephalus (increased
intracranial pressure) may also occur. Symptoms most often begin during infancy, although they may be delayed until adolescence or adulthood. Symptoms usually
include vomiting, muscle weakness in the head and face, difficulty swallowing, and varying degrees of mental impairment. Paralysis of the arms and legs may also occur.
As they grow older, adults and adolescents with Chiari malformation who previously were asymptomatic may show signs of progressive brain impairment, such as
involuntary, rapid, downward eye movements. Other symptoms may include dizziness, headache, double vision, deafness, an impaired ability to coordinate movement,
and episodes of acute pain in and around the eyes.
Children with Chiari malformation may require surgery to repair an existing myelomeningocele. Hydrocephalus may be treated with surgical implantation of a shunt to
relieve increased pressure on the brain. Some adults with Chiari malformation may benefit from surgery in which the opening in the back of the skull is enlarged to relieve
intracranial pressure.
Arteriovenous malformation ( AVM )動靜脈畸形 : a congenital defect that acts upon the linkage between the arteries and veins. AVM may occur in the
central nervous system, spine, liver, lungs, or limbs. Blood vessels in any of these areas may become enlarged and tortuous. Arteries and veins may connect directly
rather than being connected by fine capillaries. The malformation may be small and localized or may involve a large area (e.g., half the spinal cord). It may, like a mass
lesion, compress or even replace normal tissue, or it may rupture, causing local or generalized bleeding. The most common location in the spinal cord is on the back of
the cord at the level of the chest. An angioma visible on the skin may sometimes overlie the spinal AVM.
The most common symptoms of AVM include hemorrhaging (bleeding), seizures, headaches, and neurological problems such as paralysis or loss of speech, memory, or
vision.
There are three general forms of treatment for AVM: surgery; embolization, which involves closing off the vessels of the AVM by injecting glue into them (embolization is
often used before surgery); and radiosurgery, which involves focusing radiation on the AVM.
Arteritis, Giant Cell : a chronic inflammatory disease characterized by the progressive inflammation of many arteries of the body (panarteritis). Granular material and
abnormally large cells (giant cells) accumulate in the elastic lining of the arteries. Chronic inflammation is sometimes confined to the different branches of the heart's
main artery (aorta) and any large arteries can become inflamed. However, the temporal arteries of the head are most frequently affected (temporal arteritis). In rare
cases, veins may also be affected by giant cell arteritis. The symptoms of giant cell arteritis may include stiffness, muscle pain, fever, and/or headaches. The exact
cause of this disease is not fully understood, although it is thought to be an autoimmune disease that occurs when the body's own immune system attacks healthy
tissue.
Arteritis, Takayasu : a rare disorder characterized by inflammation of the large elastic arteries. The main artery of the heart (aorta) and the pulmonary (lung) artery are
affected. This disorder causes progressive inflammation of many arteries in the body (polyarteritis), resulting in the reduction of blood flow. Arteries in the head and arms
may be affected, and this can result in the loss of the major pulse points in the body. Some people with takayasu arteritis have irregular narrowing of portions of the large
arteries (segmental stenosis) and abnormal backward flow of blood from the aorta into the left ventricle of the heart (aortic regurgitation).
Arthritis, Infectious 感染性關節炎: as a result of infection of tissues of a joint by bacteria, viruses or fungi. Although the symptoms of Infectious Arthritis depend
upon which agent has caused the infection, associated symptoms often include fever, chills, general weakness, and headaches, followed by inflammation and painful
swelling of one or more joints of the body.
Arthritis, Juvenile 幼兒型關節炎: a rheumatic disease of childhood characterized by chronic inflammation of the connective tissue membranes that line the
spaces between certain bones and moveable joints (synovial membranes). Individuals with the disorder typically experience inflammation (arthritis), swelling, and pain
of affected joints. In severe cases, destructive changes of the synovial membranes and associated joint structures (articular structures) may eventually result in impaired
development, limited mobility, and possible deformity of affected joints. Some individuals with juvenile arthritis may also have generalized symptoms and findings, such
as fever, lack of appetite (anorexia), enlargement of the liver and spleen (hepatosplenomegaly), and/or other abnormalities. In addition, some forms of juvenile arthritis
are associated with an increased risk for inflammation of certain regions of the eye(s) (iridocyclitis). The range and severity of associated symptoms and findings may
vary, depending upon the specific form of the disorder present. The exact cause of juvenile arthritis is not known.
Arthritis, Psoriatic 牛皮癬性關節炎 : a rheumatoid-like arthritic condition that is associated with psoriasis of the skin or nails and a negative rheumatoid arthritis
(RA) serology laboratory test. The disorder is more common in females than males.
Arthrogryposis multiplex congenita 先天多發性關節彎曲 : a rare disorder that is present at birth (congenital), is characterized by reduced mobility of
many joints of the body. Impairment of mobility is due to the overgrowth (proliferation) of fibrous tissue in the joints (fibrous ankylosis). There are many different types of
Arthrogryposis Multiplex Congenita and the symptoms vary widely among affected individuals. In the most common form of Arthrogryposis Multiplex Congenita, the
range of motion of the joints in the arms and legs (limbs) is limited or fixed. Other findings may include inward rotation of the shoulders, abnormal extension of the
elbows, and bending of the wrists and fingers. In addition, the hips may be dislocated and the heels of the feet may be inwardly bent from the midline of the leg while the
feet are inwardly bent at the ankle (clubfoot). The cause of Arthrogryposis Multiplex Congenita (AMC) is unknown. Most types of Arthrogryposis Multiplex Congenita are
not inherited; however, a rare autosomal recessive form of the disease has been reported in one large inbred Arabic kindred in Israel.
Asherman's syndrome : a gynecological disorder in which affected females experience a gradual decrease in menstrual flow, increased cramping and abdominal pain,
eventual cessation of menstrual cycles (amenorrhea), and infertility. In females with the disorder, such symptoms and findings occur due to inflammation of the lining of
the uterus (endometritis) and the development of bands of scar tissue abnormally joining portions of the uterus (intrauterine adhesions and synechiae). Endometrial
scarring and intrauterine adhesions may occur due to surgical scraping or cleaning of tissue from the uterine wall (dilatation and curettage [D and C]), infections of the
endometrium (e.g., tuberculosis), or other factors.
Aspartylglycosaminuria 天門冬氨醯葡萄胺尿症: a very rare genetic disorder that is found most commonly in persons of Finnish decent. However, it is also
20
 found in other populations around the world. It is a lysosomal storage disease that becomes apparent after the infant is a few months old. Major symptoms may
include coarse facial features, spine and eye deformities, behavior problems and mental retardation. The disorder is caused by an glycoprotein enzyme deficiency.
Asperger syndrome/disorder (AS ) : a neuropsychiatric disorder. The inability to understand other's feelings, single-mindedness, lack of verbal skills, social
withdrawal and over-sensitivity are characteristic of this syndrome. Many scientists believe that Asperger's Syndrome is a sub-type of autism that is differentiated by a
later onset (i.e., it is usually not recognized before 30 months of age) and speech is not delayed as it usually is in children with autism.Generally, children with AS have
few facial expressions apart from anger or misery. Most have excellent rote memory and musical ability, and become intensely interested in one or two subjects
(sometimes to the exclusion of other topics). They may talk at length about a favorite subject or repeat a word or phrase many times. Children with AS tend to be "in their
own world" and preoccupied with their own agenda. AS is commonly recognized after the age of 3. Some individuals who exhibit features of autism (a developmental
brain disorder characterized by impaired social interaction and communication skills) but who have well-developed language skills may be diagnosed with AS, although
high-functioning autism differs from AS in early language delay.
There is no specific course of treatment or cure for AS. Treatment, which is symptomatic and rehabilitational, may include both psychosocial and psychopharmacological
interventions such as psychotherapy, parent education and training, behavioral modification, social skills training, educational interventions, and/or medications including
psychostimulants, mood stabilizers, beta blockers, neuroleptics, and tricyclic antidepressants.
Aspergillosis 麴菌病 : a term used to describe a group of pulmonary infections caused by inhaling the fungus Aspergillus. Most people who are exposed to this
common fungus are not affected by it, but those with an impaired immune system, or an abnormal immune response, can become ill.
Astrocytoma, Benign 良性星狀交質細胞瘤: are usually more slow growing than the malignant forms. Astrocytomas can occur anywhere in the brain or spinal
cord, with the subcortical (beneath the brain covering) white matter (fibrous tissue) of the brain hemispheres being the most common location in adults. The brainstem,
cerebellum, and optic nerve are the most common locations of benign astrocytomas in children.
Astrocytoma, Malignant 惡性星狀交質細胞瘤: an infiltrating, primary brain tumor, with tentacles that may invade surrounding tissue. This provides a
butterfly-like distribution pattern through the white matter of the cerebral hemispheres. The tumor may invade a membrane covering the brain (the dura), or spread via
the spinal fluid through the ventricles of the brain. Spread of the tumor (metastasis) outside the brain and spinal cord is rare.
Ataxia telangiectasia 毛細血管擴張之運動失調: (AT) is a complex genetic neurodegenerative disorder that may become apparent during infancy or early
childhood. The disorder is characterized by progressively impaired coordination of voluntary movements (ataxia); the development of reddish lesions of the skin and
mucous membranes due to permanent widening of groups of blood vessels (telangiectasia); and impaired functioning of the immune system (i.e., cellular and humoral
immunodeficiency), resulting in increased susceptibility to upper and lower respiratory infections (sinopulmonary infections). Individuals with AT also have an increased
risk of developing certain malignancies, particularly of the lymphatic system (lymphomas), the blood-forming organs (e.g., leukemia), and the brain. In those with AT,
progressive ataxia typically develops during infancy and may initially be characterized by abnormal swaying of the head and trunk. With disease progression, the
condition leads to an inability to walk (ambulation) by late childhood or adolescence. Ataxia is often accompanied by difficulties speaking (dysarthria); drooling; and an
impaired ability to coordinate certain eye movements (oculomotor apraxia), including the occurrence of involuntary, rapid, rhythmic motions (oscillations) of the eyes
while attempting to focus upon certain objects (fixation nystagmus). Affected children may also develop an unusually stooped posture and irregular, rapid, jerky
movements that may occur in association with relatively slow, writhing motions (choreoathetosis). In addition, telangiectasias may develop by mid-childhood, often
appearing on sun-exposed areas of the skin, such as the bridge of the nose, the ears, and certain regions of the extremities, as well as the mucous membranes of the
eyes (conjunctiva). AT is inherited as an autosomal recessive trait. The disorder is caused by changes (mutations) of a gene known as ATM (for "AT mutated") that
has been mapped to the long arm (q) of chromosome 11 (11q22.3). The ATM gene controls (encodes for) the production of an enzyme that plays a role in regulating cell
division following DNA damage.
Ataxia, Friedreich's : a genetic, progressive, neurologic movement disorder that typically becomes apparent before adolescence. Initial symptoms may include unsteady
posture, frequent falling, and progressive difficulties walking due to an impaired ability to coordinate voluntary movements (ataxia). Affected individuals may also develop
abnormalities of certain reflexes; characteristic foot deformities; increasing incoordination of the arms and hands; slurred speech (dysarthria); and rapid, involuntary eye
movements (nystagmus). Friedreich's Ataxia may also be associated with cardiomyopathy, a disease of cardiac muscle that may be characterized by shortness of breath
upon exertion (dyspnea), chest pain, and irregularities in heart rhythm (cardiac arrythmias). Some affected individuals may also develop diabetes mellitus, a condition in
which there is insufficient secretion of the hormone insulin. Primary symptoms may include abnormally increased thirst and urination (polydipsia and polyuria), weight
loss, lack of appetite, fatigue, and blurred vision. Friedreich's Ataxia may be inherited as an autosomal recessive trait. Cases in which a family history of the disease
has not been found may represent new genetic changes (mutations) that occur spontaneously (sporadically). Friedreich's Ataxia results from mutations of a gene known
as "X25" or "frataxin" located on the long arm (q) of chromosome 9 (9q13). In most affected individuals, the frataxin gene contains errors in the coded "building blocks"
(nucleotide bases) that make up the gene's instructions. The symptoms and findings associated with Friedreich's Ataxia are thought to result primarily from degenerative
changes of nerve fibers of the spinal cord as well as peripheral nerves, which are the motor and sensory nerves and groups of nerve cell bodies (ganglia) outside the
brain and spinal cord.
Ataxia, Hereditary : a group of rare genetic neuromuscular disorders. It is characterized by degenerative changes in the brain and spinal cord. It can affect a person
anytime between infancy through adulthood. Major symptoms include lack of coordination of the muscles used for voluntary movement.
Ataxia, Marie's : an inherited disorder of impaired muscle coordination usually beginning during young adulthood or middle age. This hereditary form of ataxia is
characterized by unsteady walking. Nerve degeneration and muscle atrophy in the legs, head and neck area and arms may occur. Cases that begin later in life may be
mild with symptoms that can often be treated successfully.
Atrial septal defects 房間中膈缺損 : are a group of rare heart defects that are present at birth (congenital). The normal heart has four chambers with two upper
chambers known as atria. They are separated from each other by a fibrous partition known as the atrial septum. The two lower chambers are known as ventricles and
are separated from each other by the ventricular septum. Valves connect the atria (left and right) to their respective ventricles. A small opening between the two atria
(foramen ovale) is present at birth. Shortly after birth, the atrial septum gradually closes and covers this opening. In infants with atrial septal defects, the atrial septum
may not close properly or may be malformed during fetal development. In this disorder, the opening between the atria persists long after it should be closed, resulting in
an increase in the workload on the right side of the heart and excessive blood flow to the lungs. Initially the symptoms associated with atrial septal defects may be
absent or so mild that they may go unnoticed. Frequently this disorder is not recognized until school age or even adulthood. In adults with undetected atrial septal
defects, various respiratory problems and/or heart failure may develop. There are several forms of atrial septal defects, including ostium primum atrial defects, ostium
secundum defects, and coronary sinus venosus (sinus venous defect). Most cases of atrial septal defects occur for no apparent reason (sporadic). Other cases are
thought to be inherited as autosomal recessive or dominant genetic traits. Atrial septal defects may also occur in association with other disorders such as Down
Syndrome or Ellis van-Creveld Syndrome.
Atrioventricular Septal Defect 房室中膈缺損: a rare heart defect that is present at birth (congenital). The normal heart has four chambers. Two chambers are
called atria which are separated from each other by a partition called the atrial septum. The other two chambers, known as ventricles, are also separated by a septum.
Valves connect the atria (left and right) to their respective ventricles. Infants with atrioventricular septal defect have improperly developed septa and valves (atrial and
ventricular septa and atrioventricular valves).
There are three forms of atrioventricular septal defect: incomplete mild ASD (atrial septal defect primum), a transitional form (atrial septal defect and small ventricular
septal defect), or a more severe or complete form (large atrial and ventricular defects). The symptoms of atrioventricular septal defect vary greatly and depend on the
severity of the malformations (e.g., valve leakage between ventricles and ventricular size). About half the cases of atrioventricular septal defect occur in children with
Down Syndrome.
Attention Deficit Hyperactivity Disorder 注意力缺乏之過動症 : (ADHD) is a neurobehavioral disorder of childhood characterized by short attention
span, excessive impulsiveness, and inappropriate hyperactivity. Symptoms of hyeractivity, impulsivity, and inattentive behavior must have been present before the age of
seven years and caused impairment in two or more social, academic, or occupational settings. The exact cause of ADHD is not known. Some of the warning signs of
ADHD include failure to listen to instructions, inability to organize oneself and school work, fidgeting with hands and feet, talking too much, leaving projects, chores and
homework unfinished, and having trouble paying attention to and responding to details. There are several types of ADHD: a predominantly inattentive subtype, a
predominantly hyperactive-impulsive subtype, and a combined subtype.
The usual course of treatment may include medications such as methylphenidate (Ritalin), dextroamphetamine(Dexedrine) or pemoline (Cylert), which are stimulants that
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 decrease impulsivity and hyperactivity and increase attention. Most experts agree that treatment for ADHD should address multiple aspects of the individual's functioning
and should not be limited to the use of medications alone. Treatment should include structured classroom management, parent education (to address discipline and
limit-setting), and tutoring and/or behavioral therapy for the child.
Autism 孤僻 : is classified as one of the pervasive developmental disorders of the brain. It is not a disease. It's a lifelong, nonprogressive neurologic disorder typically
appearing before the age of thirty months. It is characterized by language and communication deficits, withdrawal from social contacts and extreme reactions to changes
in the immediate environment. About 75 percent of children with autism have low scores on standardized intelligence tests. The outlook for independent living may be
improved with intensive training. Autism show three types of symptoms: impaired social interaction, problems with verbal and nonverbal communication, and unusual or
severely limited activities and interests. These symptoms can vary in severity. In addition, people with autism often have abnormal responses to sounds, touch, or other
sensory stimulation. Symptoms usually appear during the first three years of childhood and continue through life. Researchers have identified a number of genes that
play a role in the disorder. In some children, environmental factors also may play a role. Studies of people with autism have found abnormalities in several regions of the
brain which suggest that autism results from a disruption of early fetal brain development. Autism affects an estimated 10 to 20 of every 10,000 people, depending on
diagnostic criteria used, and strikes males about four times more often than females.
There is currently no cure for autism, but appropriate treatment may foster relatively normal development and reduce undesirable behaviors. Educational/behavioral
therapies and drug interventions are designed to remedy specific symptoms. Educational/behavioral therapies emphasize highly structured and often intensive
skill-oriented training. Doctors also may prescribe a variety of drugs to reduce symptoms of autism Other interventions are available, but few, if any, scientific studies
support their use.

B
Babesiosis Babes 氏蟲病: a rare infectious disease in humans. It normally infects animals. Babesiosis is caused by a single-celled organism (protozoa) known as
Babesia microti. The symptoms of the disease are similar to those of malaria. A severe form of Babesiosis, which can be life-threatening if untreated, can occur in people
who have had their spleen removed (splenectomized) or have an impaired immune system.
Balantidiasis 纖毛蟲病 : a rare intestinal infection caused by the bacterium, Balantidium coli, a single celled parasite (ciliate protozoan) that frequently infects pigs
but on occasion (rarely) infects humans. Some infected people may have no symptoms or only mild diarrhea and abdominal discomfort but others may experience more
severe symptoms reminiscent of an acute inflammation of the intestines. Symptoms of Balantidiasis may be similar to those of other infections that cause intestinal
inflammation, for example, amoebic dysentery.
Baller-Gerold syndrome : a very rare disorder that is thought to be inherited as an autosomal recessive trait. Major features of this disorder are premature fusion or
closure of the fibrous or "soft" parts of the skull causing an upward growth of the head (craniosynostosis), a deformity of the large bone of the forearm (ulnar) causing the
bone to be short and curved, and a missing or underdeveloped short bone of the forearm (radius).
Balo Disease : a rare neurological disorder characterized by the rapid, progressive loss of the fatty covering (myelin sheath) around nerve fibers in the brain
(demyelination). This disease typically affects children, although some cases have been reported in adults. Symptoms include gradual paralysis, involuntary muscle
spasms, and other neurological problems. The symptoms of Balo Disease vary according to the areas of the brain that are affected. Damage to the brain (demyelinating
lesions) may be localized to any part of the brain (i.e., cerebrum, cerebellum, or brain stem). Lesions consist of irregular patches of demyelination in a series of
widening concentric circles. The symptoms of Balo Disease, which can be life-threatening, progress rapidly over several weeks, or more slowly over 2 to 3 years.
Bannayan-Riley-Ruvalcaba syndrome (BRR) : a rare inherited disorder characterized by excessive growth before and after birth; an abnormally large head
(macrocephaly) that is often long and narrow (scaphocephaly); normal intelligence or mild mental retardation; and/or benign tumor-like growths (hamartomas) that, in
most cases, occur below the surface of the skin (subcutaneously). The symptoms of this disorder vary greatly from case to case. In most cases, infants with
Bannayan-Riley-Ruvalcaba syndrome exhibit increased birth weight and length. As affected infants age, the growth rate slows and adults with this disorder often attain a
height that is within the normal range. Additional findings associated with Bannayan-Riley-Ruvalcaba syndrome may include eye (ocular) abnormalities such as crossed
eyes (strabismus), widely spaced eyes (ocular hypertelorism), deviation of one eye away from the other (exotropia), and/or abnormal elevation of the optic disc so that it
appears swollen (pseudopapilledema). In addition, affected infants may also have diminished muscle tone (hypotonia); excessive drooling; delayed speech development;
and/or a significant delay in the attainment of developmental milestones such as the ability to sit, stand, walk, etc. In some cases, multiple growths (hamartomatous
polyps) may develop within the intestines (intestinal polyposis) and, in rare cases, the back wall of the throat (pharynx) and/or tonsils. Additional abnormalities associated
with this disorder may include abnormal skin coloration (pigmentation) such as areas of skin that may appear "marbled" (cutis marmorata) and/or the development of
freckle-like spots (pigmented macules) on the penis in males or the vulva in females. In some cases, affected individuals may also have skeletal abnormalities and/or
abnormalities affecting the muscles (myopathy). Bannayan-Riley-Ruvalcaba syndrome is inherited as an autosomal dominant genetic trait. Bannayan-Riley-Ruvalcaba is
the name used to denote the combination of three conditions formerly recognized as separate disorders. These disorders are Bannayan-Zonana syndrome, Riley-Smith
syndrome, and Ruvalcaba-Myhre-Smith syndrome.
Bantil's syndrome : a disorder of the spleen, the large, gland-like organ in the upper left side of the abdomen that produces red blood cells before birth and in newborns,
removes and destroys aged red blood cells, and plays a role in fighting infection. Banti's Syndrome is characterized by abnormal enlargement of the spleen
(splenomegaly) due to obstruction of and abnormally increased blood pressure (hypertension) within certain veins of the liver (e.g., hepatic or portal veins) or the spleen
(splenic veins). Symptoms may include abnormal accumulation of fluid in the abdominal cavity (ascites); weakness; fatigue; abnormally low levels of circulating red
blood cells (anemia), white blood cells (leukopenia), and/or platelets (thrombocytopenia); and/or episodes of bleeding (hemorrhage) from the gastrointestinal tract.
Banti's Syndrome may be due to a number of different factors causing obstruction of portal, hepatic, or splenic veins including congenital abnormalities of such veins,
blood clots, or various underlying disorders causing inflammation and obstruction of veins (vascular obstruction) of the liver.
Bardet Biedl Syndrome : a rare disorder inherited as an autosomal recessive genetic trait. Major symptoms of this disorder may include mental retardation, obesity,
delayed sexual development or underdeveloped reproductive organs, degeneration of the retinas of the eyes, kidney abnormalities and/or abnormal fingers and/or toes.
Confusion exists in the medical literature regarding the difference between Bardet-Biedl Syndrome and Laurence-Moon Syndrome. Some researchers still believe that
Bardet-Biedl Syndrome is a subdivision of Laurence-Moon-Biedl Syndrome.
Barrett Esophagus : a rare disorder characterized by chronic inflammation and ulceration of the esophagus (esophagitis). Symptoms develop due to the chronic
occurrence of gastroesophageal reflux disease (GERD), which is a condition characterized by backflow of stomach acid into the esophagus and may include episodes of
heartburn and recurring pain behind the breastbone (sternum). Late symptoms associated with Barrett esophagus may also include a narrowing (stricture) of the
esophagus and difficulty swallowing (dysphagia).
Bartonellosis 巴東蟲病 : a rare infectious disease characterized by anemia, an abnormally high fever, and chronic skin rashes that may be accompanied by pain.
The disease is found only in South America. Sandflies that bite during the night transmit the bacteria (Bartonella bacilliformis) to humans. Treatment with antibiotics
cures this disease. However, if left untreated, the symptoms can be life-threatening.
Bartter's syndrome : also known as is hypokalemic alkalosis with hypercalciuria, is a rare inherited disorder characterized by growth deficiency, potentially resulting in
short stature; muscle weakness; cramps; and/or loss of potassium from the kidneys (renal potassium wasting). In some cases, affected individuals may exhibit mental
retardation. Individuals with Bartter's Syndrome have a disturbance in their acid-base ratio (i.e., an accumulation of base or loss of acid) associated with a loss of
potassium (hypokalemic alkalosis). Low amounts of potassium may result from overproduction of a certain hormone (aldosterone) that is essential in controlling blood
pressure and regulating sodium and potassium levels (hyperaldosteronism). The exact cause of Bartter's Syndrome is not known; in some cases, it may be inherited as
an autosomal recessive genetic trait.
Batten disease 貝敦市病: is the juvenile form of a group of progressive neurological diseases known as neuronal ceroid lipofuscinoses (NCL). It is
characterized by accumulation of a fatty substance (lipopigment) in the brain as well as in tissue that does not contain nerve cells. This lipopigment storage disorder is
inherited, and is marked by rapidly progressive vision failure (optic atrophy), and neurological disturbances, which may begin before eight years of age. Occurring
mostly in families of Northern European Scandinavian ancestry, the disorder affects the brain and may cause both deterioration of intellect and neurological functions.
In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are
linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign,

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 Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten
disease include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans.
As yet, no specific treatment is known that can halt or reverse the symptoms of Batten disease. However, seizures can sometimes be reduced or controlled with
anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. Physical therapy and occupational therapy may help patients retain
functioning as long as possible.
Mole, Sara E Batten’s disease: eight genes and still counting? Lancet 354: 443-445, 1999
Beals syndrome (congenital contractural arachnodactyly) : a rare genetic connective tissue disorder inherited as an autosomal dominant trait. The major
features of this disorder are long, thin, spiderlike fingers and toes; congenital contractures of the fingers, hips, elbows, knees and ankles; and unusual ears that appear
crumpled.
Beckwith-Wiedemann syndrome : (BWS), a rare genetic disorder, may be characterized by a wide spectrum of symptoms and physical features that vary in range
and severity from case to case. However, in many individuals with the disorder, associated symptoms and findings may include excessive size and height (gigantism); an
unusually large tongue (macroglossia); enlargement of abdominal organs (visceromegaly), such as the liver and spleen (hepatosplenomegaly); protrusion of part of the
intestines through a defect in the abdominal wall at the umbilicus or navel (umbilical hernia [exomphalos] or omphalocele); and/or enlargement of cells within the outer
layer of the adrenal glands (adrenocortical cytomegaly). Additional features may include low blood sugar levels within the first days of life (neonatal hypoglycemia);
advanced bone age, particularly up to age four; the presence of distinctive linear grooves within the ear lobes and/or other abnormalities of the head and facial area;
and/or an increased predisposition to certain childhood cancers. In most instances, BWS results from a spontaneous genetic change or changes that occur for
unknown reasons (sporadically). However, in rare cases, the disorder appears to be familial, potentially suggesting autosomal dominant inheritance. Ongoing research
indicates that sporadic or familial BWS may result from chromosomal abnormalities (e.g., inversions, translocations, trisomies) or genetic changes (e.g., mutations,
parental isodisomy) affecting proper expression of a gene or genes within a specific region of chromosome 11 (11p15). In other words, "dosage imbalance"-or loss of
expression or overexpression-of certain genes in this region may cause or contribute to the overgrowth and other findings seen in individuals with BWS. Some
investigators indicate that the human p57 (or KIP2) gene, located at chromosome 11p15.5, may play a primary role in causing the disorder. Another gene thought to play
some causative role is the IGF2 (insulin-like growth factor II) gene, also within this chromosomal region. Additional research is required to clarify the complex genetic
mechanisms that may result in BWS.
Behcet's syndrome : a rare, chronic, lifelong multisystem inflammatory disorder characterized by ulcers affecting the mouth and genitals, various skin lesions, and
abnormalities affecting the eyes. Symptoms include areas of abnormal skin changes (lesions) of the mouth (resembling canker sores) and genitals that tend to disappear
and recur spontaneously. Inflammation of the outer fibrous layers of tissue (tunic) that surround the eyes (posterior uveitis) also affects individuals with Behcet's
syndrome. Additional systems of the body may also be affected including the joints, blood vessels, central nervous system, and/or digestive tract. The exact cause of
Behcet's syndrome is unknown. Behcet's disease generally begins when patients are in their 20s or 30s, although all age groups may be affected. Behcet's is a
multisystem disease; it may involve all organs and affect the central nervous system, causing memory loss and impaired speech, balance, and movement. The effects of
the disease may include blindness, stroke, swelling of the spinal cord, and intestinal complications.
Treatment for Behcet's disease is symptomatic and supportive. Medication may be prescribed to reduce inflammation and/or regulate the immune system.
Sight-threatening eye involvement is a serious complication of Behcet’s disease. Extraocular complications such as arthritis, vascular occlusive disorders, mucocutaneous
lesions, and central-nervous-system disease may lead to morbidity and even death. We designed a prospective study in newly diagnosed patients without previous eye
disease to assess whether prevention of eye involvement and extraocular manifestations, and preservation of visual acuity are possible with combination therapy with
interferon alfa-2b, colchicine, and benzathine penicillin seems to be an effective regimen in Behcet’s disease for the prevention of recurrent eye attacks and extraocular
complications, and for the protection of vision.
Demiroglu H, Osman I, Barista I, Semra D, Bora E. Interferon alfa-2b, colchicine, and benzathine penicillin versus colchicine and benzathine penicillin in Behcet’s
disease: a randomised trial . Lancet 355 : 605-609, 2000.
Bejel 非花柳性螺旋體病 : an infectious disease that is rare in the United States but common in certain parts of the world. It is characterized by lesions of the skin
and bones. The infection is very similar to syphilis but is not sexually transmitted. The organism that causes Bejel is from the same group of bacteria that causes syphilis
(Treponema). Also known as endemic syphilis, the symptoms of Bejel occur in gradual stages, the late stage being the most severe.
Bell's palsy 貝爾氏麻痺 ( 顏面神經單側麻痺 ): a nonprogressive neurological disorder of one of the facial nerves (7th cranial nerve). It can strike almost
anyone at any age; however, it disproportionately attacks pregnant women and people who have diabetes, influenza, a cold, or some other upper respiratory ailment.
This disorder is characterized by the sudden onset of facial paralysis, which may be preceded by a slight fever, pain behind the ear on the affected side, a stiff neck, and
weakness and/or stiffness on one side of the face. In addition to one-sided facial paralysis with possible inability to close the eye, symptoms of Bell's palsy may include
pain, tearing, drooling, hypersensitivity to sound in the affected ear, and impairment of taste. Paralysis results from decreased blood supply (ischemia) and/or
compression of the 7th cranial nerve. The exact cause of Bell's Palsy is not known. Viral (e.g., herpes zoster virus) and immune disorders are frequently implicated as a
cause for this disorder. There may also be an inherited tendency toward developing Bell's Palsy. Researchers in Japan identified the common cold sore virus, herpes
simplex, as the likely cause of most cases of Bell's palsy.
There is no specific treatment for Bell's palsy. Treatment is usually aimed at protecting the eye from drying at nighttime. Some physicians may prescribe a corticosteroid
drug to help reduce inflammation and an analgesic to relieve pain.
Benign essential tremor 良性無名震顫: a neurologic movement disorder characterized by involuntary fine rhythmic tremor of a body part or parts, primarily the
hands and arms (upper limbs). In many affected individuals, upper limb tremor may occur as an isolated finding. However, in others, tremor may gradually involve
other anatomic regions, such as the head, voice, tongue, or roof of the mouth (palate), leading to difficulties articulating speech (dysarthria). Less commonly, tremor may
affect muscles of the trunk or legs. In individuals with the condition, tremor tends to occur while voluntarily maintaining a fixed posture against gravity ("postural tremor")
or while performing certain goal-directed movements ("kinetic intention tremor"). Although tremor is typically absent with rest--i.e., when the affected muscle is not
voluntary activated--some individuals with advanced disease may develop resting tremors. Although symptom onset may occur during childhood or adolescence, the
condition most commonly becomes apparent during adulthood, at an average age of 45 years. Benign Essential Tremor is generally considered a slowly progressive
disorder. Disease progression is characterized by an increase in tremor amplitude, causing difficulties in performing fine motor skills and varying degrees of functional
disability. For example, hand tremor may gradually cause difficulties with manipulating small objects, drinking fluids from a glass, eating, writing, or dressing. (As
mentioned above, in some affected individuals, disease progression may also include extension of tremor to other muscle groups.) Benign Essential Tremor may
appear to occur randomly for unknown reasons (sporadically) or be transmitted as an autosomal dominant trait. Researchers suggest that changes (mutations) of
different genes may be responsible for the disorder (genetic heterogeneity). For example, during genetic analysis of several affected families (kindreds), investigators
located a gene for the disorder, known as "FET1," on the long arm (q) of chromosome 3 (3q13). In another kindred, the disorder was determined to result from mutations
of a gene, designated "ETM2," on the short arm (p) of chromosome 2 (2p22-p25).
Bernard-Soulier syndrome : a rare inherited disorder of blood clotting (coagulation) characterized by unusually large and irregularly shaped platelets in the blood that
do not clump together normally. Affected individuals tend to bleed excessively and bruise easily. Most cases of Bernard-Soulier Disease are inherited as an autosomal
recessive genetic trait.
Berylliosis 鉍毒症(肉芽腫) : a form of metal poisoning caused by inhalation of beryllium dusts, vapors, or its compounds or implantation of the substance in the
skin. The toxic effects of beryllium most commonly occur due to occupational exposure. Beryllium is a metallic element used in many industries, including electronics,
high-technology ceramics, metals extraction, and dental alloy preparation. There are two forms of berylliosis: acute and chronic. Acute berylliosis has a sudden, rapid
onset and is characterized by severe inflammation of the lungs (pneumonitis), coughing, increasing breathlessness (dyspnea), and other associated symptoms and
findings. In addition, in some individuals, the skin or the eyes may be affected. The more common, chronic form of the disease develops more slowly and, in some cases,
may not become apparent for many years after initial beryllium exposure. Chronic berylliosis is characterized by the abnormal formation of inflammatory masses or
nodules (granulomas) within certain tissues and organs and widespread scarring and thickening of deep lung tissues (interstitial pulmonary fibrosis). Although granuloma
development primarily affects the lungs, it may also occur within other bodily tissues and organs, such as the skin and underlying (subcutaneous) tissues or the liver.
In individuals with chronic berylliosis, associated symptoms and findings often include dry coughing, fatigue, weight loss, chest pain, and increasing shortness of breath.
Biliary atresia , Extrahepatic 膽管閉鎖: a rare gastrointestinal disorder characterized by the absence of the normal opening of the bile duct into the liver (porta
hepatis). This results in the obstruction of the bile duct from outside the liver (extrahepatic), and bile that is produced in the liver is not able reach the small intestine. A
23
 less common form of Extrahepatic Biliary Atresia occurs when the blockage of the bile duct occurs in an area that is closer to the small intestine (Distal Biliary Atresia).
The exact cause of Extrahepatic Biliary Atresia is not known, although some cases may be inherited as an autosomal recessive genetic trait. Infectious agents are also
being investigated as a possible cause of this disorder.
Binswanger's disease : an extremely rare form of dementia , a progressive neurological disorder characterized by degeneration of the white matter of the brain.
Affected individuals usually experience a gradual loss of motor, cognitive, and behavioral abilities during a ten year period. In some cases, symptoms and physical
findings associated with Binswanger's Disease may stabilize or improve for a brief time; however, in most cases, progression of the disorder usually returns. Affected
individuals experience progressive memory loss and deterioration of intellectual abilities (dementia), strokes, paralysis of side of the body (hemiparesis), electrical
disturbance in the brain (seizures), and/or an abnormally slow, unsteady walk (abnormal gait). Affected individuals often become depressed, uncaring (apathetic),
inactive, unable to make decisions (abulic), hardly speak, and show poor judgment. In addition, affected individuals may exhibit difficulty forming words (dysarthria),
swallowing difficulties (dysphagia), and inability to control the release of urine (incontinence). In some cases, affected individuals may demonstrate abnormalities that are
similar to those seen in Parkinson Syndrome, such as tremors; short, shuffling steps; loss of trunk mobility; and/or loss of coordination (synergy) between upper limb and
trunk movements when walking. Individuals with Binswanger's Disease may be at greater risk to develop narrowing and hardening of blood vessels (arteriosclerosis) and
high blood pressure (hypertension) than the general population.These symptoms, which tend to begin after the age of 60, are not always present in all patients and may
sometimes appear only as a passing phase. The exact cause of Binswanger's Disease is not known.
There is no specific course of treatment for Binswanger's disease. Treatment is symptomatic, often involving the use of medications to control high blood pressure,
depression, heart arrhythmias and low blood pressure.
Babikian, V, and Ropper, A. Binswanger's disease: A review. Stroke, 18:1; 2-12 (January-February 1987).
Roman, G. Senile dementia of the Binswanger type. Journal of the American Medical Association, 258:13; 1782-1788 (October 1987).
Bjornstad Syndrome : an extremely rare inherited disorder characterized by the presence of abnormally flattened, twisted hair shafts (pili torti) and, in most cases,
deafness (sensorineural hearing loss). Hearing loss typically affects both ears (bilateral). Individuals with this disorder usually have dry, fragile, lusterless, and/or coarse
scalp hair as well as areas of patchy hair loss (alopecia). Bjornstad Syndrome is believed to be inherited as an autosomal dominant genetic trait. However, there may be
a form of Bjornstad Syndrome associated with underdevelopment of the ovaries in females and the testes in males (hypogonadism) that is inherited as an autosomal
recessive genetic trait.
Blastomycosis 芽生黴菌炎: a rare infectious multisystem disease that is caused by the fungus Blastomyces dermatitidis. The symptoms vary greatly according the
affected organ system. It is characterized by fever, chills, cough, and/or difficulty breathing (dyspnea). In the chronic phase of the disease, the lungs and skin are most
frequently affected. The genitourinary tract and bones may also be involved.
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome : (BPES) is a rare disorder that is inherited as an autosomal dominant trait. The main findings of
this disorder are eyelids that are abnormally narrow horizontally (blepharophimosis), a vertical fold of skin from the lower eyelid up either side of the nose (epicanthus
inversus), and drooping of the upper eyelids (ptosis). There are thought to be two types of the syndrome. Type I BPES, which involves female infertility, is inherited as an
autosomal dominant genetic trait and is transmitted by affected males to their offspring. Type II BPES is also transmitted as an autosomal dominant genetic trait. Males
and females can transmit the disorder to their offspring, but it is not associated with female infertility.
Blepharospasm, , Benign Essential 眼瞼痙攣: a rare disorder in which the muscles of the eyelids (orbiculares oculi) do not function properly. There are
intermittent and involuntary contractions or spasms of the muscles around the eyes. Although the eyes themselves are unaffected, the patient may eventually become
functionally blind because of an inability to open the eyelids. Benign Essential Blepharospasm is a form of dystonia, which is a group of neuromuscular disorders
characterized by muscle spasms.
Bloom syndrome : a rare inherited disorder characterized by short stature, multiple small dilated blood vessels on the face (facial telangiectasia), increased sensitivity to
light (photosensitivity), and susceptibility to infections. Later in life, some individuals with Bloom Syndrome may be at an increased risk for certain malignancies. Bloom
Syndrome is inherited as an autosomal recessive genetic trait.
Blue diaper syndrome 藍尿布病: a rare, inherited metabolic disorder characterized in infants by bluish urine-stained diapers. The incomplete intestinal breakdown
of tryptophan, a dietary nutrient, causes this disorder. Symptoms typically include digestive disturbances, fever, and visual difficulties. Some children with Blue Diaper
Syndrome may also develop kidney disease. Blue Diaper Syndrome is inherited as an autosomal recessive genetic trait.
Blue rubber bleb nevus : a very rare congenital blood vessel (vascular) disorder affecting the skin surface as well as the internal organs of the body. Multiple distinctive
nodules composed of many blood vessels (hemangiomas) are the primary feature of this disorder. These rubbery skin hemangiomas are blister-like in appearance and
vary in color, size, shape, number and site. They may be sensitive to the touch and are usually non- cancerous (benign).
Borjeson Syndrome : a very rare disorder thought to be inherited as an X-linked dominant or X-linked recessive genetic trait with less severe symptoms in females.
Major characteristics of this disorder may include an unusual facial appearance, mental retardation, seizures, short stature, delayed sexual development, muscle
weakness and/or obesity.
Botulism 臘腸毒 : a neuromuscular (paralytic) disease cause by a bacterial toxin acting in the intestine (enterotoxin) and causing neuromuscular poisoning (resulting
from clostridium botulinum toxin). There are four different forms of botulism; foodborne, wound, infantile, and an undetermined form. The most common form,
foodborne botulism, is caused when C. botulinum toxin, produced in contaminated food is ingested. Wound botulism is caused from C. botulinum toxin produced in
wounds that are contaminated with this bacterium. Infant botulism is caused by the ingestion of C. botulinum toxin spores and the production of toxin in the intestine of
affected infants. There are some documented cases of botulism in older children and adults that is clinically similiar to infant botulism.
Bowen Hutterrite syndrome : a very rare disorder inherited as an autosomal recessive genetic trait. Major symptoms may include low birth weight, a small head
(microcephaly), a prominent nose, an underdeveloped jaw (micrognathia), "rocker-bottom feet," and failure to thrive.
Bowen's disease : characterized by a precancerous, slow growing skin malignancy. The major symptom is a red-brown, scaly or crusted patch on the skin which
resembles psoriasis or dermatitis. It may occur on any part of the skin or in the mucous membranes.
Bowenoid papulosis : a rare, sexually transmitted disorder thought to be caused by human papillomavirus type 16. This disorder is characterized by lesions that are
found on the genitals of males and females. The lesions are reddish brown or violet in color, small, solid, raised and sometimes velvety.
Brain tumor, General 腦瘤 : Brain and spinal cord tumors are abnormal growths of tissue found inside the skull or the bony spinal column, which are the primary
components of the central nervous system (CNS). Benign tumors are noncancerous, and malignant tumors are cancerous. The CNS is housed within rigid, bony
quarters (i.e., the skull and spinal column), so any abnormal growth, whether benign or malignant, can place pressure on sensitive tissues and impair function. Tumors
that originate in the brain or spinal cord are called primary tumors. Most primary tumors are caused by out-of-control growth among cells that surround and support
neurons. In a small number of individuals, primary tumors may result from specific genetic disease (e.g., neurofibromatosis, tuberous sclerosis) or from exposure to
radiation or cancer-causing chemicals. The cause of most primary tumors remains a mystery. They are not contagious and, at this time, not preventable. Symptoms of
brain tumors include headaches, seizures, nausea and vomiting, vision or hearing problems, behavioral and cognitive problems, motor problems, and balance problems.
Spinal cord tumor symptoms include pain, sensory changes, and motor problems. The first test to diagnose brain and spinal column tumors is a neurological
examination. Special imaging techniques (computed tomography, and magnetic resonance imaging, positron emission tomography) are also employed. Laboratory tests
include the EEG and the spinal tap. A biopsy, a surgical procedure in which a sample of tissue is taken from a suspected tumor, helps doctors diagnose the type of
tumor.
The three most commonly used treatments are surgery, radiation, and chemotherapy. Doctors also may prescribe steroids to reduce the swelling inside the CNS.
Branchio-oculo-facial syndrome : a very rare genetic disorder that is apparent at birth (congenital). The disorder may be characterized by low birth weight; presence
of an abnormal pit, opening (cleft), or tumor-like skin abnormality (hemangiomatous or atrophic skin lesion) behind both ears (postauricular area); distinctive
malformations of the head and facial (craniofacial) area; abnormalities of the eyes; premature graying of the scalp hair during adolescence; and/or other abnormalities.
Some individuals with Branchio-Oculo-Facial Syndrome may exhibit incomplete closure of the roof of the mouth (cleft palate) and/or an abnormal groove in the upper lip
(cleft lip), while others may have an unusually wide, prominent ridge of the upper lip (philtrum) that resembles a surgically repaired cleft lip (pseudocleft). Additional
craniofacial abnormalities may include a broad, misshapen (dysplastic) nose and malformed ears. In individuals with the disorder, characteristic eye (ocular)
abnormalities may include unusually small eyes (microphthalmia); clouding of the lenses of the eyes (cataracts); crossing of the eyes at birth (congenital strabismus);

24
 widely spaced eyes (ocular hypertelorism); and/or absence of tissue (coloboma) from the colored portion of the eyes (iris), giving the iris a "keyhole" appearance.
Branchio-Oculo-Facial Syndrome is inherited as an autosomal dominant genetic trait.
Branchio-oto-renal syndrome : a rare disorder inherited as an autosomal dominant genetic trait. This disorder is characterized by pits or ear tags in front of the outer
ear, abnormal passages from the throat to the outside surface of the neck (branchial fistulas), branchial cysts, hearing loss and/or abnormal development of the kidneys.
Broad beta disease or Hyperlipoproteinemia Type III : one of a group of inherited disorders of fat metabolism known as Hyperlipoproteinemias. It is
characterized by the improper transport and storage of cholesterol (beta lipoprotein) in the body. Symptoms include multiple yellowish fatty deposits (xanthomas) under
the skin, coronary artery disease, and/or obesity. Other symptoms may include the buildup of fatty substances on the inner walls of large and medium-sized blood
vessels (atherosclerosis) and the obstruction of blood vessels by fatty deposits.
Bronchopulmonary Dysplasia (BPD) : a chronic bronchial tube and lung disease that affects infants who have been on a ventilator. The disorder usually occurs
when an infant is approximately 28 days old, has certain blood-gas and radiographic (x-ray or gamma ray) abnormalities, and has an apparent lung injury causing a
respiratory disorder. Pulmonary Distress Syndrome (lung disease in infants causing difficulty in breathing and collapsed lungs) is often also present.
Brown syndrome : a rare eye disorder characterized by defects in eye movements. This disorder may be present at birth (congenital) or may occur as the result of
another underlying disorder (acquired). Muscles control the movements of the eyes. Some of these muscles turn the eyeball up and down, move the eyeball from side to
side, or enable the eyeball to rotate slightly in its socket. The superior oblique tendon sheath of the superior oblique muscle surrounds the eyeball. The symptoms of
Brown Syndrome are caused by abnormalities of this tendon sheath including shortening, thickening, or inflammation. This results in the inability to move the affected
eye upward.
Brown-Sequard syndrome 脊髓受損引起單側麻痺 : It was first reported by Charles-Edourd Brown Sequard in 1869. A rare spinal motor disease that
affects one side of the spinal cord. It is usually caused by an injury to the neck or spinal area. In many cases, affected individuals have received some type of puncture
wound to the neck or back that has caused symptoms to appear. A lesion of the lateral halves of the spinal cord produces 1 st. loss of all sensory modalities in the same
side at the level of lesion , 2nd flaccid paralysis in the same side at the level of lesion , 3rd spastic paraparalysis in the same side below the levl of lesion, 4th loss of
vibration & position sense in the same side below the level of lesion, 5th contralateral loss of pain and temperature below the level of lesion.
Tattersall R, & Benjamin T. Brown-Sequard and his his syndrome. Lancet 356: 61-63, 2000.
Brucellosis 布魯士菌病 : a widespread infectious disease that affects livestock and may be transmitted to humans. It is caused by one of four different species of
the bacteria that belong to the genus Brucella. Brucellosis is rare in the United States but common elsewhere in the world. Initial infection may cause acute flu-like
symptoms including fever, muscle pain, headache, loss of appetite, and profuse sweating during the night. In some people, the symptoms occur suddenly, whereas, in
others, symptoms may develop over the course of a few months. If Brucellosis is not treated, the disease may take months to resolve once appropriate therapy is
begun. Brucellosis may be confined to a certain area of the body (local) or have serious widespread complications that affect the central nervous system, the spine, and
other organs of the body. Brucellosis may be prevented if people drink only pasteurized cow's and goat's milk. Pasteurization kills the bacteria that cause the disease.
However, farmers and people exposed to butchered meat may also be affected by Brucellosis.
Bubonic plague 黑死病 : an acute, severe infectious disorder caused by the bacterium (bacillus) Yersinia Pestis. These bacteria can be carried by small wild rodents,
other wild animals or even household pets. The disease can be transmitted to humans through the bites of fleas or through direct contact with infected animal tissues.
The disorder is most common in Southeast Asia, but it also occurs in some areas of the United States. Major symptoms include an abrupt onset with chills, fever, and
enlarged lymph nodes (buboes). Treatment must start immediately to avoid life-threatening complications. A milder form of Bubonic Plague, Pestis Minor, usually
resolves in approximately a week with appropriate treatment.
Budd-Chiari syndrome : a rare disorder characterized by narrowing and obstruction (occlusion) of the veins of the liver (hepatic veins). Symptoms associated with Budd
Chiari Syndrome include pain in the upper right part of the abdomen, an abnormally large liver (hepatomegaly), and/or accumulation of fluid in the space (peritoneal
cavity) between the two layers of the membrane that lines the stomach (ascites). Other findings that may be associated with the disorder include nausea, vomiting,
and/or an abnormally large spleen (splenomegaly). The severity of the disorder varies from case to case, depending upon the site and number of affected veins. In
some cases, if the major hepatic veins are involved, high blood pressure in the veins carrying blood from the gastrointestinal (GI) tract back to the heart through the liver
(portal hypertension) may be present. In most cases, the exact cause of Budd-Chiari Syndrome is not known.
Buerger's disease : a very rare disorder that, in most cases, affects young or middle-aged male cigarette smokers. It is characterized by narrowing or blockage
(occlusion) of the veins and arteries of the extremities, resulting in reduced blood flow to these areas (peripheral vascular disease). The legs are more often affected
than the arms. In most cases, the first symptom is extreme pain of the lower arms and legs while at rest. Affected individuals may also experience cramping in the legs
when they walk that, in rare cases, may cause limping (claudication). In addition, affected individuals may have sores (ulcers) on the extremities, numbness and tingling
and a lack of normal blood flow to the fingers and/or toes when exposed to cold temperatures (Raynaud's Phenomenon), and/or inflammation and clotting of certain
veins (thrombophlebitis). In severe cases, individuals with Buerger's Disease may exhibit tissue death (gangrene) of affected limbs. The exact cause of Buerger's
Disease is not known; however, most affected individuals are smokers.
Bulimia 善飢癖 : a psychiatric disorder consisting of binge eating, often followed by self-induced vomiting or purges by the use of laxatives and diuretics. The majority
of affected individuals are female.
Bullous pemphigoid 大水泡性類天皰瘡 : a rare, autoimmune, chronic skin disorder characterized by blistering. This disorder occurs most frequently in
elderly people. Generalized blistering occurs in and under the upper layers of the skin and usually subsides spontaneously within several months or years. However,
symptoms may recur. In some rare cases of Bullous Pemphigoid, complications such as pneumonia may develop.
Burning mouth syndrome : characterized by a burning sensation in the mouth and/or tongue. In some cases, this condition may be associated with vitamin B12
deficiency, oral yeast infection (candida albicans), or irritation from dental prosthetics (dentures). The burning sensation may be aggravated by hot spicy foods.

C
C syndrome : a rare disorder thought to be inherited as an autosomal recessive trait. Patients with this disorder are born with a malformation in which the head is a
triangular shape due to premature union of the skull bones (trigonocephaly), a narrow pointed forehead, a flat broad nasal bridge with a short nose, vertical folds over
the inner corners of the eyes, an abnormal palate that is deeply furrowed, abnormalities of the ear, crossed eyes (strabismus), joints that are bent or in a fixed position,
and loose skin. All recorded patients except one have had mental retardation.
Camptomelic syndrome : a rare congenital skeletal disorder that is inherited as an autosomal recessive genetic trait. It is characterized by short stature with bowing
and an angular shape of the long bones of the legs. The bones of the shoulder and pelvic area are often abnormal. Eleven pairs of ribs instead of the usual twelve
may be present. There are two forms of this disorder the long-limbed form and the short-limbed form. Other abnormalities are associated with both forms of the disorder.
Canavan disease : a rare, inherited, neurological disorder characterized by spongy degeneration of the brain (in which the white matter is replaced by microscopic
fluid-filled spaces). It is caused by a deficiency of an enzyme called aspartoacylase. Canavan disease is one of a group of genetic disorders called the leukodystrophies
that affect growth of the myelin sheath of the nerve fibers in the brain. The myelin sheath is the fatty covering surrounding nerve cells that acts as an insulator.
Symptoms of Canavan disease, which appear in early infancy and progress rapidly, may include mental retardation, loss of previously acquired motor skills, feeding
difficulties, abnormal muscle tone (i.e., floppiness or stiffness), poor head control, and megalocephaly (abnormally enlarged head). Paralysis, blindness, or hearing loss
may also occur. Although Canavan disease may occur in any ethnic group, it affects persons of Eastern European Jewish ancestry more frequently.
There is no cure for Canavan disease, nor is there a standard course of treatment. Treatment is symptomatic and supportive.
Cancer, Colon 直腸癌: one of the most common cancers found in the United States. The cause is unknown. It may be related to a high-fat low-fiber diet. In some
people, the tendency to develop colon cancer may be inherited. Cancer is a disease in which abnormal cell development occurs, causing destruction of healthy cells.
Symptoms of colon cancer may include changes in the shape or color of stools, blood in the stools, constipation and/or diarrhea, abdominal discomfort and sometimes
nausea. Surgery is generally performed to correct this type of cancer, usually along with radiation and/or chemotherapy.
Cancer, Prostate 攝副腺癌 : a prevalent form of cancer affecting only males. Cancer is a disease in which malignant cell development occurs, causing destruction of
healthy tissue. The prostate gland, responsible for sperm vitality, is about the size of a walnut and surrounds the part of the male urethra beneath the bladder. Cancer
25
 of the prostate gland commonly occurs in older men. Average age of onset is 73 years.
Cancers, Skin, General 皮膚癌: There are many different types of Skin Cancer. Combined together all types of Skin Cancer represent the most prevalent type of
cancer. Most skin cancers are characterized by changes in the color or texture of the skin, but some types begin under the skin where they can spread to other parts of
the body. Malignant melanoma is the most dangerous of this type of skin cancer.
Candidiasis 念珠菌病: a normally harmless yeast infection found in the mouth, intestinal tract, and vagina. Candidiasis is an infection caused by a fungus called
Candida; most commonly the Candida albicans variety. The Candida infection (also known as a yeast infection) usually affects the skin and/or the mucous membranes
of the mouth, intestines, or the vagina. Candida infections are rarely serious in otherwise healthy people. In rare cases, it may spread through other parts of the body if
the patient's immune system is not functioning properly. In the most severe cases it can affect the blood, the membrane lining the heart muscle (endocardium), or
membranes around the brain (meninges).
Carbamoyl phosphate synthetase deficiency 氨甲醯磷酸鹽合成脢缺乏症: (CPS) Deficiency is one of several hereditary urea cycle disorders.
These disorders are caused by a deficiency of one of the enzymes needed for the synthesis of ammonia into urea, which is normally excreted in the urine. The
deficiencies cause an excess of ammonia in the blood and body tissues. In Carbamyl Phosphate Synthetase Deficiency, the deficient enzyme is carbamyl phosphate
synthetase. If left untreated, CPS deficiency manifests itself by an elevated level of toxic ammonia in the blood (hyperammonemia). Untreated, these imbalances may
lead to brain damage, coma, and life-threatening complications. Carbamyl Phosphate Synthetase Deficiency is inherited as an autosomal recessive genetic disorder.
Carbohydrate deficient Glycoprotein Syndrome Type Ia : (CDG1A) 第 1A 型缺醣基團醣蛋白徵候群 is an extremely rare inherited
metabolic disorder belonging to a group of diseases known as Carbohydrate-deficient Glycoprotein Syndromes (CDGS). These disorders are characterized by the
presence of abnormal oligosaccharides, or "sugar chains," on many glycoproteins (e.g., transferrin). Glycoproteins are compounds in which oligosaccharides are
"attached" to certain proteins. Oligosaccharides are sugars that are linked together in a very specific manner and may help to define the function of the glycoprotein in
the body. Glycoproteins have several important functions in the body, including intercellular signaling, nutrients transport , coagulation , endocrine activities , etc.
Carbohydrate-deficient Glycoprotein Syndrome Type Ia is the most common form of CDGS and affects most systems of the body, particularly the function of the central
nervous system (i.e., the brain and spinal cord), the peripheral nervous system (i.e., motor and sensory nerves outside the central nervous system), and the liver, which
makes many of the glycoproteins in the blood. Although the severity and range of symptoms may vary from case to case, most affected individuals exhibit severe delays
in the acquisition of skills that require the coordination of mental and muscular activity (psychomotor retardation); moderate to severe mental retardation; impaired
coordination and balance (cerebellar ataxia) due to underdevelopment (hypoplasia) of certain portions of the brain (cerebellum); impaired nerve transmission to the legs,
resulting in progressive, severe muscle thinning and weakness (peripheral neuropathy); skeletal malformations; and/or visual and/or hearing impairment. CDGS Type Ia
is thought to be inherited as an autosomal recessive genetic trait. 治病機制: CDGS type 1a 患者之 phosphomannomutase( PMN)活性低於正常 50 倍。而 PMN
之基因位於染色體 22q13( PMM1 基因)及 16p13 (PMM2 基因)。 PMM2 的缺陷應該是治病的主因；PMM2 基因的突變為點突變，常見的包括 P113L,
P119L, R141H( 可致死), D188G 及 V231M 等。
Carboxylase Deficiency, Multiple 多發性羧化脢缺乏症: a genetic metabolic disorder that leads to impaired activity of three enzymes that are dependent
on the vitamin biotin: propionyl CoA carboxylase, beta-methylcrotonyl CoA carboxylase, and pyruvate carboxylase. This condition results from a defect in cellular biotin
transport or metabolism. Symptoms of the disorder include acidity of the blood and body tissues (acidosis), a widespread red skin rash, baldness, and slowed physical
development. The disorder occurs in both a neonatal and a late-onset form and is treatable.
Carcinoid syndrome 類癌徵候 : a rare, malignant disease affecting the small bowel, stomach and/or pancreas. Slow growing tumors can spread (metastasize) to
the liver, lungs and ovaries. Major symptoms include flushing, diarrhea and wheezing. The exact cause of Carcinoid Syndrome is not known.
Carcinoma, Renal Cell 腎細胞癌: a rare malignant kidney disorder. Major symptoms may include loss of kidney function, fever, weight loss, blood problems, high
levels of calcium in the system, high blood pressure, blood clots and congestive heart failure. However, the most common feature of the syndrome is the passing of
blood in the urine (hematuria).
Carcinoma, Squamous Cell 鱗狀皮膚癌: is among the most common types of skin cancer. It usually develops on the tissue of the skin and mucous lining of the
body cavities (epithelium) but may occur anywhere on the body. With appropriate treatment, it is usually curable. Squamous Cell Carcinoma most commonly affects
individuals who are exposed to large amounts of sunlight. Susceptibility is related to the amount of melanin pigment in the skin, and light-skinned persons are most
vulnerable.
Cardioauditory syndrome : a rare disorder characterized by deafness at birth, fainting spells and prolonged intervals of electrical activity in the ventricles of the heart
(prolonged QT) causing seizures and a fast, uneven heartbeat (ventricular fibrillation). Physical activity, excitement or stress may trigger the onset of these symptoms.
Cardio-auditory Syndrome is usually detected during early childhood and is inherited as an autosomal recessive trait.
Cardiofaciocutaneous Syndrome : a rare genetic disorder characterized by a distinctive facial appearance; unusually sparse, brittle, curly hair; skin abnormalities;
heart malformations that are present at birth (congenital heart defects); growth delays; and/or varying degrees of mental retardation. Individuals with the disorder
typically have distinctive malformations of the head and facial (craniofacial) area including an unusually large head (macrocephaly), a prominent forehead, and abnormal
narrowing of both sides of the forehead (bitemporal constriction); a short, upturned nose with a low nasal bridge; and/or prominent external ears (pinnae) that are
abnormally rotated toward the back of the head (posteriorly angulated). In most cases, affected individuals also have downwardly slanting eyelid folds (palpebral
fissures), widely spaced eyes (ocular hypertelorism), drooping of the upper eyelids (ptosis), inward deviation of the eyes (esotropia), and/or other eye abnormalities. In
addition to having unusually dry, brittle, curly scalp hair, affected individuals also often lack eyebrows and eyelashes. Individuals with Cardiofaciocutaneous syndrome
may also have a range of skin abnormalities, varying from areas of skin inflammation (dermatitis) to unusually dry, thickened, scaly skin over the entire body (generalized
ichthyosis). Most affected individuals also have congenital heart defects, particularly obstruction of the normal flow of blood from the lower right chamber (ventricle) of
the heart to the lungs (valvar pulmonary stenosis) and/or an abnormal opening in the fibrous partition (septum) that divides the two upper chambers (atria) of the heart
(atrial septal defects). In addition, most individuals with the disorder experience growth delays, mild to severe mental retardation, and abnormal delays in the acquisition
of skills requiring the coordination of muscular and mental activity (psychomotor retardation). In some cases, additional abnormalities may be present. According to
the medical literature, Cardiofaciocutaneous syndrome has autosomal dominant inheritance. Cases in which a positive family history has not been found are thought to
represent new genetic changes (mutations) that occur randomly, with no apparent cause (sporadic).
Carnitine Deficiency Syndromes 肉毒鹼缺乏症: a rare metabolic disorder that may be inherited in some cases, or occur as a result of other metabolic
disorders. Carnitine functions in the body as a carrier of fatty acids to the energy centers in muscles (mitochondria). A deficiency of carnitine, normally produced by the
liver and kidneys, can result in extreme muscle weakness and other related symptoms.
Carnitine Palmitoyltransferase Deficiency 肉毒鹼棕櫚醯基轉移脢缺乏症: (CPT) Deficiency is a very rare metabolic disorder that affects the
skeletal muscles and their ability to function properly. CPT Deficiency belongs to a group of diseases that involve the defective breakdown (metabolism) of muscle fats
(lipids). Prolonged periods of strenuous exercise can trigger an episode of symptoms. These may include muscle aches, stiffness, and weakness. Muscle tissue may
break down (rhabdomylosis) and abnormal levels of myoglobulin may be present in the urine (myoglobinuria). The urine may appear dark reddish-brown after prolonged
periods of exercise. Carnitine Palmitoyltransferase (CPT) Deficiency Type 1 typically affects adults and adolescents. Carnitine Palmitoyltransferase (CPT) Deficiency
Type 2 may also affect adults; however, a serious form of this type of the disease affects infants.
Carnosinemia 肌胜血症 : a very rare inherited metabolic disorder characterized by impaired neurological function and developmental delays. Symptoms that begin
during infancy may include drowsiness, seizures that may be accompanied by involuntary jerking muscle movements of the arms, legs, or head (myoclonic seizures),
and mental retardation.
Caroli disease (polycystic liver disease) : a rare inherited disorder characterized by abnormal widening (dilatation) of the ducts that carry bile from the liver
(intrahepatic bile ducts). According to the medical literature, there are two forms of Caroli Disease. In most cases, the isolated or simple form Caroli Disease, affected
individuals experience recurrent episodes of inflammation of the bile ducts (cholangitis) and unusual accumulation of pus (abscesses) on the liver. A second form of
Caroli Disease is associated with abnormal formation of bands of fibrous tissue in the portal area of the liver (congenital hepatic fibrosis). The portal area of the liver is a
groove (fissure) where the portal vein and the hepatic artery enter the liver. The portal vein is the blood vessel that carries blood from the stomach, intestine, and spleen
to the liver and the hepatic artery is the blood vessel that carries blood away from the liver. This form of Caroli Disease is also often associated with high blood pressure
26
 of the portal vein (portal hypertension), polycystic kidney disease, and, in severe cases, liver failure. Caroli Disease is thought to be inherited as either an autosomal
dominant or recessive genetic trait.
Carpal Tunnel Syndrome ( CTS ) : is a condition caused by compression of peripheral nerves affecting one or both hands. Carpal tunnel syndrome occurs when
tendons in the wrist become inflammed after being aggravated. A tunnel of bones and ligaments in the wrist narrows, pinching nerves that reach the fingers and the
muscle at the base of the thumb. The first symptoms usually appear at night. It is characterized by a sensation of numbness, tingling, burning and/or pain especially the
thumb and the index and middle fingers, to difficulty gripping or making a fist. Persons affected by this disorder may be awakened at night with the feeling that the hand
has "gone to sleep." Strain or injury involving the hand and wrist or various other disorders may cause CTS. The disorder may appear as a symptom of various other
diseases or may occur as a single primary condition.
Carpal tunnel syndrome is treated by immobilizing the wrist in a splint to minimize or prevent pressure on the nerves. If that fails, patients are sometimes given
anti-inflammatory drugs or injections of cortisone in the wrist to reduce the swelling. There is also a surgical procedure in which doctors can open the wrist and cut the
ligament at the bottom of the wrist to relieve the pressure. However, only a small percentage of patients require surgery.
Hudson, A, et. al. Carpal Tunnel Syndrome. Surgical Neurology, 47; 105-114 (1997).
Kasdan, ML, Lane, C, Merritt, WH, and Nathan, PA. Carpal tunnel syndrome: management techniques. Patient Care, 111-138 (April 1993).
Medalie, JH. Joint injections: some very good recommendations. Modern Medicine, 56; 3 (June 1988).
Testing for carpal tunnel syndrome. The Lancet, 338:8762; 479-480 (August 1991).
Wilke, WS, and Tuggle, CJ. Optimal techniques for intra-articular and periarticular joint injections. Modern Medicine, 56; 58-72 (June 1988)
Carpenter syndrome : an extremely rare inherited disorder characterized by malformations of the fingers and toes, abnormalities of the head and face (craniofacial) area,
short stature, obesity, and, in some cases, mental retardation. In approximately, 50 percent of cases, affected individuals may have congenital heart defects.
Malformations of the fingers and toes may include abnormally short fingers (brachydactyly); fifth fingers may be permanently fixed in a bent position (clinodactyly);
webbing (syndactyly) of the toes; and/or extra digits on the "big toe" sides of the feet (preaxial polydactyly). Abnormalities of the craniofacial area may include premature
closure of the fibrous joints between certain bones in the skull (craniosynostosis), underdevelopment (hypoplasia) of the jaw bones (maxilla and mandible), a
highly-arched roof of the mouth (palate), widely spaced eyes (hypertelorism), and/or low-set malformed ears. Carpenter Syndrome is inherited as an autosomal
recessive genetic trait.
Castleman's disease : a rare disorder characterized by non-cancerous (benign) growths (tumors) that may develop in the lymph node tissue throughout the body (i.e.,
systemic disease [plasma cell type]). Most often, they occur in the chest, stomach, and/or neck (i.e., localized disease [hyaline-vascular type]). Less common sites
include the armpit (axilla), pelvis, and pancreas. Usually the growths represent abnormal enlargement of the lymph nodes normally found in these areas (lymphoid
hamartoma). There are two main types of Castleman's Disease: hyaline-vascular type and plasma cell type. The hyaline vascular type accounts for approximately 90
percent of the cases. Most individuals exhibit no symptoms of this form of the disorder (asymptomatic) or they may develop non-cancerous growths in the lymph nodes.
The plasma cell type of Castleman's Disease may be associated with fever, weight loss, skin rash, early destruction of red blood cells, leading to unusually low levels of
circulating red blood cells (hemolytic anemia), and/or abnormally increased amounts of certain immune factors in the blood (hypergammaglobulinemia). A third type of
Castleman's Disease has been reported in the medical literature. This type may affect more than one area of the body (multicentric or generalized Castleman's
Disease). Many individuals with Multicentric Castleman's Disease may exhibit an abnormally large liver and spleen (hepatosplenomegaly). Researchers' opinions in the
medical literature differ as to whether Multicentric Castleman's Disease is a distinct entity or a multicentric form of the plasma cell type of Castleman's Disease.
Cat Eye Syndrome : an extremely rare chromosomal disorder in which the short arm (p) and a small portion of the long arm (q) of chromosome 22 (22pter-22q11) are
present three (trisomy) or four times (tetrasomy) rather than twice in cells of the body. Individuals with a normal chromosomal make-up have two 22nd chromosomes,
both of which have a short arm (22p) and a long arm (22q). However, in individuals with Cat Eye Syndrome, a portion of chromosome 22 (i.e., 22pter-22q11) is present
in cells of the body three (trisomic) or four times (tetrasomic) rather than the normal two. Although the symptoms and physical characteristics associated with Cat
Eye Syndrome may vary greatly in range and severity from case to case (depending on the mechanism and extent of the duplicated material), abnormalities tend to
involve the eyes, ears, the gastrointestinal and/or genital and urinary (genitourinary) tracts, the heart, the kidneys, and/or the skeletal system. Characteristic features
often associated with the disorder may include absence of tissue from the colored portion of one or both eyes (unilateral or bilateral iris coloboma), giving the iris an
unusual "keyhole" appearance; downwardly slanted openings between the upper and lower eyelids (palpebral fissures); abnormal outgrowths of skin and small
depressions in front of the outer ears (preauricular tags and pits); abnormal obstruction (atresia) of the anus; and/or the presence of abnormal passages (fistulae) from
the end portion of the large intestine (rectum) into other surrounding organs. Additional characteristic abnormalities often include congenital cardiac defects;
underdevelopment (hypoplasia) and/or absence (agenesis) of one or both kidneys and/or additional renal abnormalities; short stature, abnormal sideways curvature of
the spine (scoliosis), and/or other skeletal malformations; and/or mild to moderate mental retardation. Cat Eye Syndrome is usually the result of a spontaneous (de novo)
genetic change (mutation) that occurs for unknown reasons (sporadic).
Cat Scratch Disease : (also commonly known as Cat-Scratch Fever) is a self- limiting infectious disease characterized by swelling and pain in the lymph nodes (regional
lymphadenitis). Symptoms can vary from mild to severe, and may include achiness and discomfort (malaise), and/or loss of appetite (anorexia). In most cases a
scratch, bite, or lick of a cat is considered to be the source of the infection. Symptoms do not appear for several days after exposure and may last for several weeks.
Although Cat-Scratch Disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may speed recovery. Approximately 22,000 cases are
reported in the United States each year, although more mild cases may go unnoticed and resolve without treatment.
Cataract Dental Syndrome : an extremely rare inherited disorder that is apparent at birth (congenital). It is characterized by abnormalities of the teeth; ears that are
flared forward (anteverted) and unusually prominent; and/or clouding of the lens of the eyes (congenital cataracts), resulting in poor vision. In addition, the front (anterior),
clear portion of the eye through which light passes (cornea) may be unusually small (microcornea), and/or affected individuals may exhibit involuntary, rapid eye
movements (nystagmus). In some cases, additional physical abnormalities and/or mental retardation may also be present. The range and severity of symptoms may
vary from case to case. Cataract-Dental Syndrome, which is inherited as an X-linked recessive genetic trait, is fully expressed in males only. However, females who
carry a single copy of the disease gene (heterozygotes) may exhibit some of the symptoms associated with the disorder. These may include abnormally small corneas
(microcornea) and/or clouding of the lens of the eyes (posterior sutural cataracts). Symptoms are typically less severe than those of affected males, causing only slightly
decreased clearness or clarity of vision (visual acuity). In some cases, abnormalities of the teeth may also be present.
Cataracts 青光眼 : are abnormalities in the lens of the eye that cause a loss of transparency (opacity). They can occur either in one or in both eyes, and are quite
common in the elderly. Congenital cataracts affect infants or young children and are considered to be a rare birth defect. Cataracts tend to cause cloudy vision, and, in
many cases, may result in blindness when left untreated.
Catel Manzke Syndrome : an extremely rare genetic disorder characterized by abnormalities of the fingers and the classic physical characteristics associated with
Pierre Robin Syndrome (i.e., an abnormally small jaw [micrognathia], incomplete closure of the roof of the mouth [cleft palate], and displacement of the tongue farther
back in the mouth than usual [glossoptosis]). In all reported cases, affected infants have had an extra (supernumerary), irregularly-shaped bone located where the first
bones of the index and middle fingers (proximal phalanges) connect with the corresponding bones of the palms (metacarpals). As a result, the index fingers may be fixed
in an abnormally bent position (clinodactyly). In some cases, there may be additional abnormalities of the hand. For example, the fifth fingers may also be fixed in a bent
position (clinodactyly) and affected individuals may also have an abnormally divided (bifurcated) bone of the lower palm (metacarpal), and/or a single, deep crease
across the palms of the hands (simian crease). Due to the presence of cleft palate, glossoptosis, and micrognathia, affected infants may also experience breathing
(respiratory) difficulties; episodes characterized by difficulties with spontaneous breathing (asphyxiation); middle ear infections (otitis media); and/or feeding difficulties.
In some cases, affected infants may fail to gain the expected amount of weight or may lose weight (failure to thrive) due to such feeding difficulties. In addition, some
affected infants may also have abnormalities of the heart that are present at birth (congenital heart defects). The range and severity of symptoms may vary from case to
case. Most cases of Catel-Manzke Syndrome appear to occur randomly, for no apparent reason (sporadic).
Caudal regression syndrome 尾椎退化症: a rare disorder characterized by abnormal development of the lower spine end of the developing fetus. A wide range
of abnormalities may occur including partial absence of the tailbone end of the spine causing no apparent symptoms, to extensive abnormalities of the lower vertebrae,
pelvis, and spine. Neurological impairment as well as inability to control urination and bowel movements (incontinence) may occur in severe cases.
Cavernous hemangioma 血管瘤腔 : a rare, often congenital disorder of the venous (veins and arteries) system. The hemangioma is a mass resembling a tumor,
consisting of large blood-filled spaces which and can occur at any site in the body.

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Cayler Syndrome : also known as "Asymmetric Crying Facies with Cardiac Defects," is an extremely rare disorder characterized by congenital heart defects and the
underdevelopment or absence of one of the muscles that control the movements of the lower lip. The disorder is present at birth (congenital) and is usually first noticed
when the infant cries or smiles. Half of the lower lip cannot be drawn down and outward because of the incomplete development (hypoplasia) or absence (agenesis) of
the depressor anguli oris muscle. Congenital heart defects associated with Cayler Syndrome may include ventricular septal defects, atrial septal defects, and/or
Tetralogy of Fallot. In some rare cases, individuals may have an abnormally small head (microcephaly), unusually small jaw bones (micrognathia), small eyes
(microphthalmos), and/or mental retardation. Most cases of Cayler Syndrome are thought to be inherited as an autosomal dominant genetic trait.
Cephalic disorders are congenital conditions that stem from damage to or abnormal development of the budding nervous system. Most cephalic disorders are caused by
a disturbance that occurs very early in the development of the fetal nervous system. Damage to the developing nervous system is a major cause of chronic, disabling
disorders, and sometimes death in infants, children, and even adults. Cephalic disorders may be influenced by hereditary or genetic conditions or by environmental
exposures during pregnancy (e.g., medication taken by the mother, maternal infection, exposure to radiation). Some cephalic disorders occur when the cranial sutures
(the fibrous joints that connect the bones of the skull) join prematurely. Understanding the normal development of the human nervous system may lead to a better
understanding of cephalic disorders.
Treatments for cephalic disorders depend upon the particular type of disorder. For most cephalic disorders, treatment is only symptomatic and supportive. In some cases,
anticonvulsant medications shunts, or physical therapy are appropriate.
Celiac sprue 熱帶口瘡: a chronic, hereditary, intestinal malabsorption disorder caused by intolerance to gluten, a protein found in wheat and other grains that gives
dough its tough, elastic qualities. The illness is characterized by a flat jejunal (part of the intestine) mucosa. Clinical and/or histologic improvement of symptoms follows
the withdrawal of dietary gluten. The exact cause of celiac sprue is unknown.
Central core disease : a rare inherited neuromuscular disorder characterized by muscle weakness (hypotonia), especially of the legs. The symptoms usually begin
during the first year of life. Central Core Disease derives its name from characteristic abnormal cores in muscle cells, which are obvious under a microscope.
Central Hypoventilation Syndrome, Congenital : a rare neurological disorder of infancy and childhood characterized by malfunction of the central regulation of
breathing during sleep, resulting in a generalized decrease in respiratory function. Many tissues of the body are deprived of oxygen because the lungs do not receive
sufficient quantities of air. If left untreated, abnormally shallow breathing and deficient aeration may cause brain damage and/or life-threatening complications. The
disorder can improve with age, so early identification and assistive breathing devices during sleep are important to avoid serious long-term effects.
Cerebellar Agenesis : a rare disorder thought to be inherited as an autosomal recessive trait. Infants with this disorder are born with partial formation or total absence of
the portion of the brain that is located at the base of the skull and known as the cerebellum. Infants with partial formation of the cerebellum may have few or no
symptoms of the disorder. When total absence of the cerebellum is present, an affected infant may experience low muscle tone, uncontrollable quivering or movements,
involuntary movement of the eyes, and/or an inability to coordinate muscle movements.
Cerebellar degeneration, Subacute 腦基質變性: characterized by deterioration of the cerebellum (an area of the brain concerned with muscle coordination
and balance). It may also involve the area connecting the spinal cord to the brain such as the medulla oblongata, the cerebral cortex, and possibly the brain stem. There
are two subtypes of this disorder. The first is paraneoplastic cerebellar degeneration, which sometimes precedes the diagnosis of cancer. The second is alcoholic or
nutritional cerebellar degeneration, caused by a lack of the vitamin B-1 (thiamine) and is not related to cancer.
Cerebral aneurysm 腦血管瘤: a common cerebrovascular disorder caused by a weakness in the wall of a cerebral artery or vein. The disorder may result from
congenital defects or from preexisting conditions such as hypertensive vascular disease and atherosclerosis (build-up of fatty deposits in the arteries), or from head
trauma. Cerebral aneurysms occur more commonly in adults than in children and are slightly more common in women than in men, however they may occur at any age.
Before an aneurysm ruptures, the individual may experience such symptoms as a sudden and usually severe headache, nausea, vision impairment, vomiting, and loss
of consciousness, or the individual may be asymptomatic, experiencing no symptoms at all. Onset is usually sudden and without warning. Rupture of a cerebral
aneurysm is dangerous and usually results in bleeding in the brain or in the area surrounding the brain, leading to an intracranial hematoma (a mass of blood?usually
clotted?within the skull). Rebleeding, hydrocephalus (the excessive accumulation of cerebrospinal fluid), vasospasm (spasm of the blood vessels), or multiple
aneurysms may also occur.
Emergency treatment for individuals with a ruptured cerebral aneurysm generally includes restoring deteriorating respiration and reducing intracranial pressure. Surgery is
usually performed within the first 3 days to clip the ruptured aneurysm and to reduce the risk of rebleeding. In patients for whom surgery is considered too risky, microcoil
thrombosis or balloon embolization may be performed. Other treatments may include bed rest, drug therapy, or hypertensive-hypervolemic therapy (hypervolemic
hemodilution) to control vasospasm.
Cerebral palsy 腦性麻痺: a neurological movement disorder characterized by the lack of muscle control and impairment in the coordination of movements. This
disorder is usually a result of injury to the brain during early development in the uterus, at birth, or in the first two years of life. Cerebral Palsy is not progressive
Cerebro-costo-mandibular syndrome : an extremely rare inherited disorder characterized by an abnormally small jaw (micrognathia), malformations of the roof of
the mouth (palate), improper positioning of the tongue (glossoptosis), and abnormal development of the ribs (rib dysplasia). In most cases, such abnormalities
contribute to respiratory problems (insufficiency) during early infancy. Although some affected individuals have normal intelligence, others exhibit moderate to severe
mental retardation. Although research suggests that Cerebrocostomandibular syndrome is usually inherited as an autosomal recessive genetic trait, some cases have
also been documented in the medical literature that suggest autosomal dominant inheritance.
Cerebro-oculo-facio-skeletal syndrome : a genetic degenerative disorder of the brain and spinal cord that begins before birth. The disorder is characterized by
reduced amounts of white brain matter with gray mottling, lowered muscle tone and diminished or absent reflexes. Abnormalities of the skull, face, eyes, limbs and
other parts of the body also occur.
Chagas disease : a tropical infectious disease caused by the parasite Trypanosoma cruzi. It is transmitted by the bite of an insect (reduviid bug) or by blood transfusion.
Acute Chagas Disease usually affects children and is typically a mild phase of the disease. However, this is generally followed by a low level of parasitic infection
(parasitemia). Many years later, about 10 to 30 percent of people with Chagas Disease develop more severe symptoms associated with "chronic" Chagas Disease. The
heart and digestive systems are most frequently involved in this phase of the disease. The most common features of late chronic Chagas Disease include abnormal
enlargement of the esophagus (megaesophagus) and colon (megacolon), and congestive heart failure. Chagas Disease occurs primarily in Central and South America.
Chalazion 眼瞼腫瘤 : also known as meibomian or tarsal cyst, is a round, slowly emerging, localized swelling of the lower or upper eyelid. The usually painless,
tumor-like (granulomatous) mass is due to inflammation, obstruction, and retained secretions of one of the glands (meibomian gland) that lubricates the edge of the
eyelids. (The meibomian glands of the eyelids secrete sebum, an oily, protective fluid.) In rare cases, if the mass is large, blurred vision may result due to pressure on
the cornea, the front, clear portion of the eye through which light passes. In some affected individuals, chalazions may disappear on their own (spontaneously). However,
in other cases, treatment may be required. Individuals with chronic inflammation of the eyelids (blepharitis) may be prone to recurrences.
Chandler's syndrome : a very rare eye disorder that affects females more often that males. It usually becomes apparent during middle age and can cause increased
development in the cells lining the cornea, drying up of the iris, corneal swelling, and unusually high pressure in the eye (glaucoma). The disorder may result in vision
loss.
Charcot-Marie-tooth disease (CMT) : an inherited neurological disease characterized by a slowly progressive degeneration of the muscles in the foot, lower leg,
hand, and forearm, and a mild loss of sensation in the limbs, fingers, and toes. The first sign of CMT is generally a high arched foot or gait disturbances. Other
symptoms of the disorder may include foot bone abnormalities such as high arches and hammer toes, problems with hand function and balance, occasional lower leg
and forearm muscle cramping, loss of some normal reflexes, occasional partial sight and/or hearing loss, and, in some patients, scoliosis (curvature of the spine).
Disappearance of the protective fatty layers surrounding the nerves (segmental demyelination) of peripheral nervous system and associated degeneration of part of the
nerve cells (axons) characterize this disorder. CMT is a disorder of genetic heterogeneity, in which mutations in different genes can produce the same clinical symptoms.
In CMT, there are not only different genes but different patterns of inheritance. The most common type, CMT1A, is inherited in an autosomal dominant pattern. This
means that if one parent has CMT there is a 50 percent chance of passing the disease on to each child. Other types are autosomal recessive or sex-linked CMT. Each
type is characterized by symptoms ranging from severe weakness and wasting of leg and hand muscles to very mild symptoms or no symptoms at all. Full expression of
CMT?s clinical symptoms generally occurs by age 30. The more severe symptoms are related to an earlier age of onset.
There is no cure or specific treatment for CMT. Proper foot care including custom-made shoes and leg braces may minimize discomfort and increase function. Physical

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 therapy and moderate activity are often recommended to maintain muscle strength and endurance. For some patients, surgery may be beneficial.
Keller M.P., and Chance P.F. Inherited peripheral neuropathy Seminars in Neurology, 19:4; 353-362 (1999)
Murakami, T. Charcot-Marie-Tooth disease and related inherited neuropathies Medicine (Baltimore), 75:5; 233-250 (1996)
Charge association : a rare disorder that results from several defects during early fetal development and affects several organ systems of the body. CHARGE is an
acronym that stands for (C)oloboma of the eye, (H)eart defects, (A)tresia of the Choanae, (R)etardation of growth and development, (G)enital and Urinary anomalies,
and (E)ar anomalies. Four of these characteristic findings must be present to confirm the diagnosis of CHARGE Association. In addition to these classic findings
associated with CHARGE Association, some affected infants may also have other abnormalities including characteristic facial features, paralysis of certain facial nerves
(facial palsy), incomplete closure of the roof of the mouth (cleft palate), a vertical groove in the upper lip (cleft lip), an abnormal connection between the windpipe and the
tube that carries food from the mouth to the stomach (tracheoesophageal fistula), and/or kidney (renal) malformations. The physical findings and symptoms of individuals
with CHARGE Association may vary greatly from case to case. The exact cause of CHARGE Association is not known; most cases are thought to occur randomly, for no
apparent reason (sporadic).
Chediak-Higashi syndrome : a rare inherited form of albinism characterized by a decrease in the amount of skin coloration (decreased pigmentation) and visual
difficulties. Albinism is a group of rare inherited disorders associated with the absence at birth of color in the skin, hair, and/or eyes. White blood cell (leukocyte)
abnormalities associated with Chediak-Higashi Syndrome result in immune deficiencies. Affected individuals may have an increased susceptibility to infections and
certain cancers.
Chiari-Frommel syndrome : a rare endocrine disorder that affects females who have recently given birth (postpartum) and is characterized by the production of breast
milk (lactation), lack of ovulation (anovulation), and the absence of regular menstrual periods (amenorrhea). In Chiari-Frommel Syndrome, these symptoms persist long
after childbirth. The absence of normal hormonal cycles may result in reduced size of the uterus (atrophy). Some cases of Chiari-Frommel Syndrome resolve completely
without treatment (spontaneously); hormone levels and reproductive function return to normal.
Chikungunya : a rare viral infection transmitted by the bite of an infected mosquito. It is characterized by a rash, fever, and severe joint pain (arthralgias). Chikungunya
primarily occurs in tropical areas of the world.
Chlamydia 衣型病毒: a sexually transmitted bacterial infection with symptoms similar to those of gonorrhea. Until recently, chlamydia was identified primarily when a
certain type of eye infection (trachoma) appeared as a symptom. Initially, the symptoms of chlamydia are usually mild and may not be recognized. In rare cases,
chlamydia may have serious complications, if left untreated. Individuals who are sexually active and have multiple sex partners are especially at risk for this disease.
Since many people with chlamydia do not realize that they have this infection, they may not seek treatment until serious complications occur. Meanwhile, they may have
unknowingly spread the disease to others through sexual activity. Treatment with antibiotics is generally successful; however prevention is the primary course of action.
Cholangitis, Primary Sclerosing : a rare progressive disorder characterized by inflammation, thickening, and abnormal formation of fibrous tissue (fibrosis) within the
passages that carry bile from the liver (bile ducts). This often results in the obstruction or interruption of bile flow from the liver (cholestasis). Symptoms associated with
primary sclerosing cholangitis include fatigue and itching (pruritis), followed by yellowing of the skin, mucous membranes, and whites of the eyes (jaundice). In addition,
affected individuals may have dark urine, light-colored stools, abdominal pain, and/or nausea. In some cases, the liver may also become abnormally enlarged
(hepatomegaly). According to the medical literature, approximately 50 to 75 percent of individuals with primary sclerosing cholangitis may also have ulcerative colitis.
The exact cause of primary sclerosing cholangitis is not known.
Cholecystitis 膽囊炎: inflammation of the gallbladder, the pear-shaped muscular sac that lies below the liver. The gallbladder�s main function is to store and
concentrate bile and to expel the bile through the bile duct during the digestion of fats. (Bile is a greenish-brown liquid produced by the liver that breaks down fats
present in the small intestine during digestion.) Cholecystitis may come on suddenly (acute) or may persist over a period of time (chronic). Acute cholecystitis is usually
caused by obstruction of the outlet of the gallbladder, which is often due to the development of a stone formed in the biliary tract (gallstone or biliary calculus).
Repeated mild episodes of acute cholecystitis may result in chronic cholecystitis, which may be characterized by thickening and shrinking of the gallbladder walls and a
resulting inability to store bile. Cholecystitis may cause a variety of symptoms including severe pain in the right side of the abdomen (right upper quadrant) and/or back,
nausea, vomiting, indigestion, fever, and persistent yellowing of the skin, mucous membranes, and whites of the eyes (jaundice). In some cases, there may be additional
symptoms.
Cholera 霍亂 : an acute infectious disease caused by the bacterium Vibrio cholerae, which lives and multiples (colonizes) in the small intestine but does not destroy or
invade the intestinal tissue (noninvasive). The major symptom of cholera is massive watery diarrhea that occurs because of a toxin secreted by the bacteria that
stimulates the cells of the small intestine to secrete fluid. There are several strains of V. cholerae and the severity of the disease is based on the particular infectious
strain. Cholera is not a difficult disease to treat and most people recover well with appropriate oral fluid replacement (hydration). However, if the disease goes
untreated, it can rapidly lead to shock and life-threatening complications.
Cholestasis 膽汁鬱留 : a relatively rare syndrome that results when the flow of bile from the liver is impaired. Bile is a fluid secreted by the liver that passes, via the
bile duct, into the intestine where it is essential for the digestion of fats. The many causes of cholestasis produce different symptoms. Common symptoms are dark urine,
pale stools, and itchy (pruritic) and yellowed (jaundiced) skin.
Chondrocalcinosis, Familial Articular 軟骨石灰沉著 : a rare inherited metabolic disorder characterized by deposits of calcium pyrophosphate dihydrate
crystals (CPPD) in one or more joints of the body. Symptoms may develop due to decreased activity of the enzyme pyrophosphohydrolase. The symptoms of familial
articular chondrocalcinosis mimic those of classical gout and may include swelling, stiffness, and pain, usually in one joint. The knee is most commonly affected. Most
cases of familial articular chondrocalcinosis are inherited as an autosomal dominant genetic trait.
Chorea, Sydenham's 舞蹈症 : a non-progressive neurological movement disorder characterized by spontaneous movements, lck of coordination of voluntary
movements, and muscular weakness. This disorder may occur following a streptococcal infection such as Rheumatic Fever, Meningitis or Scarlet Fever.
Choroideremia 脈絡膜缺失: a genetic disorder of sight that usually affects males. Female carriers may have mild symptoms without loss of vision. Major symptoms
include a progressive loss of the central field of vision and night blindness during childhood.
Choroiditis, Serpiginous 脈絡膜炎: a rare recurrent eye disorder characterized by irregularly-shaped (serpiginous) lesions involving two layers of the eye surface
(the retinal pigment epithelium and the choriocapillaris). No symptoms are apparent unless a specific area of the retina (macula) is damaged. A sudden, painless
decrease in vision in one eye may be the first sign of Serpiginous Choroiditis. Both eyes are commonly affected, although the second eye may not develop lesions for
weeks to years after the first eye. The exact cause of Serpiginous Choroiditis is not known.
Chromosome 10, Distal Trisomy 10q 第 10 號染色體長臂尾端三套型: an extremely rare chromosomal disorder in which the end (distal) portion of
the long arm (q) of one chromosome 10 (10q) appears three times (trisomy) rather than twice in cells of the body. The disorder is characterized by unusually slow growth
before and after birth (prenatal and postnatal growth retardation); abnormally diminished muscle tone (hypotonia); severe mental retardation; and severe delays in the
acquisition of skills requiring coordination of mental and muscular activities (psychomotor retardation). Affected infants and children may also have distinctive
malformations of the head and facial (craniofacial) area; defects of the hands and/or feet; and/or skeletal, heart (cardiac), kidney (renal), and/or respiratory (pulmonary)
abnormalities. The range and severity of symptoms and physical findings may vary from case to case, depending upon the exact length and location of the duplicated
portion of chromosome 10q. In most cases, Chromosome 10, Distal Trisomy 10q is due to a chromosomal balanced translocation in one of the parents.
Chromosome 10, Monosomy 10p 第 10 號染色體短臂單套型: a very rare chromosomal disorder in which the end (distal) portion of the short arm (p) of
chromosome 10 is missing. Major physical symptoms may include a small underdeveloped jaw (micrognathia), bulging of bone on the front of the head (frontal bossing),
drooping eyes, small ears, an unusually small head (microcephaly), and/or other unusual head and facial features. Delayed development, heart defects, abnormalities of
the reproductive organs, and/or urinary tract defects may also be present in infants with this disorder. Mental retardation often occurs. Many reported cases of this
disorder occur for no apparent reason (de novo). Genetic testing is standard for the diagnosis of chromosomal disorders such as Chromosome 10, Monosomy 10p.
Chromosome 11, Partial Monosomy 11q 第 11 號染色體長臂部分單套型: a rare chromosomal disorder in which a portion of the long arm (q) of
chromosome 11 is missing (deleted or monosomic). The range and severity of symptoms may vary, depending upon the exact size and location of the deletion on 11q.
Chromosome 11, Partial Monosomy 11q may be characterized by abnormally slow growth before and after birth (prenatal and postnatal growth retardation), mental
retardation, and/or moderate to severe delays in the acquisition of skills requiring the coordination of mental and muscular activity (psychomotor retardation).
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 Characteristic physical abnormalities may include malformations of the head and facial (craniofacial) area, abnormalities of the eyes, malformations of the hands and/or
feet, and/or defects of the heart. The exact cause of Chromosome 11, Partial Monosomy 11q is not fully understood.
Chromosome 11, Partial Trisomy 11q 第 11 號染色體長臂部分三套型 : a very rare chromosomal disorder caused by a duplication (trisomy) of the
end (distal) portion of the long arm of chromosome 11. This disorder is usually apparent at birth and is characterized by delayed mental and physical development,
retarded growth of the fetus during pregnancy and of the child after birth, an unusually small brain (microencephaly), and/or distinctive facial features. Chromosomal
analysis is necessary for a definite diagnosis.
Chromosome 13, Partial Monosomy 13q 第 13 號染色體長臂部分單套型: a rare chromosomal disorder in which a portion of the long arm (q) of
chromosome 13 is missing (deleted or monosomic). The range and severity of symptoms may vary greatly, depending upon the exact size and location of the deletion on
13q. Chromosome 13, Partial Monosomy 13q is usually apparent at birth and may be characterized by low birth weight, malformations of the head and facial
(craniofacial) area, abnormalities of the eyes, defects of the hands and/or feet, genital malformations in affected males, and/or additional physical abnormalities. Affected
infants and children may also exhibit delays in the acquisition of skills requiring the coordination of mental and muscular activity (psychomotor retardation) as well as
varying degrees of mental retardation. In the majority of cases, Chromosome 13, Partial Monosomy 13q appears to occur randomly, for no apparent reason (sporadic).
Chromosome 14 Ring 第 14 號染色體環狀融合: a rare chromosomal disorder that is diagnosed through analysis of the chromosomes (cytogenetic studies).
Major features of this disorder include growth retardation, mental retardation, seizures, and an unusually small head (microcephaly). Distinct facial features in
individuals with Chromosome 14 Ring include a long face, narrow-shaped eyes, and a broad nasal bridge.
Chromosome 14, Trisomy Mosaic 第 14 號染色體三套嵌入型: a very rare chromosomal disorder in which an extra chromosome 14 is present in some of
the cells of the affected individual's body. Characteristic features include delayed growth of the fetus during pregnancy and/or of the child after birth, a wide nasal bridge,
unusually small jaws (micrognathia), developmental delays, and mental retardation. Heart disease is present at birth (congenital) in most cases. This disorder is usually
apparent at birth and may be diagnosed during pregnancy or after birth (prenatally or postnatally) by chromosomal analysis.
Chromosome 15 Ring 第 15 號染色體環狀融合: a rare chromosomal disorder in which the affected infant has a ring formation of chromosome 15 caused by
the breakage of the chromosome at both ends and joining of the ends to form a ring. The amount of genetic material lost at the two ends of the chromosome may vary.
As a result, an infant with very little absent genetic material may have no apparent symptoms while an infant with a significant part of the chromosomal ends missing
may have many symptoms. The most apparent features of this disorder are delayed growth, a small head circumference, triangular shaped face, poor muscle tone,
and mental retardation.
Chromosome 15, Distal Trisomy 15q 第 15 號染色體長臂尾端三套型: an extremely rare chromosomal disorder in which the end (distal) portion of the
long arm (q) of the 15th chromosome (15q) appears three times (trisomy) rather than twice in cells of the body. The disorder is characterized by growth delays before
and/or after birth (prenatal and/or postnatal growth retardation); mental retardation; and/or distinctive malformations of the head and facial (craniofacial) area. Additional
abnormalities typically include an unusually short neck; malformations of the fingers and/or toes; abnormal sideways curvature of the spine (scoliosis) and/or other
skeletal malformations; genital abnormalities, particularly in affected males; and/or, in some cases, heart (cardiac) defects. The range and severity of symptoms and
physical findings may vary from case to case, depending upon the length and location of the duplicated portion of chromosome 15q. In most cases, Chromosome 15,
Distal Trisomy 15q is due to a chromosomal balanced translocation in one of the parents.
Chromosome 18, Monosomy 18p 第 18 號染色體短臂單套型 : (第 18 號染色體短臂部分缺失) is characterized by unusual facial
characteristics and mild to severe mental retardation. The affected individual often has an I.Q. averaging between 45 to 50. In some individuals, however, there has been
no mental deficiency at all. Language is often affected, and many people with Chromosome 18, Monosomy 18p may not speak simple sentences until seven to nine
years of age. Restlessness, emotional "ups and downs," a fear of strangers, and lack of concentration are frequent behavioral characteristics.
Chromosome 18, Ring 第 18 號染色體環狀融合: a rare chromosomal disorder in which an affected infant has a ring formation of chromosome 18 caused by
the breakage of the chromosome at both ends and joining of the ends to form a ring. The amount of material lost at the two ends of the chromosome may vary. As a
result, an infant with very little absent genetic material may have no apparent symptoms, while an infant with a significant part of the chromosomal ends lost, may have
many symptoms. The most apparent features of this disorder are mental retardation, unusual facial features, a small head and poor muscle tone. The diagnosis of
Chromosome 18, Ring can only be made through chromosomal analysis (cytogenetic analysis).
Chromosome 18, Tetrasomy 18p 第 18 號染色體短臂四套型 : a very rare chromosomal disorder in which the short arm of the 18th chromosome (18p)
appears four times (tetrasomy) rather than twice in cells of the body. Individuals with a normal chromosomal make-up (karyotype) have two 18th chromosomes, both of
which have a short arm ("18p") and a long arm ("18q"). However, in individuals with Chromosome 18, Tetrasomy 18p, four short arms (18ps) are present in cells of the
body rather than the normal two. The symptoms of Chromosome 18, Tetrasomy 18p may vary from case to case. Many affected individuals may have abnormalities of
the head and facial (craniofacial) area; malformations of the spine, hands, and/or feet; neuromuscular abnormalities, such as increased muscle tone (hypertonia),
increased reflex reactions (hyperreflexia), and difficulty coordinating movement; kidney (renal) malformations; and/or additional physical abnormalities. In addition,
children and adults with Chromosome 18, Tetrasomy 18p often exhibit moderate to severe mental retardation, limitations in speech, and/or behavioral abnormalities. In
most cases, Chromosome 18, Tetrasomy 18p is the result of a spontaneous (de novo) genetic change (mutation) early in embryonic development that occurs for
unknown reasons (sporadic).
Chromosome 18q- Syndrome 第 18 號染色體長臂缺失徵候群: a rare congenital chromosomal disorder caused by a deletion of a piece of the long arm
(q) of chromosome 18. The amount of genetic material that is missing may vary. As a result, affected infant with very little absent genetic material may have no apparent
symptoms, while a infant with a significant part of the long arm of chromosome 18 missing may have many symptoms. The most apparent and common symptoms of this
disorder are mental retardation, short stature, a flat midface, poor muscle tone, a small head and unusual facial features.
Chromosome 21 Ring 第 21 號染色體環狀融合: a rare chromosomal disorder in which the affected infant has a breakage of chromosome 21 at both ends,
and the ends of the chromosome join together to form a ring. The amount of genetic material lost at the two ends of the chromosome may vary. As a result, an infant with
very little absent genetic material may have no apparent symptoms while an infant with a significant part of the chromosomal ends missing may have many symptoms.
When symptoms of the disorder are present, the affected infant may have mental retardation as well as abnormalities of the face, eyes, skeleton, and/or internal organs.
Chromosome 22 Ring 第 22 號染色體環狀融合: a rare chromosomal disorder in which the affected infant has a breakage of chromosome 22 at both ends,
and the ends of the chromosome join together to form a ring. The amount of genetic material lost at the two ends of the chromosome may vary. As a result, an infant with
very little absent genetic material may have no apparent symptoms while an infant with a significant part of the chromosomal ends missing may have many symptoms.
The most apparent features of this disorder are mental retardation, lack of coordination of voluntary movements, and muscle weakness.
Chromosome 22, Trisomy Mosaic 第 22 號染色體三套嵌入型: a rare chromosomal disorder in which an extra chromosome 22 is present in some of the
cells of the affected individual's body. The severity of symptoms may depend on the percentage of cells with the extra chromosome (trisomy). Characteristic features
include unequal development of the two sides of the body (hemidystrophy), a shortened limb, and a webbed neck. This disorder is usually apparent at birth, and may be
diagnosed during pregnancy or after birth (prenatally or postnatally) through specialized testing. Chromosomal testing is necessary for a definite diagnosis.
Chromosome 3, Monosomy 3p2 第 3 號染色體短臂單套第 2 型: a very rare chromosomal disorder in which the end of the short arm of chromosome 3
(distal portion) is missing. Major symptoms may include failure of the fetus to grow during pregnancy and/or severely delayed growth of the child after birth. Mental
retardation and/or severe to profound delays in development may also occur. Characteristic abnormalities include an unusually small head (microcephaly), eyebrows
that grow together (synophrys), and/or excessive growth of the hair (hypertrichosis). Developmental delays and unusual facial characteristics usually make this disorder
apparent in the first years of life.
Chromosome 3, Trisomy 3q2 第 3 號染色體長臂三套第 2 型 : a very rare chromosomal disorder caused by a duplication of a portion of the long arm (q)
of chromosome 3. The disorder, usually evident at birth (congenital), may be characterized by mental retardation, developmental delays, and/or multiple craniofacial
abnormalities. These may include a low hairline, widely-spaced eyes, connected bushy eyebrows, and/or an elongated or widened head. Malformations of the heart, the
kidneys, and/or other internal organs, and/or abnormalities of the limbs, particularly the hands and toes, may also occur. Genetic analysis and chromosomal testing are
necessary for a definite diagnosis.

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Chromosome 4 Ring 第 4 號染色體環狀融合: a rare chromosomal disorder in which the affected infant has a breakage of chromosome 4 at both ends, and
the ends of the chromosome join together to form a ring. The amount of genetic material lost at the two ends of the chromosome may vary. As a result, an infant with
very little absent genetic material may have fewer symptoms than an infant with a significant part of the chromosomal ends missing. The most consistent features of this
disorder are slowed growth and development, an abnormally small head (microcephaly), beaked nose, unusually small jaw bones (micrognathia), and/or incomplete
closure of the roof of the mouth (cleft palate).
Chromosome 4, Monosomy 4q 第 4 號染色體長臂單套型: a chromosomal disorder caused by a partial deletion of the long arm of chromosome 4. The
patient may have an extremely prominent forehead (frontal bossing), enlargement of the back part of the head, low placement of ears, short broad hands and feet,
unusually small size associated with slow or delayed growth, congenital heart defects, and possible mental retardation.
Chromosome 4, Monosomy Distal 4q 第 4 號染色體長臂尾端單套型: a rare disorder in which there is a deletion of an end piece of the long arm (q)
of chromosome 4. The majority of cases of this disorder occur during embryonic development for no apparent reason (de novo). The major symptoms of Chromosome 4,
Monosomy Distal 4q are mental retardation and unusual facial features. Heart defects as well as limb deformities may also be present.
Chromosome 4, Partial Trisomy Distal 4q 第 4 號染色體長臂尾端部分三套型: an extremely rare chromosomal disorder caused by a duplication
of the end (distal) portion of the long arm (q) of the fourth chromosome. The symptoms of this disorder vary from case to case and may include an abnormally small
head (microcephaly); malformations of the arms, legs, and head and facial (craniofacial) area; and/or mental retardation. Chromosome 4, Partial Trisomy Distal 4Q
usually occurs because of a balanced translocation between two chromosomes of one of the parents. Some cases have occurred for no apparent reason (de novo)
and are not inherited. Chromosomal analysis is necessary for a definite diagnosis.
Chromosome 4, Trisomy 4p 第 4 號染色體短臂三套型: Trisomies are rare chromosomal abnormalities. Chromosomes are found in the nucleus of all body
cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y
chromosomes for males, and two X chromosomes for females. People with a trisomy have an extra chromosome added to one of the normal pairs. Each chromosome
has a short arm designated as "p," and a long arm designated "q." Trisomy 4p is a chromosomal disorder in which there is an additional piece added to the short arm of
chromosome 4. Although the symptoms vary depending on the amount of duplication of the short arm "p" of chromosome 4, the most frequent features of this disorder
are characteristic facial features, slowed growth after birth, abnormally slow mental and muscular movement (psychomotor retardation), and various other major and
minor abnormalities. Trisomy 4p is diagnosed through chromosomal testing.
Chromosome 5, Trisomy 5p 第 5 號染色體短臂三套型: a very rare chromosomal disorder caused by a duplication of all or part of the short arm of
chromosome 5. Chromosome 5, Trisomy 5p is characterized by normal birth weight, an abnormally small head (microcephaly), malformations of the face (facial
dysmorphism), lack of muscle tone (hypotonia), mental retardation, and/or delayed motor development (psychomotor retardation).
Chromosome 6 Ring 第 6 號染色體環狀融合: a rare chromosomal disorder in which the affected infant has a breakage of chromosome 6 at both ends, and
the ends of the chromosome join together to form a ring. The amount of genetic material lost at the two ends of the chromosome can vary. As a result, an infant with very
little absent genetic material may have no apparent symptoms while an infant with a significant part of the chromosomal ends missing may have many symptoms. The
most apparent features of this disorder are mild to severe mental retardation, delays in growth and self-controlled muscle movement (psychomotor retardation), a
small head circumference and jaw, low-set ears, a flat nasal bridge, and/or abnormalities of the eyes.
Chromosome 6, Partial Trisomy 6q 第 6 號染色體長臂尾端三套型 : an extremely rare chromosomal disorder in which the end (distal) portion of the
long arm (q) of the 6th chromosome (6q) appears three times (trisomy) rather than twice in cells of the body. This disorder is characterized by abnormalities of the head
and facial (craniofacial) area; an unusually short, webbed neck; and/or joints that are fixed in a bent position (flexion contractures) in the hands, feet, and/or other areas
of the body. Many affected individuals also exhibit unusually slow physical development (growth retardation), a delay in the acquisition of skills requiring coordination of
muscular and mental activity (psychomotor retardation), and/or mental retardation. The range and severity of symptoms may vary from case to case, depending upon
the length and location of the duplicated portion of chromosome 6q. In most cases, Chromosome 6, Partial Trisomy 6q may be the result of an error during very early
development of the embryo if one of the parents has a balanced chromosomal rearrangement.
Chromosome 7, Monosomy 7p2 第 7 號染色體短臂單套第二型: an extremely rare chromosomal disorder in which the end portion of the short arm (p)
of chromosome 7 is missing. Major symptoms may involve characteristic abnormalities of the head and face (craniofacial area) such as the premature closure of the joints
(sutures) that unite the larger craniofacial bones (craniosynostosis). Premature closure of the sutures on the sides of the head (scaphocephaly) may cause the head to
appear abnormally long and narrow. In addition, the forehead may have an abnormally triangular-shaped appearance (trigonocephaly). Other abnormalities may include
skeletal malformations of the fingers and feet; underdevelopment of the heart, kidneys, and colon; and/or abnormal reproductive organs in both genders. Affected individuals
may also exhibit growth delays, developmental delays, and mental retardation. The degree of these abnormalities may vary from moderate to severe. The majority of the
documented cases of Chromosome 7, Monosomy 7p2 occur for no apparent reason (de novo). Chromosomal testing and genetic analysis are necessary for a definite
diagnosis.
Chromosome 8, Monosomy 8p2 第 8 號染色體短臂單套型 : a very rare chromosomal disorder in which a portion of the short arm (p) of chromosome 8
is missing. Major physical symptoms and characteristics may include an abnormally small head (microcephaly); extra folds of skin at the inner corners of the eyes
(epicanthal folds); a short, nubbed nose; and/or a broad chest with widely- spaced, underdeveloped nipples. Prenatal or postnatal growth delays, congenital heart
defects, and/or genital abnormalities particularly in males may also exist. Mental retardation may vary from mild to severe. This disorder may be due to a chromosomal
abnormality in one parent (balanced translocation) or occur for no apparent reason (de novo). Genetic analysis and chromosomal testing are necessary for a definite
diagnosis.
Chromosome 9 Ring 第 9 號染色體環狀融合: a rare chromosomal disorder in which the affected infant has a breakage of chromosome 9 at both ends, and
the ends of the chromosome join together to form a ring. The amount of genetic material lost at the two ends of the chromosome may vary. As a result, an infant with
very little absent genetic material may have no apparent symptoms, while an infant with a significant part of the chromosomal ends missing may have more severe
symptoms. Symptoms of this disorder may include unusual facial features, heart defects, moderate to severe mental retardation, and skeletal abnormalities.
Chromosome 9, Partial Monosomy 9p 第 9 號染色體短臂部分單套型: a rare chromosomal disorder in which the end (distal) portion of the short arm
(p) of chromosome 9 is missing (deleted). This disorder is usually apparent at birth and is characterized by distinctive facial features, abnormalities of the hands and feet,
genital malformations in affected males and females, additional physical abnormalities, and varying degrees of mental retardation. In the majority of cases, Chromosome
9, Partial Monosomy 9p is the result of a spontaneous (de novo) genetic change very early in embryonic development that occurs for unknown reasons (sporadic).
Chromosome 9, Tetrasomy 9p 第 9 號染色體短臂四套型: a very rare chromosomal disorder in which the short arm of the ninth chromosome (9p) appears
four times (tetrasomy) rather than twice in cells of the body. Individuals with a normal chromosomal make-up (karyotype) have two 9th chromosomes, both of which have
a short arm ("9p") and a long arm ("9q"). However, in individuals with Chromosome 9, Tetrasomy 9p, four short arms (9ps) are present in cells of the body rather than the
normal two. The symptoms of Chromosome 9, Tetrasomy 9p can vary from case to case. Affected individuals may exhibit developmental abnormalities, such as mild
growth retardation and/or a moderate to severe delay in the attainment of skills requiring the coordination of muscular and mental activity (psychomotor retardation).
Moderate to severe mental retardation may also be present. In addition, people with the disorder may display a variety of physical abnormalities, such as malformations
of the head and facial (craniofacial) area, abnormalities of the hands and fingers, skeletal malformations, and heart (cardiac) defects. Chromosome 9, Tetrasomy 9p is
the result of a spontaneous (de novo) genetic change (mutation) early in embryonic development that occurs for unknown reasons (sporadic).
Chromosome 9, Trisomy 9p (Multiple Variants) 第 9 號染色體短臂三套型(多種變異): a rare chromosomal disorder in which part or all of the
short arm (p) of chromosome 9 is present three times (trisomy) rather than twice in the cells of the body. In some cases, an extra (trisomic) segment of the long arm (q)
of chromosome 9 may also be present. The symptoms of this disorder are unusually similar among affected infants despite differing lengths of the duplicated segment
and are thought to relate to extra chromosomal material on the end (distal) portion of the short arm (9p). Chromosome 9, Trisomy 9p is characterized by mental
retardation, characteristic physical abnormalities of the head and facial (craniofacial) area, and/or skeletal malformations. In about 25 percent of infants with this disorder,
heart defects are present at birth (congenital). Affected infants may also experience growth retardation and a significant delay in the acquisition of language and
communication skills. In some cases of Chromosome 9, Trisomy 9p occurs because of a balanced chromosomal rearrangement between two chromosomes of one of
the parents; other cases are the result of a spontaneous (de novo) genetic change early in embryonic development that occurs for unknown reasons. Chromosomal
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 analysis is necessary for definite diagnosis.
Chromosome 9, Trisomy Mosaic 第 9 號染色體三套嵌入型: a rare chromosomal disorder in which an extra chromosome 9 is present in some of the cells
of the affected individual's body. The severity of symptoms may depend on the percentage of cells with the extra chromosome (trisomy). Characteristic features include
delayed growth of the fetus, heart defects present at birth, facial abnormalities (e.g., low-set and/or malformed ears), an abnormally small head, kidney and/or genital
abnormalities, skeletal abnormalities (e.g., fixed and/or dislocated joints), and/or malformations of the brain.
Chronic Fatigue Syndrome (CFS) 慢性倦怠徵候群 is a disorder characterized by profound fatigue and other related symptoms. Standards for the diagnosis of
CFS have been defined by researchers and the Centers for Disease Control (CDC). These include excessive fatigue or easy fatigability that does not respond to bed
rest. The fatigue is severe enough to reduce the average daily activities of the affected individual by at least 50 percent. The onset of these symptoms is usually sudden,
sometimes following a flu-like illness. According to the CDC, the profound fatigue must last for at least six months in order for the diagnosis to be confirmed. The
syndrome may persist for months or years, and disappear without treatment. The many symptoms of Chronic Fatigue Syndrome do not always occur with the same
degree of severity or at the same time. There are usually instances when symptoms may disappear for periods of time. Scientists believe Chronic Fatigue Syndrome is
not contagious and laboratory tests (blood, urine, etc.) are of little value in diagnosing the syndrome.
Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) 多發性去髓鞘神經變性引發之慢性發炎 is a rare disorder in which there is
swelling of nerve roots and destruction of the fatty protective covering (myelin sheath) over the nerves. This disorder causes weakness, paralysis and/or impairment in
motor function, especially of the limbs. Sensory loss may also be present causing numbness (beginning in the toes and fingers), tingling, or prickling sensations. The
motor and sensory impairments are usually symmetrical (on both sides of the body), and the degree of severity may vary. The course of CIDP may also vary. Some
affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that wax and wane, with the most severe symptoms occuring after
many months or a year or more. One feature that distinguishes this disorder from other similar disorders is that there is typically no preceding viral infection at least three
months prior to the appearance of the disorder, and no family history of other similar disorders or polyneuropathy.
The disorder, which is sometimes called chronic relapsing polyneuropathy, is caused by damage to the myelin sheath of the peripheral nerves. CIDP is closely related to
acute Guillain-Barr syndrome and it is considered the chronic counterpart of the acute disease.
Treatment for CIDP includes corticosteroids such as prednisone, which may be prescribed alone or in combination with immunosuppressant drugs. Plasmapheresis
(plasma exchange) and intravenous immunoglobulin (IVIg) therapy are effective. IVIg may be used even as a first-line therapy. Physiotherapy may improve muscle
strength, function and mobility, and minimize the development of contractures.
Churg Strauss Syndrome : a rare disorder that may affect multiple organ systems, particularly the lungs. The disorder is characterized by the formation and
accumulation of an unusually large number of antibodies, abnormal clustering of certain white blood cells (eosinophilia), inflammation of blood vessels (vasculitis), and
the development of inflammatory nodular lesions (granulomatosis). Many individuals with Churg-Strauss Syndrome have a history of allergy. In addition, asthma and
other associated lung (pulmonary) abnormalities (i.e., pulmonary infiltrates) often precede the development of the generalized (systemic) symptoms and findings seen in
Churg-Strauss Syndrome by one or more years. Asthma, a chronic respiratory disorder, is characterized by inflammation and narrowing of the lungs�airways, causing
difficulties breathing (dyspnea), coughing, the production of a high-pitched whistling sound while breathing (wheezing), and/or other symptoms and findings.
Nonspecific findings associated with Churg-Strauss Syndrome typically include flu-like symptoms, such as fever, a general feeling of weakness and fatigue (malaise),
loss of appetite (anorexia), weight loss, and muscle pain (myalgia). Additional symptoms and findings may be variable, depending upon the specific organ systems
involved. Without appropriate treatment, serious organ damage and potentially ife-threatening complications may result. Although the exact cause of Churg-Strauss
Syndrome is unknown, many researchers indicate that abnormal immunologic and autoimmune factors play an important role.
Ciguatera Fish Poisoning : a rare disorder that occurs because of the ingestion of certain contaminated tropical and subtropical fish. When ingested, the toxin
(ciguatoxin), which is present at high levels in these contaminated fish, may affect the digestive, muscular, and/or neurological systems. More than 400 different species
of fish have been implicated as a cause of ciguatera fish poisoning, including many that are otherwise considered edible (i.e., sea bass, snapper, and perch). These fish
typically inhabit low-lying shore areas or coral reefs in tropical or subtropical areas. In the United States, ciguatera fish poisoning has occurred more frequently in the
last decade perhaps as a result of a general increase in fish consumption.
Cirrhosis, Primary Biliary : (PBC) is a chronic progressive liver disorder that primarily affects females and typically becomes apparent during middle age. Obstruction
of the small bile ducts is accompanied by yellow discoloration of the skin (jaundice). Excessive amounts of copper accumulate in the liver, and fibrous or granular
hardening (induration) of the soft liver tissue develops. The course of primary biliary cirrhosis is divided into four progressive stages. Although the exact cause of primary
biliary cirrhosis is unknown, possible immunological, autoimmune, genetic, and/or environmental factors are under investigation as potential causes of the disorder.
Citrullinemia 瓜胺酸血症: one of several hereditary urea cycle disorders. These disorders are caused by a deficiency of one of the enzymes needed for the
incorporation of ammonia into urea, which is normally excreted in the urine. The deficiencies cause an excess of ammonia in the blood and body tissues. In
citrullinemia the deficient enzyme is argininosuccinic acid synthetase. If left untreated, the disorder manifests itself by an elevated level of toxic ammonia in the blood
(hyperammonemia). This imbalance may lead to brain damage and eventually to coma.
Cleft lip 裂唇 and cleft palate 裂顎 : are common malformations that are noticeable at birth (congenital). A cleft is an incomplete closure of the palate or lip, or
both. This defect is caused when the pair of long bones that form the upper jaw (maxillae) do not fuse properly during the early development. The cleft may be barely
noticeable or result in severe deformities requiring surgical correction.
Cleidocranial dysplasia : a rare craniofacial disorder inherited as an autosomal dominant trait. Major symptoms may include premature closing of the soft spot on the
head (coronal), delayed closure of the space between the bones of the skull (fontanels) and complete or partial absence of the collarbones (clavicles). Delayed eruption
of teeth, moderately short stature, a high arched palate, a wide pelvic joint, failure of the lower jaw joints to unite, and fingers that are irregular in length may also be
present.
Clubfoot 畸形足 : a general term used to describe a group of deformities of the ankles and/or feet that are usually present at birth. The defect may be mild or severe
and may affect one or both of the ankles and/or feet. Different forms of clubfoot may include talipes equinovarus in which the foot is turned inward and downward;
calcaneal valgus in which the foot is angled at the heel with the toes pointing upward and outward; and metatarsus varus in which the front of the foot is turned inward. If
not corrected, affected individuals may develop an unusual manner of walking (gait). Clubfoot may be caused by a combination of hereditary and other factors (e.g.,
environment) and may occur as an isolated condition or due to a number of different underlying disorders.
Coats disease : the most severe form of a group of rare, hereditary syndromes of unknown origin or cause that are characterized by the enlargement or dilation of the
ends of the blood vessels in the retina. It almost always affects just one eye and is more common in boys than among girls. The disease may progress until the retina is
detached.
Cochin Jewish Disorder : a rare inherited disorder characterized by the development of red, scaly thickened patches of skin on the palms of the hands and soles of the
feet (palmoplantar hyperkeratosis), frequent pus-producing (pyogenic) skin infections, overgrowth (hypertrophy) of the fingernails and toenails (onychogryphosis), and
degeneration of the structures that surround and support the teeth (periodontosis). Periodontosis usually results in the premature loss of teeth. Affected individuals may
also have flat feet (pes planus) and abnormally long, slender fingers and toes (arachnodactyly). Most individuals with this disorder experience numbness and tingling
and lack normal blood flow to the fingers and/or toes (when exposed to cold temperatures) as well as loss of bone tissue at the ends of the fingers and/or toes
(acroosteolysis). Cochin Jewish Disorder is thought to be inherited as an autosomal recessive genetic trait. Some researchers believe that it may be a variant of
Papillon-Lefevre Syndrome.
Cockayne's syndrome 柯卡因氏症( 類早老症 ): a rare inherited disorder characterized by growth retardation, abnormal sensitivity to light
(photosensitivity), and a prematurely aged appearance. In the classical form of Cockayne Syndrome (Type I) the symptoms are progressive and typically become
apparent after the age of one year. An early onset or congenital form of Cockayne Syndrome (Type II) is apparent at birth (congenital). There may also be a third form,
known as Cockayne Syndrome Type III, which may be a late onset form of the disease.
Coffin-Lowry syndrome : a rare genetic disorder characterized by mental retardation; abnormalities of the head and facial (craniofacial) area; large, soft hands with
short, thin (tapered) fingers; short stature; and/or various skeletal abnormalities. Characteristic facial features may include an underdeveloped upper jaw bone (maxillary
hypoplasia), an abnormally prominent brow, downslanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large ears, and/or unusually thick
eyebrows. Skeletal abnormalities may include abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis) and unusual prominence of the breastbone
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 (sternum) (pectus carinatum). In most cases, additional abnormalities may be present. Coffin-Lowry Syndrome is thought to be inherited as an X-linked dominant genetic
trait; in most cases, certain females (heterozygotes) with Coffin-Lowry Syndrome may exhibit a less severe form of the disorder.
Coffin-Siris syndrome : An extremely rare genetic disorder, recognized only in 1970, Coffin-Siris Syndrome is present at birth and is characterized by mental retardation,
short stature, and malformations of the 5th finger. Infants with Coffin-Siris Syndrome have characteristic, coarse facial features, feeding problems, muscle weakness, and
frequent respiratory infections.
Cogan Reese Syndrome : an extremely rare eye disorder characterized by a matted or smudged appearance to the surface of the iris; the development of small
colored lumps on the iris (nodular iris nevi); the attachment of portions of the iris to the cornea (peripheral anterior synechiae); and/or increased pressure in the eye
(glaucoma). Secondary glaucoma may lead to vision loss. This disorder most frequently appears in young and middle-aged females, usually affecting only one eye
(unilateral) and developing slowly over time.
Cohen syndrome 柯恩症: an extremely rare genetic disorder characterized by malformations of the head and facial (craniofacial) area, eye (ocular) abnormalities,
diminished muscle tone (hypotonia), obesity, abnormally narrow hands and feet with long fingers and toes, and/or mental retardation. In infants and children with the
disorder, characteristic craniofacial malformations may include an unusually small head (microcephaly); abnormal shortness of the groove in the middle of the upper lip
(philtrum); a small jaw (micrognathia); an unusually narrow, highly-arched roof of the mouth (palate); prominent front teeth (incisors); a high nasal bridge; downslanting
eyelid folds (palpebral fissures); and/or malformed, protruding ears. Ocular abnormalities often associated with Cohen Syndrome may include diminished vision in bright
light (hemeralopia), decreased clarity of vision, narrowed visual fields, degeneration of the nerve-rich membrane lining the eyes (retinitis pigmentosa), and/or gradual
deterioration of the nerves of the eyes (optic atrophy). The degree of visual impairment depends upon the severity and/or combination of eye abnormalities present. In
infants and children with the disorder, many additional physical abnormalities may also be present. The range and severity of symptoms may vary from case to case. In
most cases, Cohen Syndrome is thought to be inherited as an autosomal recessive genetic trait ( 第八號染色體長臂 COH1 基因突變).
Colitis, collagenous 膠原蛋白異常結腸炎: a rare digestive disorder that primarily affects females and typically becomes apparent during middle age. The
disorder is characterized by chronic inflammation of the mucous membranes (mucosa) lining the colon (colitis); injury of the membrane's surface layer (surface
epithelium); and abnormal accumulation (excessive deposition) of the protein collagen beneath the surface layer of the mucous membranes (thickened subepithelial
collagenous bands). The colon is the major portion of the large intestine. The medical literature often refers to collagenous colitis as a form of "microscopic colitis," since
evidence of chronic inflammation and other abnormalities of the colon's mucous membranes may only be confirmed through microscopic examination of multiple tissue
samples. Individuals with collagenous colitis typically experience episodes of chronic, watery, nonbloody diarrhea that may often occur at night (nocturnal). In some
cases, diarrhea may be urgent and affected individuals may have an inability to control the passage of stool (fecal incontinence). Diarrheal episodes may be persistent or
may occur at intervals (intermittent) over a period of months or years. Other symptoms and findings that may occasionally be associated with such episodes include
abdominal pain, abdominal swelling (distension), nausea, vomiting, and/or weight loss. The exact cause of collagenous colitis is unknown. Possible immunological,
environmental, genetic, autoimmune, and/or other factors are under investigation as potential causes of the disorder.
Colitis, Ulcerative 潰瘍性結腸炎: an inflammatory bowel disease (IBD) of unknown cause. It is characterized by chronic inflammation and ulceration of the lining
of the major portion of the large intestine (colon). In most affected individuals, the lowest region of the large intestine, known as the rectum, is initially affected. As the
disease progresses, some or all of the colon may become involved. Although associated symptoms and findings usually become apparent during adolescence or young
adulthood, some individuals may experience an initial episode between age 50 to 70. In other cases, symptom onset may occur as early as the first year of life.
Ulcerative Colitis is usually a chronic disease with repeated episodes of symptoms and remission (relapsing-remitting). However, some affected individuals may have
few episodes, whereas others may have severe, continuous symptoms. During an episode, affected individuals may experience attacks of watery diarrhea that may
contain pus, blood, and/or mucus; abdominal pain; fever and chills; weight loss; and/or other symptoms and findings. In severe cases, individuals may be at risk for
certain serious complications. For example, severe inflammation and ulceration may result in thinning of the wall of the colon, causing tearing (perforation) of the colon
and potentially life-threatening complications. In addition, in some cases, individuals with the disorder may eventually develop more generalized (systemic) symptoms,
such as certain inflammatory skin or eye conditions; inflammation, pain, and swelling of certain joints (arthritis); chronic inflammation of the liver (chronic active hepatitis);
and/or other findings. The specific underlying cause of Ulcerative Colitis is unknown. However, genetic, immunologic, infectious, and/or psychologic factors are thought
to play some causative role.
Colorado tick fever : a rare viral disease transmitted by ticks that commonly inhabit the western United States. Major symptoms may include fever, headaches, muscle
aches, and/or generalized discomfort (myalgia). The symptoms usually last for about a week and resolve on their own.
Common variable immunodeficiency : CVI is a group of rare genetic (primary) immunodeficiency disorders in which abnormalities in immune cell development
(maturation) result in a decreased ability to appropriately produce antibodies in response to invading microorganisms, toxins, or other foreign substances. The symptoms
of CVI usually become apparent during the second to the fourth decade of life. The term "Common Variable Immunodeficiency" is used to designate an immune
defect in which there is a substantial reduction of the level of immunizing agents (immunoglobulins) in the fluid portion of the blood (serum). According to the medical
literature, most individuals with CVI share common, distinctive symptoms and physical findings (phenotype) due to decreased levels of all major classes of
immunoglobulins in blood serum (panhypogammaglobulinemia). Defective production of certain antibodies in response to invading microorganisms (antibody deficiency)
and recurrent bacterial infections are also characteristic of CVI. Such infections often affect the upper and lower respiratory tracts and the gastrointestinal (digestive)
system. In some cases, individuals with Common Variable Immunodeficiency have an increased tendency to develop certain diseases characterized by abnormal
tissue growths (neoplasms) that may be benign or malignant. In addition, some individuals with CVI may have an unusual susceptibility to certain autoimmune diseases.
These disorders occur when the body's natural defenses against invading microorganisms mistakenly attack healthy tissue. The range and severity of symptoms and
findings associated with CVI may vary from case to case. It is thought that Common Variable Immunodeficiency may result from a combination of genetic defects or
from different disease genes (heterogenous). In many cases, there is no clear pattern of inheritance. However, in successive generations of some affected families
(kindreds), there is evidence that CVI may be inherited as an autosomal recessive genetic trait. In addition, a rare acquired form of the disorder has been described in
the medical literature.
Condyloma 濕疣 : a wart caused by the human papilloma virus (HPV) and is usually transmitted by direct sexual contact. These warts can be found on the genitals,
mucous membranes of the mouth, near the anus, or in the rectum.
Cone dystrophy 視網膜變性: a rare disorder of the eye that is usually, but not invariably, inherited since the literature contains numerous case reports of this set of
symptoms appearing for no apparent reason. The cells that receive light stimuli (cone cells and rod cells) in the retina of the eye deteriorate causing impaired vision. This
disorder normally occurs during the first to third decades of life
Congenital Varicella Syndrome : an extremely rare disorder in which affected infants have distinctive abnormalities at birth (congenital) due to the mother's infection
with chickenpox (maternal varicella zoster) early during pregnancy (i.e., up to 20 weeks gestation). Affected newborns may have a low birth weight and characteristic
abnormalities of the skin; the arms, legs, hands, and/or feet (extremities); the brain; the eyes; and/or, in rare cases, other areas of the body. The range and severity of
associated symptoms and physical findings may vary greatly from case to case depending upon when maternal varicella zoster infection occurred during fetal
development. In many cases, newborns with Congenital Varicella Syndrome may be abnormally small and have a low birth weight due to abnormal growth delays
during fetal development (intrauterine growth retardation). In addition, distinctive skin abnormalities are often present. Certain areas of the skin may consist of thickened,
overgrown (hypertrophic) scar tissue (cicatrix), and surrounding skin may appear abnormally hardened (indurate), red, and inflamed (erythema). Such cicatrix scarring
typically occurs on one or more of the arms and/or legs, which may also be malformed, underdeveloped (hypoplastic), and abnormally shortened (reduction deformities).
Affected infants may also exhibit incomplete development (hypoplasia) of certain fingers and/or toes (rudimentary digits). In some cases, newborns with Congenital
Varicella Syndrome may have abnormalities of the brain such as degeneration of the outer portion of the brain (cortical atrophy) and/or abnormal enlargement of cavities
of the brain (dilated ventricles [ventriculomegaly]). There may also be abnormalities of the part of the nervous system that controls involuntary functions (autonomic
nervous system) such as damage to or abnormalities of certain nerve fibers (sympathetic nerve fibers) that pass from the spinal cord to the neck and/or pelvic area.
Some affected infants and children may also exhibit abnormal smallness of the head (microcephaly), delays in the acquisition of skills requiring the coordination of
mental and physical activities (psychomotor retardation), varying degrees of mental retardation, and/or learning disabilities. In some cases, characteristic eye (ocular)
abnormalities may also be present including loss of transparency of the lenses of the eyes (cataracts); abnormal smallness of one or both eyes (unilateral or bilateral
microphthalmia); involuntary, rapid, side-to-side movements of the eyes (pendular nystagmus); and/or inflammation and scarring of certain membranes of the eyes
(chorioretinitis and chorioretinal scarring). Such ocular abnormalities may result in varying degrees of visual impairment. In rare cases, newborns with Congenital

33
 Varicella Syndrome may have additional abnormalities associated with the disorder.
Conjunctivitis ligneous 結膜炎: a rare disorder that is characterized by recurrent lesions of the mucous membranes, especially in the eye. This disorder usually
presents itself during childhood and may also be found in the mucous membranes of the larynx, vocal chords, nose, trachea, bronchi, vagina, cervix, and gingiva. The
lesions in the mucous membranes have a wood-like (ligneous) consistency to them and are thick, firm, knotty and tough. The cause of this disorder is not known
although there have been multiple cases of siblings with this condition suggesting an autosomal recessive inheritance.
Conn's syndrome : characterized by an increased level of the hormone aldosterone in the blood causing increased sodium levels in the blood. An increase in blood
volume (hypervolemia), and a low potassium level (hypokalemic alkalosis) also occur. This disorder is characterized by periods of weakness, unusual sensations such
as tingling and warmness, a transient paralysis, and muscle cramps. An increase in blood pressure (hypertension), excessive urination (polyuria), and excessive thirst
(polydipsia) can also occur.
Conradi-Hunermann syndrome : a form of Chondrodysplasia Punctata. It is a rare inherited disease affecting infants and young children. This disorder is marked by
mild to moderate growth deficiencies and unusual facial characteristics. Large skin pores and sparse hair that tends to be coarse may also be symptomatic of this
condition. Conradi-Hunermann Syndrome is usually inherited as an autosomal recessive genetic trait. However, X-linked dominant and X-linked recessive forms of the
disease have been identified.
Conversion disorder 情感轉位異常: a mental illness characterized by the loss or alteration of physical functioning without any physiological reason. These
physical symptoms are the result of emotional conflicts or needs. The symptoms usually appear suddenly and at times of extreme psychological stress. A lack of concern
over the debilitating symptoms (la belle indifference) distinguishes this mental illness from other physiological disorders.
Cor triatriatum 兩房三腔心臟畸形 : an extremely rare heart defect that is present at birth (congenital). The normal human heart has four chambers. Two
chambers are called atria, which are separated from each other by a partition called the atrial septum. The other two chambers, known as ventricles, are also separated
by a septum. In cor triatriatum there is a small extra chamber above the left atrium of the heart. The pulmonary veins, returning blood from the lungs, drain into this extra
"third atrium." The passage of blood from the lungs into the heart (left atrium and ventricle) is slowed by this extra chamber. Features of congestive heart failure and
obstruction may eventually develop with cor triatriatum.
Corneal dystrophy 角膜變型 : are disorders affecting the outer clear layer of the eyeball known as the cornea. They are caused by faulty metabolism in the tissues
in and around the eye. Clarity of vision is usually impaired by clouding of the cornea.
Cornelia de Lange syndrome (CdLS)卡內里帝連症: is a rare genetic disorder that is apparent at birth (congenital). Associated symptoms and findings typically
include delays in physical development before and after birth (prenatal and postnatal growth retardation); characteristic abnormalities of the head and facial (craniofacial)
area, resulting in a distinctive facial appearance; malformations of the hands and arms (upper limbs); and mild to severe mental retardation. Many infants and children
with the disorder have an unusually small, short head (microbrachycephaly); an abnormally long vertical groove between the upper lip and nose (philtrum 朝天鼻); a
depressed nasal bridge; upturned nostrils (anteverted nares); and a protruding upper jaw (maxillary prognathism). Additional, characteristic facial abnormalities may
include thin, downturned lips; low-set ears; arched, well-defined eyebrows that grow together across the base of the nose (synophrys); an unusually low hairline on the
forehead and the back of the neck; and abnormally curly, long eyelashes. Affected individuals may also have distinctive malformations of the limbs, such as unusually
small hands and feet, inward deviation (clinodactyly 併趾) of the fifth fingers, or webbing (syndactyly) of certain toes. Less commonly, there may be absence of the
forearms, hands, and fingers. Infants with Cornelia de Lange syndrome may also have feeding and breathing difficulties; an increased susceptibility to respiratory
infections; a low-pitched "growling" cry; heart defects; delayed skeletal maturation; hearing loss; or other physical abnormalities. The range and severity of associated
symptoms and findings may be extremely variable from case to case. In most individuals with the disorder, Cornelia de Lange syndrome appears to occur randomly for
unknown reasons (sporadic). However, there have been some familial cases, suggesting autosomal dominant inheritance. According to investigators, the disorder may
be caused by changes (mutations) of a gene or genes on the long arm (q) of chromosome 3 (3q26.3).
Corticobasal degeneration : a rare progressive neurological disorder characterized by cell loss and shrinkage (atrophy) in certain areas of the brain (cerebral cortex
and substantia nigra). Corticobasal degeneration progresses gradually. Initial symptoms, which typically begin at or around age 60, may first appear on one side of the
body (unilateral), but eventually affect both sides as the disease progresses. Symptoms include signs of parkinsonism such as poor coordination, akinesia (an absence
of movements), rigidity (a resistance to imposed movement), and disequilibrium (impaired balance); and limb dystonia (abnormal muscle postures). Affected individuals
may have sufficient muscle power for manual tasks but often have difficulty directing their movements appropriately. Initial symptoms typically appear in people during
their sixties, and may include poor coordination, difficulty accomplishing goal-directed tasks (i.e., buttoning a shirt), and/or difficulty pantomiming actions. Symptoms
usually begin on one side of the body (unilateral), but both sides may be affected as the disease progresses. Other symptoms such as cognitive and visual-spatial
impairments, apraxia (loss of the ability to make familiar, purposeful movements), hesitant and halting speech, myoclonus, and dysphagia (difficulty swallowing) may also
occur. The patient is unable to walk. Symptoms vary among patients.
There is no treatment available to slow the course of corticobasal degeneration, and the symptoms of the disease are generally resistant to therapy. Antiparkinsonian
drugs do not produce any significant or sustained improvement. Clonazepam may help the myoclonus. Occupational, physical, and speech therapy may help in managing
disability.
Bradley, W, et al (eds) Neurology in Clinical Practice: Principles of Diagnosis and Management vol. II, Butterworth-Heinemann, Boston, p.1596 (1991)
Fahn, S. Parkinson's Disease and Other Basal Ganglion Disorders In Diseases of the Nervous System: Clinical Neurobiology, W.B. Saunders Co., Philadelphia, pp.
1144-1158 (1992)
Joynt, R (ed) Clinical Neurology vol. 3, J.B. Lippincott Co., Philadelphia, p. 84 (1992)
Kompoliti, K, et al. Clinical Presentation and Pharmacological Therapy in Corticobasal Degeneration Archives of Neurology, 55:7; 957-961 (July 1998)
Riley, D, and Lang, A. Cortical-Basal Ganglionic Degeneration In Current Neurology, vol. 12, Mosby-Year Book Inc., pp. 155-171 (1992)
Rinne, J, et al. Corticobasal Degeneration: A Clinical Study of 36 Cases Brain, 117 (Pt. 5); 1183-1196 (October 1994)
Costello Syndrome : an extremely rare disorder characterized by growth delay after birth (postnatal), leading to short stature; excessive, redundant loose skin on the
neck, palms of the hands, fingers, and soles of the feet; development of benign (non-cancerous) growths (papillomata) around the mouth (perioral) and nostrils (nares);
mental retardation; and/or characteristic facial appearance. Other physical features may include the development of dry hardened skin on the palms of the hands and
the soles of the feet (palmoplantar hyperkeratosis), abnormally deep creases on the palms and soles, and/or abnormally flexible joints of the fingers (hyperextensible).
There is an increased incidence of congenital abnormalities of the heart and thickening of the heart muscle called a cardiomyopathy. Characteristic craniofacial
features may include an abnormally large head (macrocephaly); low-set ears with large, thick lobes; unusually thick lips; and/or abnormally wide nostrils (nares). Most
cases of Costello Syndrome are isolated with no other affected family members (sporadic). The exact cause of Costello Syndrome is unknown.
Cowpox 天花 : a viral disease that normally affects the udders and teats of cows. On rare occasions, it may be transmitted to humans and produce a characteristic red
skin rash and abnormally enlarged lymph nodes (lymphadenopathy). Cowpox is caused by the vaccinia virus and has been known to cause systemic reactions
(generalized vaccinia) in some people who have been recently vaccinated against cowpox. Cowpox produces an immunity to a more serious infectious disease known
as smallpox. In the 19th century, the vaccinia virus was used in vaccination programs against smallpox. Because of the widespread vaccination, smallpox has been
wiped out worldwide.
Craniofrontonasal Dysplasia : a very rare inherited disorder characterized by abnormalities of the head and face (craniofacial area), hands and feet, and certain
skeletal bones. Major symptoms of this disorder may include widely spaced eyes (ocular hypertelorism), a groove (cleft) on the tip of the nose, an unusually wide
mouth, malformations of the fingers and toes, and/or underdevelopment of portions of the face (midface hypoplasia), such as the forehead, nose, and chin. In addition,
the head may appear unusually wide and short (brachycephaly). The exact mode of inheritance of Craniofrontonasal Dysplasia is unknown. Autosomal dominant and
X-linked forms of the disorder have been discussed in the medical literature.
Craniometaphyseal Dysplasia : an extremely rare genetic disorder characterized by distinctive abnormalities of the head and facial (craniofacial) area, impairment of
certain nerves (cranial nerves) that emerge from the brain, and malformations of the long bones of the arms and legs. In infants and children with Craniometaphyseal
Dysplasia, there may be overgrowth and/or abnormal hardening of certain bones of the skull (cranial hyperostosis and/or sclerosis) and overgrowth (hypertrophy) of
craniofacial bones, resulting in widely-spaced eyes (ocular hypetelorism), an abnormally wide nasal bridge, an enlarged lower jaw (mandible), and a "leonine" facial
appearance (leontiasis ossea). Compression of certain nerves emerging from the brain (cranial nerves) may result in loss of some motor function (paralysis) in the facial

34
 area (cranial nerve palsy) and hearing loss (conductive and/or sensorineural hearing impairment). In addition, in individuals with the disorder, the long bones of the arms
and legs may develop abnormally, resulting in unusual "club-like" flaring or broadening of the end portions (metaphyses) of the bones (metaphyseal dysplasia). In some
cases, Craniometaphyseal Dysplasia may be inherited as an autosomal dominant genetic trait; in other cases, the disorder may have an autosomal recessive mode of
inheritance.
Craniosynostosis, Primary 顱閉症: a rare disorder of the skull that may be inherited as an autosomal dominant or autosomal recessive genetic trait. Premature
closure of the bones (sutures) in the skull result in an abnormally shaped head.The condition may be familial; a result of a chromosomal or genetic abnormality; or it may
occur sporadically, with no other affected relatives. Some cases are associated with disorders such as microcephaly (abnormally small head) and hydrocephalus
(excessive accumulation of cerebrospinal fluid in the brain). The first sign is an abnormal head shape. Other symptoms, which include increased intracranial pressure,
developmental delay, and mental retardation, may be caused by constriction of the growing brain. Seizures and blindness may also occur.
Treatment for craniosynostosis generally consists of surgery (usually performed early in life) to relieve increased intracranial pressure, assure capacity of the skull to
accommodate brain growth, and improve the appearance of the head.
Rowland, L (ed). Merritt's Textbook of Neurology 10th edition, Lippincott Williams & Wilkins, Philadelphis, pp.490-492 (2000)
Creutzfeldt Jakob Disease : (CJD) a rare, degenerative, invariably fatal degenerative brain disorder (i.e., "spongiform" encephalopathy) characterized by sudden
development of rapidly progressive neurological and neuromuscular symptoms. Typically, onset of symptoms occurs at about age 60. There are three major categories
of CJD: sporadic CJD, hereditary CJD, and acquired CJD. With symptom onset, affected individuals may develop confusion, depression, behavioral changes, impaired
vision, and/or impaired coordination. As the disease progresses, there may be rapidly progressive deterioration of cognitive processes and memory (dementia), resulting
in confusion and disorientation, impairment of memory control, personality disintegration, agitation, restlessness, and other symptoms and findings. Affected individuals
also develop neuromuscular abnormalities such as muscle weakness and loss of muscle mass (wasting); irregular, rapid, shock-like muscle spasms (myoclonus); and/or
relatively slow, involuntary, continual writhing movements (athetosis), particularly of the arms and legs. Later stages of the disease may include further loss of physical
and intellectual functions, a state of unconsciousness (coma), and increased susceptibility to repeated infections of the respiratory tract (e.g., pneumonia). In many
affected individuals, life-threatening complications may develop less than a year after the disorder becomes apparent. In approximately 90 percent of cases, CJD
appears to occur randomly for no apparent reason (sporadically). About 10 percent of affected individuals may have a hereditary predisposition for the disorder. Reports
in the medical literature suggest that familial cases of CJD are consistent with an autosomal dominant mode of inheritance. In addition, in some extremely rare cases,
CJD may take an infectious form. The disorder is thought to result from changes (mutations) in the gene that regulates the production of the human prion protein or
direct contamination (transmission) with abnormal prion protein in infected brain tissue. A variant form of CJD (V-CJD) has been reported in several young people in the
United Kingdom. In 1996, experts suggested the possibility that V-CJD may be associated with consumption of beef from cows with a related infectious brain disorder
known as Bovine Spongiform Encephalopathy (BSE) or "Mad Cow Disease." Scientific research and debate are ongoing concerning a potential link between BSE and
V-CJD. In addition, coordinated national and international efforts are in place concerning the prevention, study, and surveillance of CJD. There is currently no single
diagnostic test for CJD. The first concern is to rule out treatable forms of dementia such as encephalitis or chronic meningitis. The only way to confirm a diagnosis of
CJD is by brain biopsy or autopsy. In a brain biopsy, a neurosurgeon removes a small piece of tissue from the patient's brain so that is can be examined by a neurologist.
Because a correct diagnosis of CJD does not help the patient, a brain biopsy is discouraged unless it is need to rule out a treatable disorder. While CJD can be
transmitted to other people, the risk of this happening is extremely small.
There is no treatment that can cure or control CJD. Current treatment is aimed at alleviating symptoms and making the patient as comfortable as possible. Opiate drugs
can help relieve pain, and the drugs clonazepam and sodium valproate may help relieve involuntary muscle jerks.
It is clear that the prion strain causing bovine spongiform encephalopathy (BSE) in cattle has infected human beings, manifesting itself as a novel human prion disease,
variant Creutzfeldt-Jakob disease (CjD). Studies of the incubation periods seen in previous epidemics of human prion disease and of the effect of transmission barriers
limiting spread of these diseases between species, suggest that the early variant CJD cases may have been exposed during the preclinical phase of the BSE epidemic. It
must therefore be considered that many cases may follow from later exposure in an epidemic that would be expected to evolve over decades. Since the number of people
currently incubating this disease is unknown, there are concerns that prions might be transmitted iatrogenically via blood transfusion, tissue donation, and, since prions
resist routine sterilisation, contamination of surgical instruments. Such risks remain unquantified. Although variant CJD can be diagnosed during life by tonsil biopsy, a
prion-specific blood test is needed to assess and manage this potential threat to public health. The theoretical possibility that BSE prions might have transferred to other
species and continue to present a risk to human health cannot be excluded at present.
Collinge, John. Variant Creutzfeldt-Jakob disease. Lancet 354 : 317-323, 1999
Alperovitch, A; Zerr, I; Pocchiari, M; Mitrova, E; de Pedro Cuesta, J; Hegyi, I; Collins, S; Kretzschmar, H; et. al., Codon 129 prion protein genotype and sporadic
Creutzfeldt-Jakob disease. Lancet 353: 1673-1674, 1999
Cri du Chat Syndrome : a rare chromosomal disorder that is apparent at birth, is characterized by a distinctive high, shrill, mewing, "kitten-like" cry during infancy. This
distinctive cry can become less pronounced during late infancy. Other findings and symptoms may include low birth weight and failure to grow at the expected rate
(failure to thrive); distinctive abnormalities of the head and face (craniofacial area) including an unusually small head (microcephaly), widely spaced eyes (ocular
hypertelorism), and an unusually small jaw (micrognathia); and mental retardation. Cri du Chat Syndrome is caused by the absence of genetic material (deletion) on the
short arm (p) of chromosome 5.
Crigler Najjar Syndrome Type I 第一型克里格勒-納傑氏黃疸症: a very rare inherited metabolic disorder characterized by the complete absence of
the enzyme uridine diphosphate glucuronosyltransferase (UDPGT), which is normally found in the liver. This enzyme is required for the conversion (conjugation) and
subsequent excretion of bilirubin from the body. When UDP-glucuronosyltransferase activity is absent, these metabolic processes are hampered and abnormally high
levels of bilirubin accumulate in the blood (hyperbilirubinemia). Within the first few days of life, most infants with Crigler-Najjar Syndrome Type I develop persistent
yellowing of the skin, mucous membranes, and whites of the eyes (jaundice). In addition, many affected individuals eventually develop kernicterus, a potentially
life-threatening neurological condition in which toxic levels of bilirubin accumulate in the brain, causing damage to the central nervous system. Early signs of kernicterus
may include lack of energy (lethargy), vomiting, fever, and/or unsatisfactory feedings. More serious signs of kernicterus may develop including abnormal muscle rigidity,
resulting in muscle spasms (dystonia) and involuntary movements of the limbs and/or entire body (athetosis). Crigler-Najjar Syndrome Type I is inherited as an
autosomal recessive genetic trait.
Crohn's Disease : an inflammatory bowel disease characterized by severe, chronic inflammation of the intestinal wall or any portion of the gastrointestinal tract. The lower
portion of the small intestine (ileum) and the rectum are most commonly affected by this disorder. Symptoms may include watery diarrhea and abdominal pain. The
symptoms of Crohn's Disease can be difficult to manage and diagnosis is often delayed. Recently infliximab ( Remicade, Centocor, USA ) an antibodies to tumour
e ,UK ) was in clinical trial.
-859, 2000
Lowry PW, Sandborn WJ, Lipsky JJ. Mycophenolate mofetil for Crohn’s disease? Lancet 354: 3-4, 1999
Cronkhite Canada Disease : (Allergic Granulomatous Angiitis) is an extremely rare disorder characterized by multiple benign growths in the mucous lining
of the intestines and stomach (generalized polyposis), loss of scalp hair (alopecia), widespread areas of dark spots on the skin (hyperpigmentation), and the loss of
fingernails (onycholytic dystrophy).
Crouzon Disease : a genetic disorder characterized by abnormalities in the skull, face, and brain caused by premature hardening of the skull. The skull is made up of
several bony plates initially joined by fibrous connective tissue, which normally fuse together and harden over a period of several years after growth of the brain. Facial
deformities are often present at birth and may progress with time. Vision disturbances and deafness can develop in some cases. With treatment, pressure inside the
skull may be relieved and major symptoms may improve.
Cryoglobulinemia, Essential Mixed : a rare autoimmune disorder that affects the blood and various other body systems. Major symptoms may include unusual
response to cold, skin abnormalities, weakness and blood problems. There may also be joint pain, inflamed blood vessels, and kidney problems.
Cryptococcosis : is caused by a fungus known as Filobasidiella Neoformans or Cryptococcosis Neoformans. The infection may be spread to humans through contact
with pigeon droppings or unwashed raw fruit. Contact with an infected individual may also spread the infection. Individuals with disorders characterized by lowered
immunity are at high risk for contracting these infections. Cryptococcosis may appear in various forms depending on how the infection is acquired. In most cases, the
infection begins in the lungs and may then spread to the brain, urinary tract, skin, and/or bones. In some forms of Cryptococcosis, symptoms may be limited to the lungs.
Respiratory symptoms may include coughing and chest pain. In some affected individuals, inflammation of the membranes surrounding the brain and spinal cord

35
 (meningitis) may occur as a serious complication. Symptoms associated with meningitis may include dizziness, blurred vision, severe headache, and/or stiffness of the
neck. In such cases, immediate treatment is essential to help prevent potentially life-threatening complications.
Cushing's syndrome/disease 腦下垂體嗜鹼性細胞增生引起 : also called hypercortisolism, is a rare endocrine disorder characterized by a variety of
symptoms and physical abnormalities. It may be caused by either prolonged exposure of the body's tissues to high levels of the hormone cortisol or by the
overproduction of cortisol in the body. Cortisol is a natural substance produced by the adrenal gland. It can also be produced synthetically. Common features of
Cushing's syndrome include upper body obesity, severe fatigue and muscle weakness, high blood pressure, backache, elevated blood sugar, easy bruising, and
bluish-red stretch marks on the skin. In women, there may be increased growth of facial and body hair, and menstrual periods may become irregular or stop completely.
Exposure to too much cortisol can occur for different reasons such as long-term use of glucocorticoid hormones to treat inflammatory illnesses; pituitary adenomas
(benign tumors of the pituitary glands) which secrete increased amounts of adrenocorticotropic hormone (ACTH); ectopic ACTH syndrome (a condition in which ACTH is
produced by various types of potentially malignant tumors that occur in different parts of the body); and adrenal tumors (tumors of the adrenal glands).
Treatment of Cushing's syndrome depends on the cause of the overproduction of cortisol. If the cause is long-term use of a medication being used to treat another
disorder, the physician may reduce the dosage until symptoms are under control. Surgery or radiotherapy may be used to treat pituitary adenomas. Surgery, radiotherapy,
chemotherapy, immunotherapy, or a combination of these may be used to treat ectopic ACTH syndrome. The aim of treatment is to cure the hypercortisolism and to
eliminate any tumor that threatens the individual's health, while minimizing the chance of endocrine deficiency or long-term dependence on medications.
Asbury, A, et al (eds) Diseases of the Nervous System: Clinical Neurobiology , vols. I & II, 2nd edition, W.B. Saunders Co., Philadelphia, pp. 191, 574-575 (vol. I), pp.
1526-1527 (vol. II) (1992)
Bradley, W, et al (eds) Neurology in Clinical Practice: Principles of Diagnosis and Management vols. I & II, 2nd edition, Butterworth- Heinemann, Boston, pp. 753-754,
758 (vol. I), p. 926 (vol. II) (1996)
Orth, D. Cushing's Syndrome New England Journal of Medicine, 332:12; 791-803 (March 23, 1995)
Rowland, L (ed) Merritt's Textbook of Neurology 9th edition, Williams & Wilkins, Baltimore, pp. 888-889, 898 (1995)
Newell-Price, John; Grossman, Ashley Diagnosis and management of Cushing's syndrome. Lancet 353: 2087-2088, 1999
Cutis laxa : a rare congenital or acquired connective tissue disorder characterized by skin that is loose (lax), hanging, wrinkled, and lacking in elasticity. The affected areas
of skin may be thickened and dark. Most cases of Cutis Laxa are inherited as an autosomal recessive genetic trait. Cutis Laxa may be present at birth (congenital) or
may be acquired.
Cutis Marmorata Telangiectatica Congenita : (CMTC) is a rare congenital skin disorder characterized by discolored patches of skin (livedo reticularis) caused
by dilated surface blood vessels (telangiectases) that give the skin a blue or purple marbling or "fishnet" appearance. This condition is often associated with crater-like
lesions (ulcers) of the skin. Other congenital abnormalities are found in at least 50 percent of affected individuals.
Cyclic vomiting syndrome : a rare digestive disorder that, for the most part, affects children. This disorder is characterized by chronic nausea, vomiting, extreme
fatigue, motion-sickness, abdominal pain and, in some cases, dizziness (vertigo) that may last for hours to days. These episodes of symptoms seem to be similar in
onset and duration for each affected individual. The exact cause of cyclic vomiting syndrome is not known.
Cystic fibrosis 纖維囊腫 : (CF) is an inherited disorder that affects several "outwardly secreting" (exocrine) glands, including respiratory, pancreatic, salivary, and
sweat glands. CF predominately affects Caucasians and is considered very rare in other populations. In individuals with CF, mucus-secreting glands within the lining of
the lung's airways (bronchi) produce unusually thick, sticky secretions, clogging the air passages, promoting bacterial growth, and leading to chronic obstruction,
inflammation, and infection of the airways. In addition, the pancreas is deficient in digestive enzymes required to break down food (pancreatic insufficiency), preventing
proper absorption of fats and other essential nutrients (malabsorption). Sweat gland secretions may contain elevated levels of salt (sodium) and chloride. There may also
be abnormalities of other exocrine glands, including those of the male or female reproductive systems. Associated symptoms may vary in range and severity among
affected individuals. The disorder may often be apparent shortly after birth. However, in other affected individuals, CF may not be detected for months, later during
childhood, or, more rarely, later in life. In some newborns with CF, associated symptoms may include vomiting, abdominal bloating (distension), and blockage of the
small intestine with meconium, the thick, dark material that forms a newborn's first stools. Affected infants often fail to grow and gain weight at the expected rate (failure
to thrive), may continue to have abdominal bloating, and may have abnormally large, loose, foul smelling stools that contain an excess of fat (steatorrhea) and other
nutrients due to malabsorption. During childhood or adolescence, associated characteristics may include a chronic cough that may occur in association with vomiting;
sleep disturbances; a high-pitched whistling sound with breathing (wheezing); breathlessness; chronic inflammation of the lung's airways (bronchitis); and recurrent lung
infections. With disease progression, increasingly severe lung damage, respiratory failure, and progressive inability of the heart to pump blood effectively (heart failure)
may lead to life-threatening complications. CF is inherited as an autosomal recessive trait. The disorder results from changes (mutations) of a gene known as the CF
transmembrane conductance regulator (CFTR) gene. Located on the long arm (q) of chromosome 7 (7q31.2), the CFTR gene is thought to regulate the production of a
protein that controls the transfer of chloride across cell membranes.
Cystic hygroma 水囊腫 : an inborn tumor of the lymphatic system that, in some rare cases, may be inherited as an autosomal recessive genetic trait. This
progressive disorder is characterized by a large sac filled with lymph fluid protruding from the skull at the nape of the neck. The hygroma is thought to be caused by a
failure of the lymph system to properly connect with the blood vessels in the neck and thus with the appropriate blood circulation system.
Cysticercosis 囊腫硬化 : a complication of severe tapeworm infection acquired by eating uncooked pork. The disorder is caused by larval pork tapeworms. The
scientific name for this parasite is Taenia solium. Cysticerci are immature tapeworms that normally live in the muscle (meat) of swine. When they develop instead in
human muscle and die, they can cause severe inflammatory reactions. Cysticercosis is a rare disorder in the United States, Western Europe, Japan and in non-pork
eating cultures.
Cystinosis 胱胺酸症: a rare inherited disorder characterized by the impaired transport of cystine out of parts of cells called lysosomes. Cystine is an amino acid found
in many different proteins in the body. Lysosomes, which are membrane bound particles within cells, aid in intracellular digestive function. Cystinosis is characterized by
the accumulation of cystine in tissues throughout the body, which can cause certain organs to malfunction. Three distinct forms of Cystinosis are recognized. Infantile
Nephropathic Cystinosis is the most severe form of the disease. Symptoms, including abnormal sensitivity to light and loss of color in the retina of the eyes, can appear
as early as 6 to 12 months of age. If left untreated, this form of the disease may lead to kidney failure by 10 years of age. In people with Intermediate Cystinosis or
Juvenile (Adolescent) Cystinosis, kidney and eye symptoms typically become apparent during the teenage years or early adulthood. In Benign or Adult Cystinosis,
crystalline cystine accumulates primarily in the cornea of the eyes. One of the major complications of Cystinosis is Renal Fanconi Syndrome which is characterized by
impaired kidney function including excessive urination (polyuria), excessive thirst (polydipsia), and abnormally low levels of potassium in the blood (hypokalemia).
Ref : W. A. Gahl, J. G. Thoene, and J. A. Schneider Medical Progress: Cystinosis. New Eng J Med. 347:111-121, 2002
Specific treatment with cysteamine, an aminothiol, results in long-term depletion of lysosomal cystine. Clinical trials have demonstrated that the institution of such therapy
early in life retards renal glomerular deterioration and improves linear growth. The mechanism of lysosomal cystine depletion involves entry of cysteamine into the
lysosomal compartment through a specific transporter, reaction with cystine to form the mixed disulfide cysteamine–cysteine, exit of that compound from the lysosomes
through an intact lysine transporter), and reduction to cysteamine and cysteine by glutathione in the cytoplasm. This process permits the cycling of cysteamine between
lysosomes and cytoplasm, with each cycle removing 1 mole of half-cystine per mole of cysteamine.

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Cystinuria 胱胺酸尿症: an inherited metabolic disorder characterized by the abnormal movement (transport) in the intestines and kidneys, of certain organic
chemical compounds (amino acids). These include cystine ( HOOC- CH(NH2)-CH2SSCH2-CH(NH2)-COOH ), lysine, arginine, and ornithine. Excessive amounts of
undissolved cystine in the urine (cystinuria) cause the formation of stones (calculi) in the kidney, bladder, and/or ureter. Four subtypes of Cystinuria are recognized
( infantile nephropathic cystinosis, Intermediate Cystinosis or Adolescent, Benign cystinosis or adult cystinosis ) . In Type I Cystinuria, there is a defect in the active
transport of cystine and the amino acids (dibasic) lysine, arginine, and ornithine in the kidneys and small intestine. People who are carriers of the gene for this type of the
disorder generally have no symptoms. The gene for cystinosis, CTNS, was mapped to chromosome 17p13 in 19951 and was isolated in 1998. In Type II Cystinuria,
cystine and lysine transport is severely impaired in the kidneys and only somewhat impaired in the intestines. In Type III Cystinuria, kidney transport of cystine and lysine
is defective; intestinal transport is normal. People who are carriers of the gene for this variety of the disease typically have slightly elevated levels of cystine and lysine in
the urine. In Hypercystinuria, there is generally a moderate elevation of cystine in the urine; intestinal absorption of cystine and the dibasic amino acids is normal.
Cysteamine ( convert the cystine to cysteine-cysteamine )approved in ’94 for nephropathic cystinosis children
Cytochrome C Oxidase Deficiency 細胞色素 C 氧化脢缺乏症 : a very rare inherited metabolic disorder characterized by deficiency of the enzyme
cytochrome C oxidase (COX), or Complex IV, an essential enzyme that is active in the subcellular structures that help to regulate energy production (mitochondria).
Deficiency of COX may be limited (localized) to the tissues of the skeletal muscles or may affect several tissues, such as the heart, kidney, liver, brain, and/or connective
tissue (fibroblasts); in other cases, the COX deficiency may be generalized (systemic). Four distinct forms of Cytochrome C Oxidase Deficiency have been identifed. The
first form of this disorder is known as COX Deficiency Type Benign Infantile Mitochondrial Myopathy. Affected infants exhibit many of the same symptoms as those with
the more severe infantile form of the disease; however, because the COX deficiency is limited (localized) to tissues of the skeletal muscles, they typically do not have
heart or kidney dysfunction. In the second type of the disease, known as COX Deficiency Type Infantile Mitochondrial Myopathy, because the COX deficiency affects
tissues of the skeletal muscles as well as several other tissues, the disorder may be characterized by a generalized weakness of skeletal muscles (myotonia),
abnormalities of the heart and kidneys, and/or abnormally high levels of lactic acid in the blood (lactic acidosis). The third form of COX Deficiency, known as Leigh's
Disease (Subacute Necrotizing Encephalomyelopathy), is thought to be a generalized (systemic) form of COX Deficiency. Leigh's Disease is characterized by
progressive degeneration of the brain and dysfunction of other organs of the body including the heart, kidneys, muscles, and liver. Symptoms may include loss of
previously acquired motor skills, loss of appetite, vomiting, irritability, and/or seizure activity. As Leigh's Disease progresses, symptoms may also include generalized
weakness; loss of muscle tone (hypotonia); and/or episodes of lactic acidosis. In the fourth form of COX Deficiency, known as COX Deficiency French-Canadian Type,
the COX deficiency affects tissues of the skeletal muscles, connective tissue, and, in particular, the brain (Leigh's Disease) and the liver. Affected infants and children
may demonstrate developmental delays, diminished muscle tone (hypotonia), crossing of the eyes (strabismus), Leigh's Disease, and/or episodes of lactic acidosis.
Many cases of COX Deficiency are inherited as an autosomal recessive genetic trait. However, it is possible that other cases may be inherited due to abnormal changes
in genetic material (mutation) found within mitochondria (mtDNA).
Cytomeglovirus 巨細胞病毒: (CMV) is a viral infection occuring at birth (congenitally), after birth (postnatally), or at any age. CMV ranges in severity from a silent
infection without consequences, to a disease manifested by fever, hepatitis, and (in newborns) severe brain damage, and possible life-threatening complications.

D
Dandy-Walker syndrome : a rare malformation of the brain involving the fourth ventricle and cerebellum that is present at birth (congenital). It is defined as an
enlargement of the fourth ventricle, an absence (partial or complete) of the cerebellar vermis (the narrow middle area between the two cerebral hemispheres), and cyst
formation in the posterior fossa (the internal base of the skull). An abnormally enlarged space at 4th ventricle that interferes with the normal flow of cerebrospinal fluid
through the openings between the ventricle and other parts of the brain (foramina of Magendia and Luschka). Excessive amounts of fluid accumulate around the brain
and cause abnormally high pressure within the skull, swelling of the head (congenital hydrocephalus), and neurological impairment. Motor delays and learning problems
may also occur. Dandy-Walker Malformation is a form of "Obstructive" or "Internal Noncommunicating Hydrocephalus," meaning that the normal flow of cerebrospinal
fluid is blocked resulting in the widening of the ventricles. Symptoms which often occur in early infancy include slow motor development and progressive macrocrania (an
abnormally enlarged skull). In older children symptoms of increased intracranial pressure such as irritability, vomiting and convulsions, and/or signs of cerebellar
dysfunction such as ataxia and nystagmus (jerky eyes) may occur. The syndrome can appear dramatically or be totally asymptomatic. Other symptoms include
increased head circumference, bulging occiput (the back of the head), cranial nerve dysfunction, and abnormal breathing patterns. Of importance is the high association
of Dandy-Walker syndrome with other central nervous system structural anomalies including agenesis of the corpus callosum and mal-formations of the face, limbs,
digits and heart.
Treatment generally consists of treating the associated anomalies, if needed. Also, a ventriculoperitoneal shunt may be inserted to control the hydrocephalus. Genetic
counselling may also be needed.
James, H. Hydrocephalus in Infancy and Childhood. American Family Physician, 45:2; 733-742 (February 1992).
Castroviejo, I, Velez, A, Pascual-Pascual, S, Roche, M, and Villarejo, F. Dandy-Walker Malformation: Analysis of 38 Cases. Child's Nervous System, 7:2; 88-97 (1991).
Bordarier, C, and Aicardi, J. Dandy-Walker Syndrome and Agenesis of the Cerebellar Vermis: Diagnostic Problems and Genetic Counselling. Developmental Medicine
and Child Neurology, 32; 285-294 (1990).
Russ, P, Pretorius, D, and Johnson, M. Dandy-Walker Syndrome: A Review of Fifteen Cases Evaluated by Prenatal Sonography. American Journal of Obstetrics and
Gynecology, 161:2; 401-406 (1989).
Darier's disease : a rare gradually progressive, hereditary skin disorder. It is characterized by elevated spots (papules) on the scalp, forehead, face, neck, area behind the
ears, and middle of the back. Darier Disease is inherited as an autosomal dominant genetic trait.
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De Barsy Syndrome : a rare disorder that is inherited as an autosomal recessive genetic trait. The main characteristics associated with this disorder are degeneration of
the elastic tissue in the skin (cutis laxa), involuntary movements of the arms and legs (athetosis), a cloudy cornea of the eye, large prominent ears, loss of muscle tone,
unusual flexibility of the small joints, a forehead that protrudes outward (frontal bossing) and/or short stature.
De Santis Cacchione Syndrome : an extremely rare disorder characterized by the skin and eye symptoms of Xeroderma Pigmentosum (XP) occurring in association
with neurological abnormalities, mental retardation, unusually short stature (dwarfism), and underdevelopment of the testes or ovaries (hypogonadism). Xeroderma
Pigmentosum is a group of rare inherited skin disorders characterized by a heightened reaction to ultraviolet light (photosensitivity), skin discolorations, and the possible
development of several types of eye disorders and skin cancers. The most common neurological abnormalities associated with De Sanctis- Cacchione Syndrome are
low intelligence, an abnormally small head (microcephaly), the loss of ability to coordinate voluntary movement (ataxia), and/or absent (areflexia) or weakened
(hyporeflexia) reflexes. De Sanctis-Cacchione Syndrome is inherited as an autosomal recessive genetic trait.
Degos' syndrome : a rare systemic disorder that affects small and medium sized arteries, causing them to become blocked (occlusive arteriopathy). Degos Disease
usually progresses through two stages. During the first stage, characteristic skin lesions appear that may last for a period of time ranging from weeks to years. The
second stage of Degos Disease is most frequently characterized by lesions in the small intestine, but other organs may also be affected. Major symptoms may include
abdominal pain, diarrhea, and/or weight loss. Intestinal lesions may break through the wall of the bowel (perforation), a potentially life-threatening complication.
Dejerine-Sottas disease : an inherited neurological disorder that progressively affects mobility. Peripheral nerves become enlarged or thickened leading to muscle
weakness. Progress of the disorder is irregular and often accompanied by pain, weakness, numbness, and a tingling, prickling or burning sensation in the legs. Many
people with Dejerine-Sottas Disease continue to lead active lives. Most neurologists now consider this disorder to be one of 5 types of Hereditary Motor Sensory
Neuropathy (HMSN) which simply means � genetically transmitted disorder of the nerves associated with movement� . Dejerine-Sottas Disease is one of several that
comprise Type III and in which the protective sheath around the long nerves breaks down (demyelination) for unknown reasons exposing and endangering the nerve.
The nerves are enlarged due to an accumulation of connective tissue that may present in the form of onion-bulbs
Dejerine-Klumpke Palsy :The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder, arm, and hand. Brachial plexus injuries are
caused by damage to those nerves. Symptoms may include a limp or paralyzed arm, lack of muscle control in the arm, hand, or wrist, and lack of feeling or sensation in
the arm or hand. Although injuries can occur at any time, many brachial plexus injuries happen during birth: the baby's shoulders may become impacted during the birth
process causing the brachial plexus nerves to stretch or tear. There are four types of brachial plexus injuries: avulsion, the most severe type, in which the nerve is torn
from the spine; rupture, in which the nerve is torn but not at the spinal attachment; neuroma, in which the nerve has tried to heal itself but scar tissue has grown around
the injury, putting pressure on the injured nerve and preventing the nerve from conducting signals to the muscles; and neuropraxia or stretch, in which the nerve has
been damaged but not torn. Neuropraxia is the most common type of brachial plexus injury.
Some brachial plexus injuries may heal on their own. Many children improve or recover by 3 to 4 months of age. Treatment for brachial plexus injuries includes physical
therapy and, in some cases, surgery.
Bradley, W, et al (eds) Neurology in Clinical Practice: The Neurological Disorders vol. II, 2nd edition, Butterworth-Heinemann, Boston, p. 2064 (1996)
Brucker, J, et al. Brachial Plexus Birth Injury Journal of Neuroscience Nursing, 23; 374-380 (1991)
Dyck, P, et al (eds) Peripheral Neuropathy vol. II, 3rd edition, W.B. Saunders Co., Philadelphia, pp. 927-928 (1993)
Laurent, J, et al. Neurosurgical Correction of Upper Brachial Plexus Birth Injuries Journal of Neurosurgery, 79; 197-203 (August 1993)
Magalini, S, et al (eds) Dictionary of Medical Syndromes 4th edition, J.B. Lippincott Co., Philadelphia, pp. 214, 262 (1997)
Piatt, J. Neurosurgical Management of Birth Injuries of the Brachial Plexus Neurosurgery Clinics of North America, 2:1; 175-185 (January 1991)
Dengue fever 登革熱 : an acute viral infection characterized by fever. It is caused by a bite from mosquitoes carrying dengue virus. The primary form of Dengue
Fever is characterized by a skin rash and a high fever with severe pain in the head and muscles. Other symptoms may include shaking chills, diarrhea, and vomiting.
Bouts of extreme exhaustion may last for months after the initial symptoms. The secondary forms of this disorder are called Dengue Hemorrhagic Fever and Dengue
Shock Syndrome. These usually are caused by a secondary infection with a different type of Dengue virus (Type 2), but may also be caused by the same virus that
causes Dengue Fever. Several days after onset other symptoms may include fever, bleeding under the skin, red spots on the legs, and bleeding into the intestines. A
marked fall in blood pressure (shock) occurs in very severe cases.
Dentin Dysplasia, Coronal : a genetic disorder characterized by brownish-blue opalescent baby teeth and permanent teeth that appear normal. The hard calcified
tissue beneath the enamel (dentin) is the main substance of the teeth. The baby teeth in children affected by this disorder contain obliterated pulp chambers and
reduced root canals. Permanent teeth also have abnormalities.
Dentin Dysplasia, Radicular : a genetic disorder characterized by atypical formation of the calcified tissue between the enamel pulp of the teeth (dentin). The teeth
lack pulp chambers or have half-moon shaped pulp chambers in short or abnormal shaped roots. The color of the teeth is usually normal.
Dentinogenesis Imperfecta Type III : a genetic dental disorder characterized by rapid erosion of crowns of the baby and permanent teeth soon after they erupt. The
inside of the teeth (dental pulp), which is filled with blood vessels and nerve endings, is usually exposed. Other genetic traits may accompany these tooth abnormalities.
Depersonalization disorder : a psychiatric disorder affecting emotions and behavior. It is characterized by an alteration in how an affected individual perceives or
experiences his or her unique sense of self. The usual sense of one's own reality is temporarily lost or changed. A feeling of detachment from, or being an outside
observer of, one's mental processes or body occurs such as the sensation of being in a dream.
Dercum Disease : a rare disorder characterized by pressure of fatty deposits on nerves, resulting in weakness and pain. This disorder usually occurs in obese females
between the ages of 45 and 60. Various areas of the body may swell for no apparent reason. The swelling may disappear without treatment, leaving hardened tissue or
pendulous skin folds. In some cases, affected individuals may also experience depression, lethargy, and/or confusion. Dercum Disease is thought to be inherited as an
autosomal dominant genetic trait.
Dermatitis, Atopic 異位性皮膚炎 : a common chronic inherited form of eczema. Eczema is a skin condition characterized by redness, swelling (edema), oozing,
crusting, scaling, burning pain, and itching (pruritus). Scratching or rubbing eczema may lead to thickening and marking of the skin (lichenification). The causes of
eczema fall into two classifications: 1) constitutional eczema (atopic dermatitis), and 2) external eczema which is caused by allergies, irritations, or chemical reactions
such as in contact dermatitis.
Dermatitis, Contact 接觸性皮膚炎: an acute or chronic skin inflammation triggered by substances that come in contact with the skin. Affected individuals may
have abnormal redness of the skin (erythema) and/or itching (pruritis). Symptoms and physical findings associated with contact dermatitis vary greatly depending upon
the cause of the disorder. Causes of contact dermatitis include an allergic reaction or response to a substance or a direct toxic effect of a substance (e.g., chemical
irritants, medications, certain plants).
Dermatomyositis 皮肌炎 : a progressive connective tissue disorder characterized by inflammatory and degenerative changes of the muscles and of the skin. In many
cases, a skin rash may precede the development of muscle abnormalities by more than one year. In some cases, the severity of muscle and skin abnormalities may
coincide; in other cases, they have no relationship. The symptoms and physical findings of Dermatomyositis vary widely from case to case. Muscle abnormalities may
begin with aches and weakness of the muscles of the upper arms and legs (proximal muscles). Muscles may be stiff, sore, and tender and, eventually, show signs of
degeneration (atrophy). Affected individuals may experience difficulty in performing certain functions such as raising their arms and/or climbing stairs. In addition,
affected individuals may experience speech and swallowing difficulties. Skin abnormalities associated with Dermatomyositis typically include a reddish-purple rash on
the upper eyelids (Heliotrope rash); reddish-purple, horn-like growths on the surface of the knuckles, elbows, and/or knees (Gottron's sign); and/or a red rash (erythema)
affecting the skin of the face, neck, and/or upper torso. The symptoms of Childhood Dermatomyositis are similar to those associated with the adult form of the disorder.
However, onset is usually more sudden. In addition, abnormal accumulations of calcium deposits (calcifications) in muscle and skin tissues, as well as involvement of the
digestive (gastrointestinal) tract are more common in the childhood form of Dermatomyositis. Although the exact cause of Dermatomyositis is not known, it is thought
to be an autoimmune disorder.
Dermatomyositis is one of the idiopathic inflammatory myopathies with characteristic cutaneous manifestations including the heliotrope rash, Gottron’s papules, cuticular
changes including periungual telangiectasia, a photodistributed erythema or poikiloderma, and a scaly alopecia. Dermatomyositis has been linked to cancer, particularly
ovarian cancer. Cancer-associated disease is more commonly found in older patients, and when present, is associated with a poor prognosis. A childhood form of the
disease exists and is frequently complicated by the development of calcinosis. Dermatomyositis is a systemic disorder and whereas the skin and muscles are the most

38
 commonly affected organs, patients may have arthralgias, arthritis, oesophageal disease, or cardiopulmonary dysfunction. Recently described serological abnormalities,
known as myositis-specific antibodies, add credence to the notion that this disorder is distinct from all other collagen-vascular diseases, and may lead to important
discoveries about the pathogenesis of the inflammatory myopathies, which are not currently of practical use in the clinic or office. Management of the patient with
myositis usually includes systemic corticosteroids with or without an immunosuppressive agent. Cutaneous disease is more difficult to manage, but antimalarials,
methotrexate, and intravenous immunoglobulin are effective in small, often open-label, studies.
Callen, JP. Dermatomyositis. Lancet 355: 53-57, 2000
Dementia with Lewy bodies : a neurodegenerative disorder associated with abnormal structures (Lewy bodies) found in certain areas of the brain. Because these
structures and many of the symptoms of dementia with Lewy bodies are associated with Parkinson's and Alzheimer's diseases, researchers do not yet understand
whether dementia with Lewy bodies is a distinct clinical entity or perhaps a variant of Alzheimer?s or Parkinson's disease. Symptoms can range from traditional
parkinsonian effects, such as loss of spontaneous movement (bradykinesia), rigidity (muscles feel stiff and resist movement), tremor, and shuffling gait, to effects similar
to those of Alzheimer's disease, such as acute confusion, loss of memory, and loss of, or fluctuating, cognition. Visual hallucinations may be one of the first symptoms
noted, and patients may suffer from other psychiatric disturbances such as delusions and depression. Onset of the disorder usually occurs in older adults, although
younger people can be affected as well.
There is no specific course of therapy for dementia with Lewy bodies. Treatment is symptomatic, often involving the use of medication to control the parkinsonian and
psychiatric symptoms. However, patients should be aware that antiparkinsonian medication that may help to reduce tremor and loss of muscle movement may actually
worsen such symptoms as hallucinations and delusions. Similarly, neuroleptic drugs prescribed for psychiatric symptoms may in fact markedly worsen the movement
symptoms.
Dermatomyositis : one of a group of acquired muscle diseases called inflammatory myopathies. The disease, which has a subacute (somewhat short and relatively
severe) onset, affects both children and adults. Females are more often affected than males. Dermatomyositis is characterized by a rash accompanying, or more often,
preceding muscle weakness. The rash is described as patchy, bluish-purple discolorations on the face, neck, shoulders, upper chest, elbows, knees, knuckles, and back.
Some patients may also develop hardened bumps of calcium deposits under the skin. The most common symptom is muscle weakness, usually affecting those muscles
that are closest to the trunk of the body (proximal). Eventually, patients have difficulty rising from a sitting position, climbing stairs, lifting objects, or reaching overhead. In
some cases, distal muscles (those not close to the trunk of the body) may be affected later in the course of the disease. Trouble with swallowing (dysphagia) may occur.
Occasionally, the muscles ache and are tender to touch. Patients may also feel fatigue and discomfort and have weight loss or a low-grade fever.
Treatment for dermatomyositis generally consists of a steroid drug called prednisone. For patients in whom prednisone is not effective, other immunosuppressants such
as azathioprine and methotrexate may be prescribed. Recently, a drug called intravenous immunoglobulin was shown to be effective and safe in the treatment of the
disease. Physical therapy is usually recommended to preserve muscle function and avoid muscle atrophy.
Devic Disease : a rare nerve disorder characterized by loss (demyelination) of the fatty sheath surrounding the optic nerve and nerves in the spinal cord. This disorder can
begin at any age after puberty. An initial phase consisting of a slight fever, sore throat and/or head cold often occurs. Loss of clear vision is accompanied by mild
paralysis (usually of the lower limbs) and loss of bladder and bowel control. Devic Disease can occur spontaneously, or in conjunction with Multiple Sclerosis or Systemic
Lupus Erythematosus.
Dextrocardia with Situs Inversus : a rare heart condition characterized by abnormal positioning of the heart. In this condition, the tip of the heart (apex) is positioned
on the right side of the chest. Additionally, the position of the heart chambers as well as the visceral organs such as the liver and spleen is reversed (situs inversus).
However, most affected individuals can live a normal life without associated symptoms or disability.
Diabetes Insipidus 尿崩症: a rare metabolic disease that is not related to diabetes mellitus. It is characterized by a deficiency of the hormone vasopressin
(anti-diuretic hormone [ADH]), which is produced in the posterior lobe of the pituitary gland. The lack of effect of this hormone on the kidney causes excretion of
excessive quantities of very dilute (but otherwise normal) urine. Excessive thirst and urination are the major symptoms of this disorder.
Diabetes, Insulin Dependant (IDDM ) : a disorder in which the body does not produce enough insulin and is, therefore, unable to convert nutrients into the energy
necessary for daily activity. The disorder affects females and males in equal numbers. Although the exact causes of Insulin-Dependent Diabetes are not known, genetic
and environmental (i.e., viral) factors seem to play a role.
Diabetic neuropathy : a nerve disorder caused by diabetes, is characterized by a loss or reduction of sensation in the feet, and in some cases the hands, and pain and
weakness in the feet. The symptoms of diabetic neuropathy, which vary among patients, are often slight at first. In fact, some mild cases may go unnoticed for a long
time. The first sign of the disease is usually numbness, pain, or tingling in the hands, feet, or legs. Occasionally, diabetic neuropathy can flare up suddenly, causing
weakness, burning sensations in the extremities, and weight loss. Nerve damage caused by diabetes generally occurs over a period of years and may lead to problems
with internal organs including the digestive tract, heart, and sexual organs. These problems can then tend to cause indigestion, diarrhea or constipation, dizziness,
bladder infections, and impotence. The loss of sensation in the feet is important as it may increase the possibility of injuries of which the patient is not aware. These foot
injuries can develop into ulcers or lesions that can become infected. In some cases, ulcers may not heal and amputation may be required.
The goal of treatment for diabetic neuropathy is to relieve discomfort and prevent further tissue damage. The first step is to bring blood sugar levels under control by diet
and medication. Thiazolidinediones, which are being developed for the treatment of insulin resistance and type 2 diabetes mellitus, bind and activate peroxisome
proliferator- controls adipocyte differentation,
lipid storage, and insulin sensitisation. Besides metabolic activities, thiazolidinediones have effects as diverse as the control of host defence, cell proliferation, and
tumorigenesis. Another important part of treatment involves taking special care of the feet. Analgesics, low doses of antidepressants, and some anticonvulsant
medications may be prescribed for relief of pain, burning, or tingling. Some patients may find that walking regularly, taking warm baths, or using elastic stockings may help
relieve leg pain.
Diastrophic Dysplasia 變動型侏儒: which is also known as disastrophic dwarfism, is a rare disorder that is present at birth (congenital). The range and severity of
associated symptoms and physical findings may vary greatly from case to case. However, the disorder is often characterized by short stature and unusually short arms
and legs (short-limbed dwarfism); abnormal development of bones (skeletal dysplasia) and joints (joint dysplasia) in many areas of the body; progressive abnormal
curvature of the spine (scoliosis and/or kyphosis); abnormal tissue changes of the outer, visible portions of the ears (pinnae); and/or, in some cases, malformations of the
head and facial (craniofacial) area. In most infants with diastrophic dysplasia, the first bone within the body of each hand (first metacarpals) may be unusually small and
"oval shaped," causing the thumbs to deviate away (abduction) from the body ("hitchhiker thumbs"). Other fingers may also be abnormally short (brachydactyly) and
joints between certain bones of the fingers (proximal interphalangeal joints) may become fused (symphalangism), causing limited flexion and restricted movement of the
finger joints. Affected infants also typically have severe foot deformities (talipes or "clubfeet") due to abnormal deviation and fusion of certain bones within the body of
each foot (metatarsals). In addition, many children with the disorder experience limited extension, partial (subluxation) or complete dislocation, and/or permanent flexion
and immobilization (contractures) of certain joints. In most infants with diastrophic dysplasia, there is also incomplete closure of bones of the spinal column (spina bifida
occulta) within the neck area and the upper portion of the back (lower cervical and upper thoracic vertebrae). In addition, during the first year of life, some affected
children may begin to develop progressive abnormal sideways curvature of the spine (scoliosis). During adolescence, individuals with the disorder may also develop
abnormal front-to-back curvature of the spine (kyphosis), particularly affecting vertebrae within the neck area (cervical vertebrae). In severe cases, progressive kyphosis
may lead to difficulties breathing (respiratory distress). Some individuals may also be prone to experiencing partial dislocation (subluxation) of joints between the central
areas (bodies) of cervical vertebrae, potentially resulting in spinal cord injury. Such injury may cause muscle weakness (paresis) or paralysis and/or life-threatening
complications. In addition, most newborns with diastrophic dysplasia have or develop abnormal fluid-filled sacs (cysts) within the outer, visible portions of the ears
(pinnae). Within the first weeks of life, the pinnae become swollen and inflamed and unusually firm, thick, and abnormal in shape. Over time, the abnormal areas of
tissue (lesions) may accumulate deposits of calcium salts (calcification) and eventually develop into bone (ossification). Some affected infants may also have
abnormalities of the head and facial (craniofacial) area including incomplete closure of the roof of the mouth (cleft palate) and/or abnormal smallness of the jaws
(micrognathia). In addition, in some affected infants, abnormalities of supportive connective tissue (cartilage) within the windpipe (trachea), voice box (larynx), and
certain air passages in the lungs (bronchi) may result in collapse of these airways, causing life-threatening complications such as respiratory obstruction and difficulties
breathing. In some individuals with the disorder, additional symptoms and physical findings may also be present. Diastrophic dysplasia is inherited as an autosomal
recessive trait.
Diencephalic Syndrome : a very rare neurological disorder. It is normally seen in infancy or early childhood. However, some cases have been reported in older children
and even adults. Diencephalic Syndrome is characterized by failure to thrive, abnormal thinness (emaciation), amnesia, intense sleepiness, unusual eye position, and

39
 sometimes blindness. he disorder does not affect the linear growth of the child. However, growth hormone levels are usually elevated.
DiGeorge Syndrome : a very rare group of congenital abnormalities that are the result of defects during early fetal development. These defects occur in areas known as
the 3rd and 4th pharyngeal pouches which later develop into the thymus and parathyroid glands. Developmental abnormalities may also occur in the 4th branchial arch.
Normally the thymus gland is located below the thyroid gland in the neck and front of the chest and is the primary gland of the lymphatic system which is necessary for
the normal functioning of the immune system. The parathyroid glands, located on the sides of the thyroid gland, are responsible for the maintenance of normal levels of
calcium in the blood. The thymus and parathyroid glands are missing or underdeveloped in children with DiGeorge Syndrome. The symptoms of this disorder vary
greatly depending on the extent of the missing thymus and parathyroid tissue. The primary problem caused by DiGeorge Syndrome is repeated infections due to a
diminished immune system.
Dilatation of the Pulmonary Artery, Idiopathic : (IDPA) is a rare congenital defect characterized by a wider than normal main pulmonary artery in the absence
of any apparent anatomical or physiological cause.
Diverticulits 憩室炎: a common digestive disorder and a frequent complication of diverticulosis. Diverticulosis is a condition characterized by the presense of small
sac-like protrusions or outpouchings of mucosal layer of tissue through the muscular wall of the large intestine (colon). These protrusions are known as diverticula and
may occur in any part of the colon, but most often in a lower part (sigmoid colon). The inflammation of one or more of these sacs is called diverticulitis. Symptoms may
include abdominal pain, tenderness, fever, digestive problems, and/or bleeding from part of the large intestine (rectum).
Diverticulosis : is characterized by small sac-like protrusions (hernias) of inner intestinal tissue through the muscular wall of the large intestine (colon). These protrusions
are called diverticula and may occur in any part of the colon, but most frequently are found in the lowest part (sigmoid).
DOOR Syndrome : an extremely rare inherited disorder characterized by hearing impairment, malformations of the nails and certain bones, mental retardation, other
abnormalities. "DOOR," an acronym for the characteristic abnormalities associated with the disorder, stands for (D)eafness due to malformation of the inner ears
(sensorineural hearing loss); (O)nychodystrophy, malformation of the nails; (O)steodystrophy, malformation of certain bones; and mild to severe mental (R)etardation. In
some cases, affected infants may also experience episodes of electrical disturbances in the brain (grand mal seizures [epilepsy]). Distinctive nail abnormalities
associated with the disorder may include underdeveloped, misshapen, or absent fingernails and/or toenails, while characteristic bone malformations may consist of an
extra small bone in the thumbs and/or great toes (triphalangy) and/or underdevelopment (hypoplasia) of bones in other fingers and/or toes. DOOR Syndrome is inherited
as an autosomal recessive genetic trait.
Down Syndrome 唐式症 : 體內細胞第 21 號染色體全部或部分為三倍染色體之異常，是唯一不會造成死亡之三倍染色體(trisomy). In some affected
individuals, only a percentage of cells may contain the chromosomal abnormality (mosaicism). In individuals with Down Syndrome, symptoms and findings may vary
greatly in range and severity, depending on the specific length and location of the duplicated (trisomic) portion of chromosome 21 as well as the percentage of cells
containing the abnormality. However, in many affected individuals, such abnormalities may include low muscle tone (hypotonia); a tendency to keep the mouth open with
protrusion of the tongue; and distinctive malformations of the head and facial (craniofacial) area, such as a short, small head (microbrachycephaly), upwardly slanting
eyelid folds (palpebral fissures), a depressed nasal bridge, a small nose, and a relatively flat facial profile. Individuals with Down Syndrome may also have unusually
small, misshapen (dysplastic) ears; a narrow, highly arched roof of the mouth (palate); vertical skin folds covering the inner corners of the eyes (epicanthal folds); dental
abnormalities; and a short, broad neck. Abnormalities of the extremities are also often present, such as unusually short arms and legs; short fingers, particularly the fifth
(i.e., "pinkies"), which tend to bend inward (clinodactyly); and unusual skin ridge patterns (dermatoglyphics) on the fingers, palms, and toes. Affected individuals may
also have short stature, poor coordination, mild to severe mental retardation, and hearing impairment. In some cases, Down Syndrome may also be characterized by
structural malformations of the heart at birth (congenital heart defects). In addition, those with the disorder may have an increased susceptibility to respiratory disease
(e.g., pneumonia), other infectious diseases, and malignancies in which there is an increased proliferation of certain white blood cells (leukemia). Such abnormalities
may lead to potentially life-threatening complications in some cases.
Dracunculosis : an infection caused by a parasitic worm known as Dracunculus medinensis, the guinea worm. Infected water fleas release the larvae of the worm into
drinking water. Ingestion of contaminated water causes the larvae to migrate from the intestines via the abdominal cavity to the tissue under the skin. The larvae mature
and release a toxic substance that makes the overlying skin ulcerate. After treatment, symptoms disappear and the worms can be safely removed from the skin.
Drash Syndrome : a very rare disorder that typically appears for no apparent reason (sporadically). In rare cases, it may be inherited as an autosomal dominant genetic
trait. This disorder usually appears early in life. In its complete form, it is characterized by the combination of abnormal kidney function, genital abnormalities
(pseudohermaphroditism), and a cancerous tumor of the kidney called a Wilms' tumor. Some affected individuals may have the incomplete form of Drash Syndrome,
which consists of abnormal kidney function with either genital abnormalities (pseudohermaphroditism) or Wilms' tumor. This disorder predominantly affects males but a
few female cases have been reported.
Duane Syndrome : an eye movement disorder present at birth (congenital) characterized by a limited ability to move the eye inward toward the nose (adduction), outward
toward the ear (abduction), or in both directions. In addition, when the affected eye(s) moves inward toward the nose, the eyeball retracts (pulls in) and the eye opening
(palpebral fissure) narrows. In some cases, when the eye attempts to look inward, it moves upward (upshoot) or downward (downshoot). Duane syndrome falls under
the larger heading of strabismus (misalignment of the eyes) under the subclassification of incomitant strabismus (misalignment of the eyes that varies with gaze
directions) and subheading of extraocular fibrosis syndromes (conditions associated with fibrosis of the muscles that move the eyes). Although the "muscle fibrosis"
association suggests that syndromes under this heading are primary disorders of muscle, evidence suggests that DS (and other syndromes under this heading) may be
primary disorders of nerve "innervation" (the distribution or supply of nerves). Duane syndrome has been subdivided clinically into three types: Type 1, Type 2, and Type
3.
Dubin Johnson Syndrome : a rare genetic liver disorder that tends to affect people of Middle Eastern Jewish heritage disproportionately to other groups. It appears to
be associated with clotting factor VII in this population. Symptoms may include a yellowish color to the skin (jaundice), and a liver that is sometimes enlarged and tender.
Dubowitz Syndrome : a very rare developmental disorder characterized by growth retardation, short stature, and unusual facial and physical characteristics. Symptoms
may develop while the fetus is still in the uterus (intrauterine) or immediately after birth (neonatal). Physical characteristics associated with Dubowitz Syndrome include a
high nasal bridge, underdevelopment of the bony ridges above the eyes (supraorbital ridges), widely spaced eyes (ocular hypertelorism), and/or droopy eyelids (ptosis).
Affected children typically have patchy areas of itchy red skin (eczema) on their face, knees, and elbows. Dubowitz Syndrome is inherited as an autosomal recessive
genetic trait.
Duhring Disease : also known as Dermatitis Herpetiformis, is a rare chronic skin disorder characterized by the presence of groups of severely itchy (pruritic)
blisters and raised skin lesions (papules). The exact cause of this disease is not known although it is frequently associated with the inability to digest gluten
(gluten-sensitive enteropathy).
Duodenal Atresia or Stenosis 十二指腸閉鎖或狹窄: are rare congenital digestive disorders that usually occur for no apparent reason (sporadically).
However, a few cases of Duodenal Atresia have been inherited as an autosomal recessive genetic trait. Absence or complete closure (atresia) of a portion of the channel
(lumen) within the first part of the small intestine (duodenum), or partial obstruction due to narrowing (stenosis) of the duodenum is present. Other associated
abnormalities may be found in over half of those affected with Duodenal Atresia or Duodenal Stenosis.
Dupuytren's Contracture : a rare connective tissue disorder characterized by fixation of the joints (e.g., proximal interphalangeal joints and metacarpophalangeal joints)
of certain fingers in a permanently flexed position (joint contractures). Due to abnormal thickening and shortening of the bands of fibrous tissue beneath the skin of the
palm (palmar fascia), a hardened nodule may develop, eventually forming an abnormal band of hardened (fibrotic) tissue. As a result, the fingers of the affected area
begin to be "drawn in" toward the palm over several months or years and cannot be pulled back (contracture). In addition, the skin of the affected area may "pucker." In
most cases, the ring and pinky (fourth and fifth) fingers are most affected. In addition, the disorder usually affects both hands (bilateral). Although the exact cause of
Dupuytren's Contracture is unknown, the disorder is thought to be inherited as an autosomal dominant genetic trait in some cases. In addition, there appears to be an
increased incidence of the disease in individuals with alcoholic liver disease (cirrhosis).
Dyggve Melchior Clausen Syndrome : a rare autosomal recessive disorder. Major symptoms may include short stature, mental retardation, bulging of the chest
sternum, flattening of the vertebrae and upper border of the pelvis (iliac crest), shortening of the bones in the middle portion of the hand (metacarpals) and changes in
the long bones. Patients with the Smith-McCort Dwarfism form of this disorder do not have mental retardation.
Dysautonomia, Familial 家族性自主神經機能障礙: a rare genetic disorder of the autonomic nervous system (ANS) that primarily affects people of Eastern
40
 European Jewish heritage. Most physicians view dysautonomia in terms of failure of the sympathetic or parasympathetic components of the ANS, but dysautonomia
involving excessive ANS activities also can occur. Dysautonomia can be local, as in reflex sympathetic dystrophy, or generalized, as in pure autonomic failure. It can be
acute and reversible, as in Guillain-Barre syndrome, or chronic and progressive, as in Shy-Drager syndrome. Several common conditions such as diabetes and
alcoholism can include dysautonomia. Dysautonomia also can occur as a primary condition or in association with degenerative neurological diseases such as
Parkinson's disease. Other diseases with generalized, primary dysautonomia include multiple system atrophy and familial dysautonomia. Hallmarks of generalized
dysautonomia due to sympathetic failure are impotence (in men) and a fall in blood pressure during standing (orthostatic hypotension). Excessive sympathetic activity
can present as hypertension or a rapid pulse rate. It is characterized by diminished sensitivity to pain, lack of overflow tearing in the eyes, a decrease in the number of
knob-like projections that cover the tongue (fungiform papillae), unusual fluctuations of body temperature, and unstable blood pressure. Symptoms of this disorder are
apparent at birth. The autonomic nervous system controls vital involuntary body functions.
There is no cure for dysautonomia. Secondary forms may improve with treatment of the underlying disease. In many cases treatment of primary dysautonomia is
symptomatic and supportive. Measures to combat orthostatic hypotension include elevation of the head of the bed, frequent small meals, a high-salt diet, and drugs such
as fludrocortisone, midodrine, and ephedrine.
Goldstein, D Stress, Catecholamines, and Cardiovascular Disease Oxford University Press, New York (1995)
Low, P (ed). Clinical Autonomic Disorders. Evaluation and Management. Little, Brown and Co., Boston (1993).
Robertson, D, Low, P, and Polinsky, R (eds). Primer of the Autonomic Nervous System Academic Press, New York (1996)
Dyschondrosteosis 小肢型軟骨發育不良: a rare disorder that is inherited through an autosomal dominant trait. Father-to-son (male-to-male) transmission
has been observed in multiple cases. The major features of this disorder are a deformity of the wrist called Madelung Deformity and abnormally short forearms and lower
legs (mesomelic short stature).
Dyskeratosis Congenita 先天角化不良 : a rare disorder in which three groups of symptoms occur: darkening and/or unusual absence of skin color
(hyper/hypopigmentation); progressive nail dystrophy; and slowly changing characteristics of mucous membranes (leukoplakia) in the anus, urethra, lips, mouth and/or
eye. Other symptoms found in some patients with this syndrome may be reduction in red and white blood cells and platelets (pancytopenia), overgrowth of skin on the
palms of the hands and soles of the feet, excessive sweating of the palms and soles, sparse or absent hair, fragile bones, underdeveloped testes, and dental
abnormalities. Dyskeratosis Congenita is more prevalent among males then females and an X-linked recessive inheritance is the most common form although cases of
autosomal recessive and autosomal dominant inheritance have been recorded. This disorder has also occurred sporadically (no known cause) in a significant number of
cases.
McGrath, John A, Dyskeratosis congenita: new clinical and molecular insights into ribosome function. Lancet 353:1204-1205, 1999
Dyslexia 讀字不能: Dyslexia is a brain-based type of learning disability that specifically impairs a person's ability to read. A condition in which an individual with normal
vision is unable to interpret written language, and therefore is unable to read or may read slowly with great difficulty. Onset is during childhood and males are affected
most often. Although the disorder varies from person to person, common characteristics among people with dyslexia are difficulty with phonological processing (the
manipulation of sounds) and/or rapid visual-verbal responding.
The main focus of treatment should be on the specific learning problems of affected individuals. The usual course is to modify teaching methods and the educational
environment to meet the specific needs of the individual with dyslexia.
Kujala, T, et al. Basic auditory dysfunction in dyslexia as demonstrated by brain activity measurements Psychophysiology, 37:2; 262-266 (March 2000)
Lambe, E.K. Dyslexia, gender, and brain imaging Neuropsychologia, 37:5; 521-536 (February 1, 1999)
Rennie, J. Defining Dyslexia Scientific American, 31-32 (July 1992)
Rosenberger, PB. Dyslexia: Is it a Disease The New England Journal of Medicine, 326:3; 192-193 (January 16, 1992)
Rumsey, JM. The Biology of Developmental Dyslexia The Journal of the American Medical Association, 268:7; 912-915 , (1992)
School of Clinical Speech and Language Studies, The University of Dublin, Trinity College, IRL-Dublin, Ireland Dyslexia: oral and written language disorder. A new look
at old links Folia Phoniatrica et Logopedica, 52:1-3; 7-13 (January-June 2000)
Dysphonia 發音障礙, Chronic Spasmodic : a rare voice disorder characterized by stuttering, momentary periods of uncontrolled vocal spasms, tightness in the
throat, and/or recurrent hoarseness. At certain times, affected individuals must make a conscious effort to speak. The most frequent sign of this disorder is a sudden,
momentary lapse or interruption of the voice. Chronic spasmodic dysphonia is a form of dystonia, a group of neuromuscular disorders characterized by involuntary
muscle spasms. There are two types of Chronic spasmodic dysphonia: Abductor spasmodic dysphonia and the more common adductor spasmodic dysphonia. In the
abductor type, the vocal cords draw apart (abduction); in the adductor type, the vocal cords draw together (adduction) and may become locked. The exact cause of
chronic spasmodic dysphonia is not known.
Dysplasia, Epiphysealis Hemimelica : a disorder that affects bone joints. It is characterized by overgrowth of the cartilage on the end (epiphysis) of one or more of
the long bones (carpal or tarsal bones) in the hand or foot. Less often, the cartilage on other bones such as those in the ankle, knee or hip joint can be affected. Usually
only one limb is involved. The limbs may be unequal in length.
Dysplasia, Fibrous : a disease of the medullary bone in which benign cysts occur as a result of irregular bone development. Fibrous dysplasia is characterized by
uneven growth, brittleness, and deformity of the affected bones. This disorder may involve a single bone (monostotic fibrous dysplasia or Jaffe-Lichtenstein disease) or
affect multiple bones (polyostotic fibrous dysplasia). Fibrous dysplasia first appears during childhood and the bone lesions usually stop developing at puberty. These lesions
may be painful, deforming and widespread. The bones most often affected are the ribs, skull, facial bones, thigh bone (femur), shin bone (tibia), upper arm (humerous), and
pelvis. Occasionally, the bones in the spine (vertebrae) are affected. Some affected individuals may experience bone fractures. The exact cause of fibrous dysplasia is not
known.
Dysplastic Nevus Syndrome : a malignant genetic skin disorder characterized by mole-like tumors. These tumors may appear in different sizes, shapes, and shades
of color (usually reddish-brown to pink). The tumors have a variable ability for spreading to adjacent parts of the skin, or through the blood and lymph circulation to other
organs. Dysplastic Nevus Syndrome may later evolve into Malignant Melanoma, a common form of skin cancer.
Dysthymia 沮喪 a common psychological disorder characterized by a chronic but mild depressive state that has been present in an individual for more than two years.
When the depressive state has lasted for several years, it may be difficult to distinguish between a person's usual functioning and the mood disturbance. Dysthymia is a
chronic mood disturbance that is classified as a form of neurosis. It must be distinguished from major depression disorders.
Dystonia 過動症 : a group of complex movement disorders that vary in their symptoms, causes, progression, and treatments. This group of neurological conditions is
generally characterized by involuntary muscle contractions that force a certain part(s) of the body into abnormal, sometimes painful, movements and positions (postures).
Dystonia is not a single disease, but rather a diverse group of conditions with a variety of symptoms. There are many different causes for dystonia. Genetic as well as
non-genetic factors contribute to all forms of dystonia. The most characteristic finding associated with dystonia is twisting, repetitive movements that affect a certain
part(s) of the body such as the neck, or an arm or leg, or the face.
Dystonia Overview
Dystonia is not a new disease. For example, the 15th century Flemish painter, Pieter Brueghel portrayed persons afflicted with one form of dystonia, blepharospasm
(eyelid spasms). There is no known cause of dystonia, nor is there a definitive testfor it. Although dystonia has no cure, there are successful treatments which greatly
reduce the symptoms and restore patients to many daily living activities. Treatments include drug therapy, botulinum toxin injections and several types of surgery.In
primary dystonia, there is no alteration of consciousness, sensation or intellectual function.
Classification
There are a number of ways of classifying the different types of dystonia. The two most common classifications are: Primary or idiopathic (no known organic lesion)
vs secondary (generally arises from some insult to the basal ganglia of the central nervous system such as: trauma, toxins, drugs, neoplasm, infarction, other organic
causes) Classification based on the body region involved (see following)
Generalized Dystonia or Idiopathic Torsion Dystonia
Onset age: typically children (especially in early teen years)
Symptoms: abnormal foot inversion, awkward gait, contractions of many different muscle groups; may involve one or more limbs of the proximal or distal muscle groups
Common misdiagnoses: clubfoot, scoliosis, stress, psychogenic disorder
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 Focal Dystonias
The focal dystonias affect a specific part of the body, but patients may suffer from more than one at a time. Focal dystonias are commonly present in the fifth decade
of life. They include the following variants:
1. Spasmodic Torticollis (or cervical dystonia)
Symptoms: affects muscles in the head, neck, and spine causing the head to assume unnatural postures, to turn ncontrollably-and
often resulting in considerable pain.
Common misdiagnoses: stiff neck, arthritis, stress, pyschogenic disorder.
2. Blepharospasm
Symptoms: causes involuntary muscle contraction of the eyelids, holding them closed for increasing periods of time. Muscles in
the face can also become affected causing facial distortions and grimacing. Severe blepharospasm sufferers can be
functionally blind even though their vision is perfectly normal.
Common misdiagnoses: dry eye syndrome, tics, stress, psychogenic disorder
3. Oromandibular Dystonia
Symptoms: jaw muscles, lips, and tongue are affected, causing the jaw to be held open or clamped shut. This makes eating,
swallowing, or speaking very difficult.
Common misdiagnoses: temporomandibular joint syndrome, stress, psychogenic disorder.
4. Orofacial-Buccal Dystonia (aka Meige's or Brueghel's Syndrome)
This is a combination of blepharospasm and oromandibular dystonia
5. Spasmodic Dysphonia (or SD)
Symptoms: affects muscles that control the vocal cords resulting in speech that wavers, is halting, or is reduced to a breathless
whisper.
Common misdiagnoses: laryngitis, vocal abuse, sore throat, stress, psychogenic disorder.
6. Writer's Cramp (or occupational dystonia)
Symptoms: triggered when the sufferer attempts to write or perform other fine hand functions, such as playing a musical
instrument. The hand and finger muscles contract or extend, halting the action, or requiring an exaggerated posture
to continue.
Common misdiagnoses: carpel tunnel syndrome, tennis elbow, strain, stress, psychogenic disorder.
No one treatment has been found universally effective. Instead, physicians use a variety of therapies (medications, surgery and other treatments such as physical
therapy, splinting, stress management, and biofeedback), aimed at reducing or eliminating muscle spasms and pain. Since response to drugs varies among patients
and even in the same person over time, the most effective therapy is often individualized.
Chen R., Hallett M. Focal dystonia and repetitive motion disorders. - Clinical Orthopedics, 351):102-6, June 1998, pp. 102-106.
Muller U., Steinberger D., Nemeth AH. Clinical and molecular genetics of primary dystonias. - Neurogenetics, 1998 Mar;1(3):165-177.
Dystrophy 營養不良, Asphyxiating Thoracic : a very rare genetic disorder affecting the development of the bone structure of the chest area. Major findings
include failure of the rib cage to develop correctly, kidney problems, and shortened bones of the arms and legs.
Dystrophy, Myotonic : an inherited disorder involving the muscles, vision, and endocrine glands. It can cause mental deficiency and loss of hair. Onset of this rare
disorder commonly occurs during young adulthood. However, it can occur at any age and is extremely variable in degree of severity.

E
Eales Disease : a rare disorder of sight that appears as an inflammation and white haze around the outercoat of the veins in the retina. The disorder is most prevalent
among young males and normally affects both eyes. Usually, vision is suddenly blurred because the clear jelly that fills the eyeball behind the lens of the eye seeps out
(vitreous hemorrhaging).
Ear, Patella, Short Stature Syndrome 耳髕短少: an extremely rare inherited disorder characterized by underdevelopment or absence of the outer structures of
both ears (pinna) including the external ear canal (microtia), absence of the knee caps (patellae), and/or short stature. Other findings may include various skeletal
abnormalities, early feeding difficulties, and/or poor weight gain. In addition, characteristic craniofacial features may be present including a small mouth (microstomia)
with full lips, an abnormally small head (microcephaly), and/or underdevelopment (hypoplasia) of the upper (maxillary) and/or lower (mandibular) jaw bones. Ear, Patella,
Short Stature Syndrome is thought to be inherited as an autosomal recessive genetic trait.
Eaton Lambert Syndrome : a neuromuscular disorder that may be an autoimmune disease. Major symptoms include muscle weakness and fatigue especially of the
pelvic and thigh muscles. Other symptoms may include dryness of the mouth, impotence, pain in the thighs, and a pricking, tingling or creeping sensation on the skin
(paresthesias) around the affected areas.
Ectodermal Dysplasias 外胚層發育異常: a group of hereditary, non-progressive syndromes in which the affected tissue derives primarily from the ectodermal
germ layer. The skin, its derivatives, and some other organs are involved. A predisposition to respiratory infections, due to a somewhat depressed immune system and to
defective mucous glands in parts of the respiratory tract, is the most life threatening characteristic of this group of disorders.
Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate : a rare form of ectodermal dysplasia inherited as an autosomal dominant genetic trait the symptoms of
which can vary from mild to severe. The most common symptoms found in patients with EEC Syndrome are: missing or irregular fingers and/or toes (ectrodactyly),
abnormalities of the hair and glands, cleft lip and/or palate, or unusual facial features, as well as abnormalities of the eyes and urinary tract.
Edema, Idiopathic : a common disorder that occurs almost exclusively in women. It is characterized by salt retention in the absence of heart, kidney, or liver disease. The
swelling (edema) may be episodic or persistent. Swelling of the face, hands, and feet develops rapidly, frequently accompanied by headache, irritability, and depression.
Weight gain also occurs.
Ehlers Danlos Syndrome : (EDS) is a group of hereditary connective tissue disorders characterized by defects of the major structural protein in the body (collagen).
Collagen, a tough, fibrous protein, plays an essential role in � holding together,�
strengthening, and providing elasticity to bodily cells and tissues. Due to defects of
collagen, primary EDS symptoms and findings include abnormally flexible, loose joints (articular hypermobility) that may easily become dislocated; unusually loose, thin,
�stretchy� (elastic) skin; and excessive fragility of the skin, blood vessels, and other bodily tissues and membranes. The different types of EDS were originally
categorized in a classification system that used Roman numerals (e.g., EDS I to EDS XI), based upon each form� s associated symptoms and findings (clinical evidence)
and underlying cause. A revised, simplified classification system (revised nosology) has since been described in the medical literature that categorizes EDS into six
major subtypes, based upon clinical evidence, underlying biochemical defects, and mode of inheritance. Each subtype of EDS is a distinct hereditary disorder that may
affect individuals within certain families (kindreds). In other words, parents with one subtype of EDS will not have children with another EDS subtype. Depending upon
the specific subtype present, Ehlers-Danlos syndrome is usually transmitted as an autosomal dominant or autosomal recessive trait.
Eisenmenger Syndrome : characterized by a large opening in the wall of the heart which separates the heart chambers (ventricular septal defect). The flow of blood
between the heart and lungs meets with resistance (pulmonary vascular resistance, PVR). This resistance increases as the child matures, resulting in high lung
(pulmonary) artery pressure. Blood that has lost its oxygen during circulation through the body needs to pass through the lungs to take up oxygen again. The high
pulmonary artery pressure in patients with Eisenmenger Syndrome causes increasing difficulty breathing (dyspnea), insufficient levels of oxygen in the blood, and
swelling (edema) of lung tissue. Some patients can do well until age 40 or 50 when their condition may begin to deteriorate.
Elephantiasis 象皮病 : a rare disorder of the lymphatic system. Inflammation of the lymphatic vessels causes extreme enlargement of the affected area, most
commonly a limb or parts of the head and torso. It occurs most commonly in tropical regions and particularly in parts of Africa.
Ellis Van Creveld Syndrome 亞力斯克利貝症: 軟骨外環層發育畸形 a rare genetic disorder characterized by short limb dwarfism 短肢侏儒, additional
fingers and/or toes (polydactyly 多趾), abnormal development of fingernails and, in over half of the cases, congenital heart defects. This disorder is inherited through an
autosomal recessive trait.導致 EVC 症之基因位於第四號染色體之短臂上
42
Emphysema, Congenital Lobar 氣腫 : a respiratory disorder of varying degrees of severity which allows air to enter the lungs but not to escape. It is sometimes
apparent at birth or shortly after birth. In others it doesn't become apparent until adulthood or may not cause any breathing difficulties at all. It may be so severe as to
cause associated heart problems or be so mild as to never become apparent. Congenital Lobar Emphysema may be caused by hereditary transmission or occur for no
apparent reason.
Empty Sella Syndrome : The primary from of empty sella syndrome is a rare inherited disorder of the brain that is transmitted as an autosomal dominant trait. The
disorder is characterized by an empty space filled with cerebrospinal fluid in the sella turcica area of the brain. The area fills with fluid as a result of a defect in the sella
diaphragm. Symptoms and findings may include unusual facial features, a highly-arched palate, moderate short stature, increased bone density (osteosclerosis), and
normal pituitary function. The secondary form of this disorder is caused by another underlying disorder or defect (e.g., surgery, radiation therapy, etc.). In the idiopathic
form of the disease, the exact cause in not known. This form of the disorder affects mostly obese, middle-aged women.
Encephalitis & Meninges 腦炎與腦膜炎: an inflammation of the brain. There are many types of encephalitis, most of which are caused by viral infection.
Symptoms include sudden fever, headache, vomiting, photophobia (abnormal visual sensitivity to light), stiff neck and back, confusion, drowsiness, clumsiness, unsteady
gait, and irritability. Symptoms that require emergency treatment include loss of consciousness, poor responsiveness, seizures, muscle weakness, sudden severe
dementia, memory loss, withdrawal from social interaction, and impaired judgement. Meningitis is an infection of the membranes (called meninges) that surround the
brain and spinal cord. Symptoms, which may appear suddenly, often include high fever, severe and persistent headache, stiff neck, nausea, and vomiting. Changes in
behavior such as confusion, sleepiness, and difficulty waking up are extremely important symptoms and may require emergency treatment. In infants symptoms of
meningitis may include irritability or tiredness, poor feeding and fever. Meningitis may be caused by many different viruses and bacteria. Viral meningitis cases are
usually self-limited to 10 days or less. Some types of meningitis can be deadly if not treated promptly. Anyone experiencing symptoms of meningitis or encephalitis
should see a doctor immediately.
Antiviral medications may be prescribed for herpes encephalitis or other severe viral infections. Antibiotics may be prescribed for bacterial infections. Anticonvulsants are
used to prevent or treat seizures. Corticosteroids are used to reduce brain swelling and inflammation. Sedatives may be needed for irritability or restlessness.
Over-the-counter medications may be used for fever and headache. Individuals with bacterial meningitis are usually hospitalized and treated with antibiotics. Antiviral
drugs may also be prescribed.
Pruitt, AA. Infections of the Nervous System Neurology Clinics 16(2); 419-447 (1998).
Townsend, GC, and Scheld, WM. Infections of the Central Nervous System Advances in Internal Medicine 43; 403-447 (1998).
Durand, M, et al. Acute Bacterial Meningitis in Adults. The New England Journal of Medicine, 328:1; 21-28 (January 7, 1993).
Quagliarello, V, and Scheld, W. Bacterial Meningitis: Pathogenesis, Pathophysiology, and Progress. The New England Journal of Medicine, 327:12; 864-872
(September 17, 1992).
Whitley, R. Viral Encephalitis The New England Journal of Medicine, 323:4; 241-250 (July 26, 1990)
Encephalitis, Herpetic 肝性腦炎 : Encephalitis is a central nervous system infection. Herpetic Encephalitis is caused by a virus known as Herpes Simplex Virus.
Primary symptoms include headache, drowsiness, hyperactivity and/or general weakness. This disorder may have some similar symptoms to Meningitis such as a stiff
neck, altered reflexes, confusion, possible paralysis and/or speech disorders. Skin lesions usually are not found.
Encephalitis, Japanese 日本腦炎 : a severe inflammation of the brain caused by the Japanese B Encephalitis Virus that is transmitted by the bite of infected
mosquitoes in certain areas of the world, particularly Asia. This disorder most commonly affects children and tends to be more actively spread during the summer.
Symptoms include high fever, headaches, weakness, nausea, vomiting, paralysis, personality changes, and coma, possibly leading to neurological damage or death.
Encephalitis, Rasmussen's : a rare central nervous system disorder characterized by chronic inflammation of the brain (encephalitis) and episodes of uncontrolled
electrical disturbances in the brain that cause convulsive seizures (epilepsy). Progressive symptoms including paralysis of one side of the body (hemiparesis) and
mental retardation may also occur. Although the exact cause of this disorder is not known, it is thought to result from an unidentified viral infection.
Encephalocele 腦膨出 : a rare disorder in which an infant is born with a gap in the skull; that is, a part of one or more of the plates that form the skull does not seal.
The membranes that cover the brain (meninges), and brain tissue, protrude through this gap. It is likely thatthis disorder is caused by the failure of the neural tube to
close during development of the fetus.
Encephalomyelitiss 腦脊髓炎, Myalgic : is thought to be an infectious disorder affecting the central, peripheral and autonomic nervous systems and the muscles.
Major symptoms may include general exhaustion, headache, muscle pain, weakness, and possible mental changes. The exact cause of this disorder is not known, but
researchers believe a virus associated with an immune system abnormality may be responsible. Adults are most commonly affected, with more cases seen in females
than in males. Epidemics of Myalgic Encephalomyelitis have occurred worldwide, but cases tend to appear sporadically. Symptoms can resolve in a few weeks but may
recur at any time. Other cases may persist for many years.
Endocardial Fibroelastosis (EFE) : is a rare heart disorder that affects infants and children. It is characterized by a thickening within the muscular lining of the heart
chambers due to an increase in the amount of supporting connective tissue (inelastic collagen) and elastic fibers. The normal heart has four chambers. Two chambers,
known as atria, are separated from each other by a partition called the atrial septum. The other two chambers, known as ventricles, are also separated by a septum.
Valves connect the atria (left and right) to their respective ventricles. The symptoms of Endocardial Fibroelastosis are related to the overgrowth of fibrous tissues causing
abnormal enlargement of the heart (cardiac hypertrophy), especially the left ventricle. Impaired heart and lung function eventually lead to congestive heart failure.
Endocardial Fibroelastosis may occur for no apparent reason (sporadic) or may be inherited as an X-linked (EFE2) or autosomal recessive (EFE1) genetic trait.
Endocarditis, Infective 感染性心內膜炎 : a bacterial infection of the inner lining of the heart muscle (endocardium). This inner lining also covers the heart
valves, and it is these valves which are primarily affected by infective endocarditis. If the infection remains untreated, multiplying bacteria may eventually destroy the
valves and result in heart failure. Bacteria may also form small clots (emboli) which move through the blood and block small arteries. These clots may lodge in various
parts of the body including the brain and cause serious damage. There are several forms of infective endocarditis. Two types that have similar symptoms but are caused
by different bacteria are acute bacterial endocarditis and subacute bacterial endocarditis. Acute bacterial endocarditis may affect normal heart valves, while subacute
bacterial endocarditis more commonly affects heart valves which have been previously damaged by disease. A third type of infective endocarditis, prosthetic valvular
endocarditis (PVE), may develop in patients who have previously had artificial (prosthetic) valve replacement or tissue valve replacement.
Endometriosis 子宮內膜異味: a prevalent gynecological condition that affects women. It is characterized by an inability to shed the build-up of tissue that
normally forms in the uterus (endometrium) before menstruation. As a result the built-up tissue escapes from the uterus and spreads to other parts of the pelvic area,
sometimes spreading as far as the lungs. Major symptoms may include lower back pain, pain in the thighs or excessive pain during the menstrual cycle, repeated
miscarriages, and infertility. Bleeding from the rectum or bladder may also occur.
Endomyocardial Fibrosis : a heart disease of unknown origin in which the most characteristic feature is a gross fibrosis of the lining of the heart cavities (the
endocardium) of one or both ventricles. Fibrosis progresses towards constriction of the ventricular cavities and involvement of the chordae tendinae and atrioventricular
valves. Loeffler's disease is a disease of the heart and small arteries, of unknown origin, characterized by eosinophilia, gross fibrosis of the endocardium, small vessel
arteritis and infiltration of other organs. Endomyocardial Fibrosis is thought to be a late stage of Loeffler's disease by some authorities.
Engelmann Disease : a rare genetic disorder characterized by progressive widening and malformation of the shafts of the long bones (diaphyseal dysplasia). Major
symptoms may include bone pain, particularly in the legs; skeletal abnormalities; and/or weakness and underdevelopment (hypoplasia) of various muscles. Pain and
weakness of the leg muscles may result in an unusual "waddling" walk (gait). Skeletal malformations may include abnormal side-to-side or inward curvature of the spine
(scoliosis or lumbar lordosis) and/or hardening (sclerosis) of the bones near the base of the skull and, in rare cases, the jaw. Engelmann Disease is inherited as an
autosomal dominant genetic trait.
Enterobiasis 蟯蟲病 : or pinworm infection is the most common type of parasitic infection found in children. The infection is contracted by swallowing or inhaling the
tiny eggs of the pinworm. Enterobiasis rarely causes any physical problems, except for the main symptom, severe rectal itching.
Eosinophilia Myalgia : is associated with the ingestion of large amounts of contaminated L-tryptophan, a dietary supplement often sold in health food stores. The
contaminant remains unknown. It is a disease of abrupt onset causing severe, disabling, chronic muscle pain, skin symptoms and other neurotoxic reactions . Diagnosis
is not easy and depends on finding unusually high levels of eosinophils (circulating white blood cells) over a period of at least six months.

43
Eosinophilic Fasciitis 嗜酸性菌感染肌膜炎: a disorder of unknown cause characterized by symmetric and painful inflammation and loss of elasticity in the
tissues of the arms and legs. The disorder has recently been recognized as a variant of Scleroderma, a disease in which connective tissue in the body shrinks and
hardens. Eosinophilic Fasciitis most commonly affects middle- aged men. It has also been related to ingestion of L-Tryptophan, a food supplement sold in health food
stores as a sleeping aid.
Ependymoma 室管膜瘤
Epidermal Nevus Syndrome : a rare disorder characterized by distinctive birth marks (nevus) on the skin. Neurological and skeletal abnormalities may also occur.
This disorder is usually apparent at birth (due to the skin lesions which are most often seen in the midface from the forehead down into the nasal area) and is often
associated with seizures, mental deficiency, eye problems, bone malformations and atrophy of the brain. The exact cause of Epidermal Nevus Syndrome is not known
although an autosomal dominant trait of inheritance seems to occur in approximately two thirds of the cases.
Epidermolysis Bullosa 上皮溶解大泡: (EB) refers to a group of rare, hereditary skin diseases. It is characterized by fragile skin in which blisters and raised
areas, that usually contain fluid (vesicles), develop following minor trauma. In some forms of EB the mucous membranes are involved. Healing is impaired in some forms,
causing multiple scars or damage to underlying muscle tissue (contractures).
Epidermolytic Hyperkeratosis : a hereditary skin disorder that is characterized by thick, blistery, warty hardening of the skin over most of the body. This disorder is a
form of Ichthyosis which is a group of rare skin diseases.
Epididymitis 副睪炎 : is inflammation of the long, tightly coiled tube behind each testicle (epididymis) that carries sperm from the testicle to the spermatic duct.
Affected individuals usually have painful swelling of the one epididymitis and the associated testicle. In some cases, the second testicle may also be tender. In addition,
affected individuals have fever, painful swelling and redness (erythema) of the scrotum, and/or inflammation of the tube from which urine is carried from the bladder
(urethritis). The two main forms of epididymitis are the sexally-transmitted form and the nonspecific bacterial form.
Epilepsy 癲癇﹔a group of disorders of the central nervous system characterized by repeated convulsive (paroxysomal) electrical disturbances in the brain. In epilepsy,
the normal pattern of neuronal activity becomes disturbed, causing strange sensations, emotions, and behavior or sometimes convulsions, muscle spasms, and loss of
consciousness. Epilepsy is a disorder with many possible causes. Anything that disturbs the normal pattern of neuron activity -- from illness to brain damage to abnormal
brain development -- can lead to seizures. Epilepsy may develop because of an abnormality in brain wiring, an imbalance of nerve signaling chemicals called
neurotransmitters, or some combination of these factors. Having a seizure does not necessarily mean that a person has epilepsy. Only when a person has had two or
more seizures is he or she considered to have epilepsy. EEGs and brain scans are common diagnostic test for epilepsy.The major symptoms may include loss of
consciousness, convulsions, spasms, sensory confusion and disturbances in the nerves that control involuntary body functions (autonomic nervous system). Episodes of
these symptoms are frequently preceded by an "aura." An aura is described as a feeling of uneasiness or sensory discomfort that precedes the onset of a seizure.
Epilepsy may take several different forms including: Grand Mal Epilepsy (Major Epilepsy, Status Epilepticus); Jacksonian Epilepsy (Focal Epilepsy); Myoclonic
Progressive Familial Epilepsy (Unverricht Syndrome, Lundborg- Unverricht Disease, Unverricht-Lundborg-Laf Disease); Petit Mal Epilepsy (Minor Epilepsy,
Pyknoepilepsy, Akinetic Seizure, Myoclonic seizure); Myoclonic Astatic Petit Mal Epilepsy (Lennox-Gastaut Syndrome, Petit Mal Variant); Febrile Seizures; and
Psychomotor Epilepsy (Temporal Lobe Epilepsy, Psychomotor Equivalent, Psychomotor Convulsion with Epilepsia Procursiva, Abdominal Epilepsy).
Once epilepsy is diagnosed, it is important to begin treatment as soon as possible. For about 80 percent of those diagnosed with epilepsy, seizures can be controlled
with modern medicines and surgical techniques. Some antiepiletic drugs can interfere with the effectiveness of oral contraceptives. In 1997, the FDA approved the vagus
nerve stimulator for use in people with seizures that are not well-controlled by medication.
Epilepsy, myoclonic progressive familial: a disorder of the central nervous system. It begins in childhood, and is progressive. The main characteristic of this form
of myoclonus is jerking involuntary muscle movements may involve muscles in the limbs or the whole body. As the disease progresses, there is impairment of mental
capabilities, which may lead to loss of reason (dementia). Myoclonic epilepsy can be a symptom of many central nervous system disorders.
Epitheliopathy, Acute Posterior Multifocal Placoid Pigment (APMPPE) : a rare eye disorder of unknown (idiopathic) cause. The disorder is characterized
by the impairment of central vision in one eye (unilateral); within a few days, the second eye may also become affected (bilateral). In most cases, the disorder resolves
within a few weeks without loss of clearness of vision (acuity). However, in some cases, visual acuity does not improve. In approximately 50 percent of the cases, an
influenza-like illness preceded the development of the disorder.
Erb's Palsy ( Brachial Plexus Injury ) : is caused by an injury to one or more nerves that control and supply the muscles of the shoulder and upper extremities
(upper brachial plexus).The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder, arm, and hand. Brachial plexus injuries are
caused by damage to those nerves. Symptoms may include a limp or paralyzed arm, lack of muscle control in the arm, hand, or wrist, and lack of feeling or sensation in
the arm or hand. Although injuries can occur at any time, many brachial plexus injuries happen during birth: the baby's shoulders may become impacted during the birth
process causing the brachial plexus nerves to stretch or tear. There are four types of brachial plexus injuries: avulsion, the most severe type, in which the nerve is torn
from the spine; rupture, in which the nerve is torn but not at the spinal attachment; neuroma, in which the nerve has tried to heal itself but scar tissue has grown around
the injury, putting pressure on the injured nerve and preventing the nerve from conducting signals to the muscles; and neuropraxia or stretch, in which the nerve has
been damaged but not torn. Neuropraxia is the most common type of brachial plexus injury.
Some brachial plexus injuries may heal on their own. Many children improve or recover by 3 to 4 months of age. Treatment for brachial plexus injuries includes
occupational or physical therapy and, in some cases, surgery.
Berkow, R (ed) The Merck Manual of Diagnosis and Therapy vol. II, 16th edition, Merck & Co., Inc., Rahway, NJ, p. 1442 (1992)
Bradley, W, et al (eds) Neurology in Clinical Practice: Principles of Diagnosis and Management vol. II, Butterworth-Heinemann, Boston, pp. 1804-1810 (1991)
Hershman, E. Brachial Plexus Injuries Clinics in Sports Medicine, 9:2; 311-329 (April 1990)
Erdheim Chester Disease : an extremely rare lipid storage disorder. It is characterized by hardening of the growth areas of the long bones of the body. Fatty-like (lipid)
cell deposits (histiocytes) are found in various vital organs of the body such as: heart, lungs, the lining of the abdominal cavity (peritoneum), the kidneys, and other
tissues. Severity of the disease differs with each patient.
Erysipelas 丹毒: a bacterial infection characterized by a spreading inflammation of the skin and its underlying tissue (cellulitis) particularly on the face, arms or legs. It is a
type of cellulitis that is due to an acute infection by streptococci or staphylococcus bacteria.
Erythema Multiforme : an inflammatory skin disorder characterized by symmetric red and blistery (bullous) lesions of the skin or mucous membranes of the hands, feet
and eyelids.
Erythrokeratodermia with Ataxia 魚鱗片角質層: a hereditary skin disorder characterized by groups of red hardened plaques that develop during infancy and
childhood. After these skin lesions heal, a neurological syndrome develops during adulthood. Skin symptoms may improve during the summer months.
Erythrokeratodermia with Ataxia is thought to be inherited as an autosomal dominant genetic trait.
Erythromelalgia 肢端紅痛病 : a rare vascular disorder that affects the skin of the feet and/or hands and is characterized by episodes of sudden widening of the
blood vessels (paroxysmal vasodilatation) in these areas. Symptoms may include severe burning pain, redness, and/or increased skin temperature. Primary or Familial
Erythromelalgia is an inherited disorder. However, when the disorder occurs as a result of another underlying disease, it is called Secondary Erythromelalgia.
Erythropoietic Protoporphyria (EPP)紅血球增生性原紫質沉著症 : is a rare inherited metabolic disorder characterized by a deficiency of the enzyme
ferrochelatase (FECH). Due to abnormally low levels of this enzyme, excessive amounts of protoporphyrin accumulate in the bone marrow, blood plasma, and red blood
cells. The major symptom of this disorder is hypersensitivity of the skin to sunlight and some types of artificial light, such as fluorescent lights (photosensitivity). After
exposure to light, the skin may become itchy and red. Affected individuals may also experience a burning sensation on their skin. The hands, arms, and face are the
most commonly affected areas. Some people with Erythropoietic Protoporphyria may also have complications related to liver and gallbladder function. Erythropoietic
Protoporphyria is inherited as an autosomal dominant genetic trait. Erythropoietic Protoporphyria is one of a group of disorders known as the porphyrias. The
porphyrias are all characterized by abnormally high levels of particular chemicals (porphyrins) in the body due to deficiencies of certain enzymes essential to the
synthesis of hemoglobin. There are at least seven types of porphyria. The symptoms associated with the various types of porphyria differ, depending upon the specific
enzyme that is deficient. It is important to note that people who have one type of porphyria do not develop any of the other types.
Esophageal Atresia and/or Tracheoesophageal Fistula 食道閉鎖 : are disorders of the esophagus that may be inherited as an autosomal recessive
44
 genetic trait, or may result from developmental problems in a fetus. Esophageal Atresia is a condition in which the patient is born with an abnormality in the part of the
digestive tube that runs from below the tongue to the stomach (esophagus). This disorder is commonly associated with Tracheoesophageal Fistula which is an abnormal
tubelike passage between the windpipe and esophagus. Symptoms of these disorders may be excessive salivation, choking, the return of swallowed food into the mouth,
and/or a swollen abdomen when a Tracheoesophageal Fistula is present.
Essential Iris Atrophy 虹膜萎縮: a very rare, progressive disorder of the eye characterized by a pupil that is out of place and/or distorted, areas of degeneration on
the iris (atrophy), and/or holes in the iris. This disorder most frequently appears in young and middle-aged women, usually affecting only one eye (unilateral) and
developing slowly over time. Attachment of portions of the iris to the cornea (peripheral anterior synechiae) and/or abnormalities in the cornea may lead to secondary
glaucoma and vision loss.
Exostoses, Multiple 骨疣: a rare disorder that is inherited as an autosomal dominant genetic trait. This disorder is characterized by multiple bony growths or tumors
(exostoses) that are covered by cartilage. The bone tumors continue to grow until shortly after puberty and may cause deformities especially of the ankle, knee, and
wrist.
Exstrophy of the Bladder 膀胱外翻 : a rare developmental abnormality that is present at birth (congenital) and is characterized by the absence of a portion of the
lower abdominal wall and the front part of the bladder wall (anterior vesical wall). The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy)
through the opening in the abdominal wall and urine is excreted through this opening. The exact cause of Exstrophy of the Bladder is not known. The physical
characteristics of this disorder are the result of developmental abnormalities during embryonic or fetal growth.

F
Fabry's disease 法布瑞氏病( 磷脂質貯積症 ): an X-linked lysosomal-storage disorder, is due to a deficiency of -galactosidase A (an enzyme
involved in the biodegradation of lipids ). It’s characterized by the abnormal accumulation of certain fatty substances (i.e., glycolipids such as glycosphingolipid) in
various organs of the body. Symptoms may include clusters of wart-like discolorations on the skin (angiokeratomas), abdominal pain, and/or visual impairment. Later in
the course of the disease, kidney failure, heart problems, and/or neurological symptoms may cause serious complications. Fabry Disease is inherited as an X-linked
recessive genetic trait, and affects mostly males, so only the mother needs to be a carrier to produce an affected child. Her sons have a 50 percent chance of having the
condition, and her daughters have a 50 percent chance of being a carrier. Some of the female carriers exhibit signs of the condition, especially cloudiness of the cornea.
In addition to the eye manifestations, males characteristically have burning sensations in their hands and feet that is worse with exercise and hot weather. Most of the
males have small, raised, reddish-purple blemishes on their skin. As they grow older, they may have impaired arterial circulation leading to early heart attacks and
strokes. The kidneys become progressively involved, and many patients have required kidney transplantation or dialysis. A number of patients have gastrointestinal
difficulties characterized by frequent bowel movements shortly after eating. This disorder is due to a deficiency of a lipid breakdown enzyme known as
ceramidetrihexosidase, also called alpha-galactosidase A. Its function is to cleave to a molecule of galactose from a lipid that arises primarily from old red blood cells.
The pain in the hands and feet usually responds to medications such as Tegretol (carbamazepine) and dilantin. Gastrointestinal hyperactivity may be treated with
metoclopramide or Lipisorb(a nutritional supplement). Recent experiments indicate that enzyme replacement is effective therapy for patients with this disorder.
Alpha-Galactosidase A Deficiency: Fabry Disease Chapter 89 in The Metabolic and Molecular Basis of Inherited Disease, 7th edition, McGraw-Hill, Inc., New York, pp.
2741-2784 (1995)
Enzymatic Defect in Fabry's Disease. Ceramidetrihexosidase Deficiency The New England Journal of Medicine, 276; 1163-1167 (1967)
Replacement Therapy for Inherited Enzyme Deficiency: Use of Purified Ceramidetrihexosidase in Fabry's Disease The New England Journal of Medicine, 289; 9-14
(1973)
Infusion of Alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease Proceedings of the National Academy of Sciences, USA,
97; 365-37- (2000)
Facioscapulohumeral Muscular Dystrophy(also known as Landouzy-Dejerine Muscular Dystrophy): a neuromuscular disorder inherited as an
autosomal dominant trait. Weakness of the facial muscles giving a mask-like appearance, as well as weakness of the shoulder girdle, typically appear anytime during the
first two decades of life. The amount of muscle weakness can vary from slight to severe. A more severe form of Facioscapulohumeral Muscular Dystrophy is apparent
during infancy and has a rapid progression.
Factor IX deficiency 第九凝血因子缺乏症: a severe genetic bleeding disorder that resembles classic Hemophilia A, although it occurs only one-fifth as often
as Hemophilia A. Factor IX is a component of the blood clotting substance thromboplastin. It is deficient at birth in patients with this disorder. Factor IX Deficiency varies
in severity between families and occurs most often among males. In rare instances, female carriers have been known to exhibit this deficiency in a mild form. Symptoms
include prolonged bleeding episodes, and in very severe cases, joint pain and bone deformities.
Factor XIII deficiency 第八凝血因子缺乏症: an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal
bleeding. Associated symptoms and findings occur as the result of a deficiency in the blood clotting factor F13A1 (Factor XIII). In affected individuals, the blood fails to
clot appropriately, resulting in poor wound healing. Blood may seep into surrounding soft tissues, resulting in local pain and swelling. Internal bleeding may occur;
approximately 25 percent of affected individuals experience bleeding in the brain (intracranial hemorrhage). Factor XIII Deficiency may be inherited as an autosomal
dominant genetic trait. The disease may also be acquired in association with other disorders such as Sickle Cell Disease or Henoch-Schonlein Purpura.
Fahr's disease: a rare degenerative neurological disorder characterized by the presence of abnormal calcium deposits (calcifications) and associated cell loss in certain
areas of the brain (e.g., basal ganglia and the cerebral cortex). The condition is often referred to as idiopathic basal ganglia calcification or IBGC because there is no
apparent explanation for such calcification in these brain regions (idiopathic). Associated symptoms include progressive deterioration of cognitive abilities (dementia) and
loss of acquired motor skills. As the condition progresses, paralysis may develop that is associated with increased muscle stiffness (rigidity) and restricted movements
(spastic paralysis). Additional abnormalities may include relatively slow, involuntary, continual writhing movements (athetosis) or chorea, a related condition
characterized by irregular, rapid, jerky movements. In some affected individuals, there may also be gradual deterioration of the nerve fibers that transmit impulses from
the retinas to the brain (optic atrophy), a condition associated with partial or near complete visual impairment. According to reports in the medical literature, Fahr's
Disease is often familial. Familial Fahr's Disease may be transmitted as an autosomal recessive trait or, in other affected families (kindreds), may have autosomal
dominant inheritance. In other instances, the condition appears to occur randomly for unknown reasons (sporadically). Some experts suggest that the condition may
sometimes result from an unidentified infection during pregnancy affecting the developing fetus (intrauterine infection).
There is no cure for Fahr's syndrome, nor is there a standard course of treatment. Treatment is symptomatic.
Billard C, Dulac O, Bouloche J, Echenne B, Lebon P, Motte J, Robain O, Santini JJ. Encephalopathy with calcifications of the basal ganglia in children. A reappraisal of
Fahr's syndrome with respect to 14 new cases. Neuropediatrics. 1989 Feb;20(1):12-9.
Callender, J. S. Non-progressive familial idiopathic intracranial calcification: a family report. Journal of Neurology Neurosurgery and Psychiatry. 59: 432-434, 1995.
Geschwind, D. H.; Loginov, M.; Stern, J. M. Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). American Journal of
Human Genetics. 65: 764-772, 1999.
Lauterbach EC, Cummings JL, Duffy J, Coffey CE, Kaufer D, Lovell M, Malloy P, Reeve A, Royall DR, Rummans TA, Salloway SP. Neuropsychiatric correlates and
treatment of lenticulostriatal diseases: a review of the literature and overview of research opportunities in Huntington's, Wilson's, and Fahr's diseases. A report of the
ANPA Committee on Research. American Neuropsychiatric Association. Journal of Neuropsychiatry and Clinical Neurosciences. 1998 Summer;10(3):249-66.
Rosenblatt A, Leroi I. Neuropsychiatry of Huntington's disease and other basal ganglia disorders. Psychosomatics. 2000 ;41(1):24-30.
Fairbank disease : a mild form of dwarfism inherited as a dominant trait. Symptoms may not be apparent during early childhood, but pain may later occur in hips, knees
or ankles due to developmental abnormalities of bones in the hips. Stature may be only slightly shortened while arms, legs, fingers or toes may be unusually short. In
some cases, movement may be somewhat restricted.
Farber's disease : a rare inherited metabolic disorder. Major symptoms may include hoarseness, painful and swollen joints, nodules under the skin, and growths in the
lungs and other parts of the body. The heart and lymph nodes may also be involved. Difficulty in breathing may necessitate the implantation of a breathing tube
(tracheostomy) in the throat. Farber's Disease is inherited as an autosomal recessive genetic trait
Fascioliasis 瓜仁蟲病: a rare infectious disorder caused by parasites. These parasites are liver flukes that live in plant-eating animals. Liver flukes can be found on
45
 water plants in certain parts of the world. When the parasite invades the liver, bile passages may be blocked. A subdivision of Fascioliasis called Halzoun Syndrome
affects the throat (pharynx). This infection can usually be controlled and/or cured with timely treatment.
Felty syndrome : a rare form of Rheumatoid Arthritis, a disorder characterized by painful, stiff, and swollen joints. Major symptoms and physical findings of Felty
Syndrome include an unusually large spleen (splenomegaly) and abnormally low levels of certain white blood cells (neutophils [neutropenia]). As a result of neutropenia,
affected individuals may have an increased susceptibility to certain infections. Other symptoms associated with Felty Syndrome may include fatigue, fever, weight loss,
and/or discoloration of patches of skin (brown pigmentation). The exact cause of Felty Syndrome is unknown. It is believed to be an autoimmune disorder.
Femoral Facial Syndrome : a rare disorder that occurs for no apparent reason (sporadically). However, there have been two reported cases in which the disorder was
believed to be inherited as an autosomal dominant genetic trait. The major symptoms of this disorder are underdeveloped thigh bones and unusual facial features.
Fetal alcohol syndrome :胎兒酒精症候群 (FAS) is a characteristic pattern of birth defects that result due to maternal use of alcohol during pregnancy. The
range and severity of associated symptoms and findings may be extremely variable from case to case. However, the disorder may be characterized by growth delays
before and after birth (prenatal and postnatal growth retardation); distinctive malformations of the head and facial (craniofacial) area, including an unusually small head
(microcephaly); brain abnormalities; heart defects; and/or other physical findings. Affected infants and children may also have learning and behavioral abnormalities,
such as increased irritability during infancy, mild to severe mental retardation, short attention span, poor judgment, and impulsiveness.
Fetal hydantoin syndrome : a rare disorder that is caused by exposure of a fetus to phenytoin (Dilantin) which is an anticonvulsant drug prescribed for epilepsy. Major
symptoms of this disorder may include abnormalities of the skull and facial features, growth deficiencies, underdeveloped nails of the fingers and toes, and/or
developmental delays.
Fetal Valproate Syndrome : a rare congenital disorder caused by exposure of the fetus to valproic acid (dalpro, depakene, depakote, depakote sprinkle, divalproex,
epival, myproic acid) during the first three months of pregnancy. Valproic acid is an anticonvulsant drug used to control certain types of seizures in the treatment of
epilepsy. A small percentage of pregnant women who take this medication can have a child with Fetal Valproate Syndrome. The exact prevalence of this condition
remains to be established. Symptoms of this disorder may include spina bifida, distinctive facial features, and other musculoskeletal abnormalities.
FG syndrome : an uncommon hereditary disorder that affects males. The presence and severity of symptoms vary from patient to patient. Some females may have certain
physical characteristics related to FG Syndrome because they are "carriers" of the trait, but they are not affected by the disorder itself. Males with FG Syndrome may
have mental retardation, an absence of an anal opening (imperforate anus) or an abnormally placed anus, constipation, diminished muscle tone (hypotonia), a large
head and certain other physical characteristics. Deafness may be present in some patients. Individuals with FG Syndrome seem to have a specific personality type and
are often friendly, outgoing, and hyperactive with a short attention span.
Fiber Type Disproportion, Congenital (CFTD): a rare genetic muscle disease that is apparent at birth. Major symptoms may include loss of muscle tone
(hypotonia) and weakness, scoliosis, a drawing up of the muscles, high arched palate, dislocated hips, short stature, and deformities of the feet.
Fibrousdysplasia ossificans progressiva (FOP) : a very rare inherited connective tissue disorder characterized by the abnormal development of bone in areas
of the body where bone is not normally present (heterotopic ossification), such as the ligaments, tendons, and muscles. Major symptoms may include skeletal
malformations and/or abnormally short and malformed toes and fingers. The abnormal development of bone may lead to stiffness in affected areas and may also limit
movement in affected joints (e.g., knees, wrists, shoulders, spine, and/or neck). Fibrodysplasia Ossificans Progressiva usually begins during early childhood and
progresses throughout life. Most cases of FOP occur randomly (sporadic). However, researchers believe that the defective gene(s) responsible for this disorder may be
inherited as an autosomal dominant genetic trait.
Fibromatosis, Congenital Generalized : a rare disorder characterized by multiple noncancerous tumors. It is an invasive and recurring disorder that can involve the
bones, internal organs, skin and muscles. These tumors are usually present at, or may occur within a few months of birth.
Fibromyalgia : a chronic disorder characterized by pain throughout much of the body. The pain may begin gradually or have a sudden onset. Other symptoms are muscle
spasms, fatigue, muscle tissue stiffness and non- restorative (unrefreshing) sleep. The exact cause of this disorder is unknown. The terms Fibrositis, Fibromyositis,
Periarticular Fibrositis and Rheumatoid Myositis are still being used by many to describe this condition. The ending of "itis" on each of these terms is actually incorrect.
"Itis" means inflammation, and there is no inflammation in Fibromyalgia. The term Fibromyalgia has now become the accepted term, but many people continue to be
diagnosed with the other synonyms. Tension Myalgia is another synonym that is currently being used.
Filariasis 絲蟲病: an infectious tropical disease caused by the round worm parasites Wuchereria bancrofti or Brugia malayi. It is characterized by swollen lymph nodes
(lymphadenopathy) and chronic lymphatic obstruction. Over extended periods of time obstruction of the flow of body fluid may cause profoundly swollen areas of the
body (elephantiasis), especially the legs and external genitals. The larval form of the parasite is transmitted to humans by the bite of a mosquito. These invade the
lymphatic system where they mature and reproduce. Symptoms are primarily a response to adult worms which cause inflammation. Chronic inflammation may progress
to hardening of the lymphatic vessels (fibrosis) and obstruction of the lymph flow.
Filippi Syndrome : a very rare disorder characterized by webbing of the fingers and toes (syndactyly), permanently bent fingers (clinodactyly), an abnormally small head
(microcephaly), severe to mild mental and physical retardation, and an unusual facial appearance. This disorder is thought to be inherited as an autosomal recessive
genetic trait.
Fitz Hugh Curtis Syndrome : a rare disorder that develops in females as a result of complications of pelvic inflammatory disease. The disorder is characterized by
string-like scar tissue (adhesions) that attaches between the liver and other sites in the abdominal lining (peritoneum). Symptoms can mimic those of hepatitis. Severe
pain in the upper right area of the abdomen is usually present. Infection occurs, caused by the Chlamydia trachomatis bacteria.
Floating Harbor Syndrome : a very rare disorder characterized by short stature, delayed language skills, and a triangular shaped face. A broad nose, deep-set eyes
and a wide mouth with thin lips give the affected patient a distinct appearance. FHS was named after the hospitals at which the first two patients were seen: the Boston
Floating Hospital and Harbor General Hospital in California. The cause of this disorder is not known.
Focal Dermal Hypoplasia : a rare form of ectodermal dysplasia that is thought to be inherited as an X-linked dominant genetic trait with lethality in males. It is found
primarily in females. This disorder is characterized by skin abnormalities in which there are underdeveloped areas of skin that form streaks or lines and tumor-like
herniations of fat on the skin. Skeletal, facial, dental, ocular and soft tissue defects are also present.
Forbes Albright Syndrome : a rare endocrine disorder characterized by the abnormal production of breast milk (lactation), lack of ovulation (anovulation), and the
absence of regular menstrual periods (amenorrhea). This disorder is usually caused by a hormone secreting tumor of the pituitary or hypothalamus gland (adenoma)
which produces excessive amounts of prolactin.
Forbes Disease 佛伯氏病 ( 肝醣貯肌症第三型 ): a glycogen storage disorder inherited through autosomal recessive genes. Symptoms are caused by a
lack of the enzyme amylo-1,6 glucosidase (debrancher enzyme). This enzyme deficiency causes excess amounts of glycogen (the stored form of energy that comes
from carbohydrates) to be deposited in the liver, muscles and heart. The heart may be involved in some cases.
Forestier's Disease : also known as diffuse idiopathic skeletal hyperostosis (DISH), is a musculoskeletal disorder that generally affects males and females over the age
of 50 years. The disorder is characterized by bony overgrowth (hyperostosis) of the forward, side (anterolateral) portions of bones of the spinal column (vertebrae) and/or
sites where tendons join bones (tendon osseous junctions), such as the elbow, knee (patella), and/or heel of the foot. Such overgrowth most often affects vertebrae from
below the neck to the middle of the back (thoracic vertebrae). However, in some cases, bony outgrowths (osteophyte formation) may affect the vertebrae of the neck
(cervical vertebrae). Individuals with the disorder may experience inflammation, pain, stiffness, and restricted movements of the affected areas. In addition, individuals
with neck involvement may have difficulties swallowing (dysphagia). The exact cause of Forestier� s Disease is not known.
Formaldehyde Poisoning 甲醛中毒: a disorder brought about by breathing the fumes of formaldehyde. This can occur while working directly with formaldehyde,
or using equipment cleaned with formaldehyde. Major symptoms may include eye, nose, and throat irritation; headaches; and/or skin rashes.
Fountain Syndrome: an extremely rare inherited disorder that is characterized by mental retardation; abnormal swelling of the cheeks and lips due to the excessive
accumulation of body fluids under the skin (subcutaneous) of the face (edema); skeletal abnormalities; and/or deafness due to malformation of a structure (cochlea)
within the inner ear. Fountain Syndrome is thought to be inherited as an autosomal recessive genetic trait.
Fox Fordyce Disease : a rare disorder that occurs almost solely in women. It is characterized by the development of intense itching usually in the underarm area, the
pubic area, and around the nipple of the breast. Perspiration becomes trapped in the sweat gland and in the surrounding area causing intense itching, inflammation, and
46
 enlargement of the glands. Skin in the area may become darkened and dry; raised patches develop. Hair follicles in the area dry out resulting in loss or breakage of hair.
Fragile X Syndrome : a defect of the X chromosome which causes mild mental retardation. The disorder occurs more frequently and severely among males than
females. This condition is the leading known familial cause of mental retardation in the United States. Language delays, behavioral problems, autism or autistic-like
behavior (including poor eye contact and hand-flapping), enlarged external genitalia (macroorchidism), large or prominent ears, hyperactivity, delayed motor
development and/or poor sensory skills are among the wide range of symptoms associated with this disorder.
Fraser Syndrome : a rare genetic disorder characterized by partial webbing of the fingers and/or toes (partial syndactyly), kidney (renal) abnormalities, genital
malformations, and/or, in some cases, complete fusion of the eyelids (cryptophthalmos) that may be associated with malformation of the eyes, causing blindness. In
infants with Fraser Syndrome, renal malformations may include improper development (dysplasia), underdevelopment (hypoplasia), or absence of one or both kidneys
(unilateral or bilateral renal agenesis). In affected males, one or both testes may fail to descend into the scrotum (cryptorchidism), the urinary opening (meatus) may be
abnormally placed on the underside of the penis (hypospadias), and/or the penis may be abnormally small (micropenis). Affected females may have malformed fallopian
tubes, an abnormally enlarged clitoris (clitoromegaly), and/or an abnormally shaped uterus (bicornate uterus). In addition, the folds of skin on either side of the vaginal
opening (labia) may be abnormally fused. Infants and children with Fraser Syndrome may also have additional abnormalities including malformations of the middle and
outer ear that may result in hearing impairment. Fraser Syndrome is inherited as an autosomal recessive genetic trait.
Freeman Sheldon Syndrome : a rare inherited disorder characterized by multiple contractures (i.e., restricted movement around two or more body areas) at birth
(congenital), abnormalities of the head and face (craniofacial) area, defects of the hands and feet, and skeletal malformations. Craniofacial abnormalities may consist of
characteristic facial features that cause the individual to appear to be whistling. These features include an extremely small puckered mouth (microstomia); a "full"
forehead appearance; unusually prominent cheeks; and thin, pursed lips. Affected infants may also have an unusually flat middle portion of the face, a high roof of the
mouth (palate), an unusually small jaw (micrognathia), an abnormally small tongue (microglossia), and/or a raised, scar-like mark in the shape of an "H" or a "V"
extending from the lower lip to the chin. Affected infants often have abnormalities affecting the eyes including widely-spaced deep-set eyes, crossed eyes (strabismus),
and/or downslanting eyelid folds (palpebral fissures). Malformations of the hands and feet are also characteristic of Freeman-Sheldon syndrome. Children with
Freeman-Sheldon syndrome may also exhibit speech impairment; swallowing and eating difficulties; vomiting; failure to grow and gain weight at the expected rate
(failure to thrive); and/or respiratory problems that may result in life-threatening complications. Freeman-Sheldon syndrome can be inherited as an autosomal dominant
genetic trait. However, most cases occur randomly with no apparent cause (sporadically).
Frey's Syndrome : a rare neurological disorder that results from injury or surgery near the parotid glands (which manufacture saliva), damaging the facial nerve. The
parotid glands are the largest salivary glands and are located on the side of the face below and in front of the ear. This syndrome is characterized by flushing or sweating
on one side of the face when certain foods are consumed. The symptoms usually are mild and well tolerated by most individuals. Relief from symptoms may require
treatment in some cases.
Froelich's Syndrome: a rare endocrine disorder characterized by delayed puberty, small testes, and obesity. This syndrome affects mostly males. In recent years,
Froelich's Syndrome has referred only to boys who also have lesions in the hypothalamic gland and exhibit the symptoms. Teen-age boys with this disorder must be
distinguished from those who have inherited growth delay disorders or Prader Willi Syndrome.
Frontofacionasal Dysplasia 額、臉與鼻發育異常: a very rare disorder in which the patient is born with abnormalities of the skull and face. Cleft lip and palate
as well as premature closing of the soft spot (coronal suture) on the top of the head causing excess growth of the head from side to side. A variety of malformations of
the eyes, nose and bones of the skull may also be present. Frontofacionasal Dysplasia is inherited as an autosomal recessive genetic trait.
Frontonasal Dysplasia 額與鼻發育異常: also known as Median Cleft Face Syndrome, is a very rare disorder characterized by abnormalities affecting the head
and facial (craniofacial) region. Major physical characteristics may include widely spaced eyes (ocular hypertelorism); a flat broad nose; and/or a vertical groove down
the middle of the face. The depth and width of the vertical groove may vary greatly. In some cases, the tip of the nose may be missing; in more severe cases, the nose
may separate vertically into two parts. In addition, an abnormal skin-covered gap in the front of the head (anterior cranium occultum) may also be present in some cases.
The exact cause of Frontonasal Dysplasia is not known. Most cases occur randomly, for no apparent reason (sporadically). However, some cases are thought to run in
families.
Fructose Intolerance, Hereditary : an autosomal recessive genetically caused inability to digest fructose or its precursors sucrose (sugar, sorbitol and brown sugar).
This is due to a deficiency of the enzyme 1- phosphofructoaldolase in the liver, kidney cortex and small intestine.
Fructosuria 果糖尿症: a very rare inherited metabolic disorder. It is characterized by the excretion of fruit sugar (fructose) in the urine. Normally, no fructose is
excreted in the urine. This condition is caused by a deficiency of the enzyme fructokinase in the liver. This enzyme is needed for the synthesis of glycogen (the body's
form of stored energy) from fructose. The presence of fructose in the blood and urine may lead to an incorrect diagnosis of Diabetes Mellitus.
Fryns Syndrome : an extremely rare disorder that consists of a group of deformities including unusual facial features, hand and foot abnormalities, poor lung and
urogenital development, and, in many cases, diaphragm hernias. There may also be an associated brain cyst known as the Dandy Walker feature.
Fucosidosis : an extremely rare inherited lysosomal storage disease characterized by a deficiency of the enzyme alpha-L-fucosidase. This disorder belongs to a group of
diseases known as lysosomal storage disorders. Lysosomes are particles bound in membranes within cells that break down certain fats and carbohydrates. Low levels
of the alpha-L-fucosidase enzyme lead to the abnormal accumulation of certain fucose-containing complex compounds (i.e., glycosphingolipids, glycolipids, and
glycoproteins) in many tissues of the body. Many researchers believe there are two types of Fucosidosis (i.e., Type 1 and Type 2), determined mainly by the severity of
the symptoms. Other scientists theorize there are three types, with the age of onset and the disease severity being the determining factors. The symptoms of
Fucosidosis Type 1, the most severe form of the disease, may become apparent as early as six months of age. Symptoms may include progressive deterioration of the
brain and spinal cord (central nervous system), mental retardation, loss of previously acquired intellectual skills, and growth retardation leading to short stature. Other
physical findings and features become apparent over time including multiple deformities of the bones (dysostosis multiplex), coarse facial features, enlargement of the
heart (cardiomegaly), enlargement of the liver and spleen (hepatosplenomegaly), and/or episodes of uncontrolled electrical activity in the brain (seizures). Additional
symptoms may include increased or decreased perspiration and/or malfunction of the gallbladder and/or salivary glands. In Fucosidosis Type 2, deterioration of the
central nervous system becomes apparent in the first few years of life; symptoms progress more slowly than in Type 1. Other symptoms may be similar to but milder
than those of Type 1. The most noticeable feature distinguishing Fucosidosis Types 1 from Type 2 is the appearance of horny or warty growths (angiokeratomas) on the
skin in those individuals with Type 2. Fucosidosis Types 1 and 2 may be found in the same family. Many researchers believe that there is no clear distinction between the
three proposed types of Fucosidosis and that they actually represent varying clinical expressions of the disorder rather than distinct subtypes. Fucosidosis is inherited as
an autosomal recessive genetic trait.
G
Galactosemia 半乳糖血症: a rare, hereditary disorder of carbohydrate metabolism that affects the body's ability to convert galactose (a sugar contained in milk,
including human mother's milk) to glucose (a different type of sugar). Galactose is converted to glucose by a series of three enzyme reactions. The disorder is caused by
a deficiency of an enzyme known as "galactose-1-phosphate uridyl transferase" which is vital to this process. Two variants of the gene for Galactosemia have been
identified. One causes a milder form of the disorder, while the other is the cause of a more severe form. These variants can be distinguished by differences in galactose
metabolism since each affects a different step in the conversion process. Because milk is the staple of an infant's diet, early diagnosis and treatment of this disorder is
absolutely essential to avoid serious lifelong disability.
Galloway Mowat Syndrome : also known as Microcephaly-Hiatal Hernia-Nephrotic Syndrome, is an extremely rare genetic disorder that is characterized by a variety
of physical and developmental abnormalities. Physical features may include an unusually small head (microcephaly) and additional abnormalities of the head and facial
(craniofacial) area; damage to clusters of capillaries in the kidneys (focal glomerulosclerosis and/or diffuse mesangial sclerosis), resulting in abnormal kidney function
(Nephrotic Syndrome); and, in many cases, protrusion of part of the stomach through an abnormal opening (esophageal hiatus) in the diaphragm (hiatal hernia).
Additional physical abnormalities are often present. These may include various malformations of the brain, seizures, diminished muscle tone throughout the body
(generalized hypotonia), and/or increased reflex reactions (hyperreflexia). Infants and children with Galloway-Mowat Syndrome may also exhibit developmental
abnormalities including an inability to perform certain movement (motor) skills normal for their age and a profound delay in the attainment of skills requiring the
coordination of muscular and mental activity (psychomotor retardation). Mental retardation may also be present. Galloway-Mowat Syndrome is inherited as an autosomal
recessive genetic trait.

47
Gardner Syndrome : a rare, inherited disorder characterized by multiple growths (polyps) in the colon, (often 1,000 or more), extra teeth (supernumerary), bony tumors
of the skull (osteomas), and fatty cysts and/or fibrous tumors in the skin (fibromas or epithelial cysts). Gardner Syndrome is a variant of Familial Adenomatous Polyposis
which is a group of disorders characterized by the growth of multiple polyps in the colon.
Gastritis, Chronic, Erosive : characterized by many inflamed lesions in the mucous lining of the stomach. It may be a transitory or a chronic condition lasting for years.
Gastritis, Giant Hypertrophic : a chronic digestive disorder characterized by large, coiled ridges or folds, in the inner wall of the stomach which resemble polyps. In
some cases, inflammation of the stomach may also occur.
Gastroenteritis, Eosinophilic : a rare digestive disease characterized by an abnormal infiltration of certain white blood cells (eosinophils) in the lining of the stomach,
small intestines and/or large intestine.
Gastroesophageal Reflux : characterized by a flowing back (reflux) of stomach or small intestines (duodenum) acids or contents into the mouth, from the tube in the
back of the mouth going to the stomach (esophagus) and sometimes the mouth. This condition is a common problem and may be a symptom of other gastrointestinal
disorders.
Gastroschisis 腹裂畸形 : a rare congenital disorder in which the patient is born with a defect in the wall of the abdomen. Typically there is a small abdominal cavity
with herniated intestines that usually appear on the right outerside of the abdomen. There is no membranous sac covering the intestines and they may be swollen and
look shortened due to exposure to the liquid that surrounds the fetus during pregnancy (amniotic fluid).
Gaucher Disease 高雪氏症, 脾腫, 色素皮, 鞏膜瞼裂 : the most common of the lipid storage diseases (which include Tay-Sachs, Fabry's, and
Neimann-Pick diseases). Lipids are various fats or fat-like substances in the body. Lipids are stored by the body to be used as energy at a later time. There are three
forms of Gaucher disease: Type I (nonneuroleptic); Type II (acute neuroleptic, or infantile cerebral); Type III (subacute neuroleptic). Major symptoms include an enlarged
spleen and/or liver, bone deterioration, acute attacks of bone pain, and a low level of iron in the red blood cells (anemia).
Gaucher disease is a rare enzyme deficiency disorder which researchers estimate may be present in 10,000 to 20,000 Americans. It is the most frequently inherited
disorder in the Ashkenazic Jewish population. Gaucher disease is characterized by a remarkable degree of variability in its clinical signs and symptoms, ranging from
severely affected infants to asymptomatic adults. Many patients suffer from anemia, bone damage, and enlarged livers and spleens, while a few develop severe
central nervous system damage and die. All Gaucher patients have a genetic defect in the enzyme glucocerebrosidase which results in the accumulation of the lipid
glucocerebroside in the lysosome. On the basis of clinical signs and symptoms, patients with Gaucher disease have been classified into three major types: (1)
non-neuropathic; (2) acute neuropathic; and (3) subacuteneuropathic. The most striking difference among the three types is the presence of neurologic manifestations
and the rate of their progression, but even people with the same type of the disorder may differ in clinical presentation. For example, some patients with type 1
Gaucher disease, which is by far the most common type, may display anemia, low blood platelets, massively enlarged livers and spleens, and extensive skeletal disease.
In contrast, other type 1 patients may have no symptoms and are identified only during screening or evaluation for other diseases. The gene for the enzyme
glucocerebrosidase on chromosome 1q21 has been characterized and sequenced, and multiple mutations ( q21~q31, at least 34 mutation site ) in this gene have been
identified. Genotypic data is being used to determine to what extent a person's phenotype or prognosis can be accurately predicted through current DNA mutation
analysis. While the availability of molecular techniques has made possible early prenatal diagnosis, detection of individuals carrying the disease, and population
screening for Gaucher disease, the advisability and usefulness of these techniques remain unresolved.
Current treatment for Gaucher’s disease involves administration of intravenous glucocerebrosidase ( Imiglucerase , Cerezyme, approved in Mar. ’94 to replace the
alglucerase , Ceredase, approved in Apr. ’91) to degrade glucocerebroside stored in lysosomes. Lowering the rate of biosynthesis of glucocerebroside should decrease
accummulation of this substrate. OGT 918 (N-butyldeoxynojirimycin), an inhibitor of glucosyltransferase, as a novel oral treatment for non-neuronopathic Gaucher’s
disease.
Timothy C, Robin L, Carla H, et al. Novel oral treatment of Gaucher’s disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 355:
1481-85, 2000
Gerstmann Syndrome : a rare neurological disorder that can occur as the result of a brain injury or as a developmental disorder. The syndrome is characterized by the
loss or absence of certain sensory abilities. These include the loss of the ability to express thoughts in writing (agraphia), to perform simple arithmetic problems
(acalculia), to recognize or indicate one's own or another's fingers (finger agnosia), and to make a distinction between right and left.
Gianotti Crosti Syndrome : a rare skin disease affecting children between the ages of nine months to nine years. Major symptoms may include blisters on the skin of
the legs, buttocks and arms. The disorder is usually preceded by a viral infection.
Giardiasis : an infectious disorder of the gastrointestinal tract caused by a genus of protozoan parasite known as Giardia lamblia. This disorder may not cause noticeable
symptoms, but when many of these parasites are present, absorption of nutrients is diminished. Additionally, acute gastrointestinal discomfort, chronic or acute diarrhea,
and other digestive system abnormalities can occur. This disorder has occurred in epidemics associated with contaminated water in which infected beavers live because
parasites in the cyst stage from beavers are infectious to humans. These cysts can survive in cold water for several months.
Gilbert's syndrome : One of a benign (harmless) group of metabolic abnormalities, Gilbert Syndrome is a hereditary disorder leading to a defect in the clearance
(removal) of bile pigment (bilirubin) from the liver. It results in mild conjunjugated bilirubinamia due to diminished activity of the bilirubin-conjugated enzyme
UDP-glucuronoyltransferase. As a result of homozygosity for a polymorphism in the promoter of the gene that encodes UGT. This syndrome is common but innocuous
and easily controllable.
Kaptan M, Hammerman C, Renbaum P, Klein G & Levy-Lahad E. Gilberet's syndrome & hyperbilirubinamia in ABO-incompatible neonates. Laaancet
356: 652-653, 2000.
Glioblastoma Multiforme : a highly malignant, rapidly infiltrating, primary brain tumor, with tentacles that may invade surrounding tissue. This provides a butterfly-like
distribution pattern through the white matter of the cerebral hemispheres. The tumor may invade a membrane covering the brain (the dura), or spread via the spinal fluid
through the ventricles of the brain. Spread of the tumor (metastasis) outside the brain and spinal cord is rare.
Glucose Galactose Malabsorption (carbohydrate intolerance) : a genetic disorder characterized by the small intestine's inability to transport and absorb
glucose and galactose (sugars which can be broken down no further, or monosaccharides). Glucose and galactose have almost identical chemical structures, and
normally the same transport enzyme provides them with entry into specialized cells in the small intestine where they are absorbed and transferred to other cells.
Glucose-Galactose Malabsorption is inherited as an recessive genetic trait. The defective gene responsible for this disorder (the sodium-glucose cotransporter [SGLT1])
is located on the long arm of chromosome 22 (22q13.1) The glucose and galactose which have not been absorbed through the specialized cells of the small intestine
are then poorly absorbed much further along in the intestine. This abnormal absorption may interfere with other intestinal absorption processes.
Glucose-6-Phosphate Dehydrogenase Deficiency 葡萄糖磷酸鹽脫氫脢缺乏症；蠶豆症( 中國人最常見的先天代謝疾病 ) : an
inherited metabolic disorder characterized by a deficiency of Glucose-6-Phosphate Dehydrogenase, an enzyme that is essential in sugar (glucose) metabolism and
provides red blood cells with defense against destruction by certain drugs. A deficiency of this enzyme may result in the premature destruction of red blood cells
(hemolytic anemia) when an affected individual is exposed to certain medications or chemicals, experiences certain viral or bacterial infections, and/or inhales the pollen
of or consumes fava beans (favism). More than 300 variants of the disorder have been identified, resulting from mutations of the Glucose-6-Phosphate Dehydrogenase
gene. The severity of symptoms associated with G6PD Deficiency may vary greatly among affected individuals, depending upon the specific form of the disorder that is
present. Glucose- 6-Phosphate Dehydrogenase Deficiency is inherited as an X-linked genetic trait.
Glutaricaciduria I 第一型戊二酸尿症 : a rare hereditary metabolic disorder, caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase. One of a group
of disorders known as "organic acidemias," it is characterized by decreased muscle tone (hypotonia), vomiting, and excess acid in the blood. Affected individuals may
also have involuntary movements of the trunk and limbs (dystonia or athetosis) and mental retardation may also occur.
Glutaricaciduria II 第二型戊二酸尿症: There are two forms of Glutaricaciduria II which occur during different stages of life. They are both forms of organic
acidemias which are a group of metabolic disorders characterized by excess acid in the blood and urine. 1) Glutaricaciduria IIA (GA IIA), Neonatal Form of
Glutaricaciduria II. This neonatal form of Glutaricaciduria II is a very rare, sex-linked hereditary disorder characterized by large amounts of glutaric and other acids in
blood and urine. Some researchers believe the disorder is caused by a defect in the breakdown of acyl-CoA compounds. 2) Glutaricaciduria IIB (GA IIB; Ethylmalonic
Adipicaciduria), Adult Form of Glutaricaciduria II. This milder form of the disorder is inherited as an autosomal recessive trait. Acidity of the body tissues (metabolic

48
 acidosis), and a low blood sugar level (hypoglycemia) without an elevated level of ketones in body tissues (ketosis), occur during adulthood. Large amounts of glutaric
acid in the blood and urine are caused by a deficiency of the enzyme "multiple acyl- CoA dehydrogenase."
Glycogen Storage Disease VIII 第二型肝醣貯積症: an X-linked genetic disorder caused by a deficiency of the enzyme liver phosphorylase kinase. The
disorder is characterized by slightly low blood sugar (hypoglycemia). Excess amounts of glycogen (the stored form of energy that comes from carbohydrates) are
deposited in the liver, causing enlargement of the liver (hepatomegaly).
Goldenhar Syndrome (Oculo Auriculo Vertebral Spectrum) : a term that is often used synonymously with "Oculo-Auriculo-Vertebral (OAV) Spectrum," is a
rare disorder that is apparent at birth (congenital). The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range
and severity from case to case. However, such abnormalities tend to involve the cheekbones, jaws, mouth, ears, eyes, and/or bones of the spinal column (vertebrae).
Although, in most cases, such malformations affect one side of the body (unilateral), approximately 10 to 33 percent of affected individuals have such malformations on
both sides of the body (bilateral), with one side typically more affected than the other (asymmetry). In the majority of such cases, the right side is more severely affected
than the left. Again, although Goldenhar Syndrome (OAV Spectrum) is an extremely variable disorder, abnormalities typically affect certain portions of the head and facial
(craniofacial) area and/or bones of the spinal column (vertebrae). Due to craniofacial malformations, an affected individual's face may appear smaller on one side than
the other (hemifacial microsomia); in addition, if both sides are affected (bilateral), the face may appear dissimilar from one side to the other (facial asymmetry).
Craniofacial abnormalities may include underdevelopment of the cheekbones (malar hypoplasia), bones of the upper and lower jaws (maxillary and mandibular
hypoplasia), and the bones forming a portion of the lower skull (temporal hypoplasia); incomplete development of certain muscles of the face; an abnormally wide mouth
(macrostomia); incomplete closure of the roof of the mouth (cleft palate); an abnormal groove in the upper lip (cleft lip); and/or abnormalities of the teeth. Affected
individuals may also exhibit absence (anotia) and/or malformation (microtia) of the outer ears (auricles or pinnae); narrow, blind ending, or absent external ear canals
(atresia); abnormal outgrowths of skin and cartilage on or in front of the ears (preauricular tags); and/or abnormalities affecting the middle and/or inner ears, contributing
to or resulting in hearing impairment (i.e., conductive and/or sensorineural hearing loss). Eye abnormalities may also be present including the formation of cysts on the
eyeballs (epibulbar dermoids and lipodermoids), partial absence of tissue (coloboma) from the upper eyelids, abnormal smallness of the eyes (microphthalmia),
narrowing of the eyelid folds (palpebral fissures) between the upper and lower eyelids (blepharophimosis), crossing of the eyes (strabismus), and/or other eye
abnormalities. Vertebral malformations associated with Goldenhar Syndrome (OAV Spectrum) may include incomplete development (hypoplasia), fusion, and/or absence
of certain vertebrae. In addition, many affected individuals may have additional skeletal, neurological, heart (cardiac), lung (pulmonary), kidney (renal), and/or
gastrointestinal abnormalities. In approximately five to 15 percent of affected individuals, mild mental retardation may also be present. A variety of terms has been used
to describe this extremely variable disorder. According to the medical literature, when malformations primarily involve the jaw, mouth, and ears and, in most cases, affect
one side of the body (unilateral), the disorder is often referred to as "Hemifacial Microsomia." If abnormalities of the vertebrae and the eyes are also present, the disorder
is often called "Goldenhar Syndrome." Within the medical literature, the term "Oculo-Auriculo-Vertebral (OAV) Spectrum" is often used synonymously with Goldenhar
Syndrome and Hemifacial Microsomia. However, due to the complexity and varying severity and expression of the OAV Spectrum, some researchers suggest that
Hemifacial Microsomia and Goldenhar Syndrome actually represent different aspects or levels of severity of OAV Spectrum. In most cases, Goldenhar Syndrome
(OAV Spectrum) appears to occur randomly, with no apparent cause (sporadic). However, in some cases, positive family histories have been present that have
suggested autosomal dominant or recessive inheritance. In addition, some researchers suggest that the disorder may be caused by the interaction of many genes,
possibly in combination with environmental factors (multifactorial inheritance).
Goodman Syndrome (Acrocephalopolysyndactyly Type IV) : an extremely rare genetic disorder characterized by marked malformations of the head and
face, abnormalities of the hands and feet, and congenital heart disease. The syndrome is inherited as an autosomal recessive trait. Some researchers feel that
Goodman Syndrome is a variant of Carpenter Syndrome (Acrocephalopolysyndactyly Type II).
Goodpasture Syndrome ( 肺泡及腎基膜變性 glomerulonephritis associated with hemoptysis ) : a rare autoimmune disorder characterized
by inflammation of the filtering structures (glomeruli) of the kidneys (glomerulonephritis) and excessive bleeding into the lungs (pulmonary hemorrhaging). Autoimmune
syndromes occur when the body's natural defenses (antibodies) against invading or "foreign" organisms begin to attack the body's own tissue, often for unknown
reasons. Symptoms of Goodpasture Syndrome include recurrent episodes of coughing up of blood (hemoptysis), difficulty breathing (dyspnea), fatigue, chest pain,
and/or abnormally low levels of circulating red blood cells (anemia). In many cases, Goodpasture Syndrome may result in an inability of the kidneys to process waste
products from the blood and excrete them in the urine (acute renal failure). In some cases of Goodpasture Syndrome, affected individuals have had an upper respiratory
tract infection before the development of the disorder. The exact cause of Goodpasture Syndrome is not known.
Gordon Syndrome : an extremely rare disorder that belongs to a group of genetic disorders known as the Distal Arthrogryposes. These disorders typically involve
stiffness and impaired mobility of certain joints of the lower arms and legs (distal extremities) including the knees, elbows, wrists, and/or ankles. These joints tend to be
permanently fixed in a bent or flexed position (contractures). Gordon Syndrome is characterized by the permanent fixation of several fingers in a flexed position
(camptodactyly), abnormal bending inward of the foot (clubfoot or talipes), and, less frequently, incomplete closure of the roof of the mouth (cleft palate). In some cases,
additional abnormalities may also be present. The range and severity of symptoms may vary from case to case. Gordon Syndrome is thought to be inherited as an
autosomal dominant genetic trait.
Gorham's Disease : an extremely rare bone disorder characterized by bone loss often associated with swelling or abnormal blood vessel growth (angiomatous
proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bone.
Gorlin Chaudhry Moss Syndrome : an extremely rare inherited disorder characterized by premature closure of the fibrous joints (sutures) between certain bones in
the skull (craniosynostosis), unusually small eyes (microphthalmia), absence of some teeth (hypodontia), and/or excessive amounts of hair (hypertrichosis) on most
areas of the body. Affected individuals may also exhibit a mild delay in physical development (growth retardation); short fingers and/or toes; and/or underdevelopment
(hypoplasia) of the two long folds of skin on either side of the vaginal opening (labia majora) in females. In addition, there may be an abnormal opening between the two
large blood vessels that carry blood away from the heart (pulmonary artery and aorta), causing inappropriate recirculation of some blood through the lungs, rather than
throughout the rest of the body (patent ductus arteriosus). In some cases, mild mental retardation may also be present. It is believed that Gorlin-Chaudhry-Moss
Syndrome may be inherited as an autosomal recessive genetic trait.
Gottron's Syndrome : an extremely rare inherited disorder characterized by premature aging (progeria) and unusually fragile, thin skin due to the absence of fatty tissue
directly under the skin (subcutaneous atrophy). Other findings may include abnormally small hands and feet with thin, delicate, and fragile skin and unusually prominent
veins on the chest; small stature; and/or abnormally small jaw (micrognathia). Gottron� s Syndrome is inherited as an autosomal recessive genetic trait. Approximately 40
cases have been reported in the medical literature.
Gouty Nephropathy, Familial (FGN) : an extremely rare inherited kidney disorder characterized by abnormally reduced elimination (excretion) of uric acid by the
kidneys (renal urate hypoexcretion), increased levels of uric acid in the blood (hyperuricemia), and severe gout unusually early in life. Gout is a condition characterized
by the abnormal accumulation of deposits of uric acid crystals (sodium urate crystals) in one or more joints of the body, particularly the big toe, causing inflammation,
painful swelling, stiffness, and joint pain (gouty arthritis). Individuals with Familial Gouty Nephropathy also experience abnormally increased blood pressure within the
arteries entering the kidneys (renal hypertension) and progressive loss of kidney (renal) function that, without appropriate treatment, may result in life-threatening
complications. Familial Gouty Nephropathy is inherited as an autosomal dominant genetic trait. The disorder has been reported in multiple members of approximately
40 families (kindreds) worldwide. The age of onset and the development of gout and kidney failure vary greatly from family to family. In most cases, Familial Gouty
Nephropathy becomes apparent in affected males during the mid-20s and later in females when severe attacks of gout usually begin to occur.
Graft versus Host Disease (GVHD) : a rare disorder that can strike persons whose immune system is suppressed and have either received a blood transfusion or a
bone marrow transplant. Symptoms may include skin rash, intestinal problems similar to colitis, and liver dysfunction.
Granuloma Annulare 環狀肉芽瘤 : a rare, degenerative skin disorder. The most common form is localized granuloma annulare, which is characterized by the
presence of small, firm red or yellow colored bumps (nodules or papules) that appear arranged in a ring on the skin. In most cases, the sizes of the lesions range from
one to five centimeters. The most commonly affected sites include the feet, hands, and fingers. In addition to the localized form, there are four less common forms:
generalized or disseminated, linear, perforating, and subcutaneous. The lesions associated with granuloma annulare usually disappear without treatment (spontaneous
remission). However, the lesions often reappear. The exact cause of granuloma annulare is unknown.
Granulomatosis, Lymphomatoid 肉芽腫: a rare, progressive, disease of the lymph nodes and blood vessels characterized by infiltration and destruction of the
veins and arteries by nodular lesions created by accumulations of atypical cells of various kinds. These lesions can affect various parts of the body, especially the lungs.
49
 However, the condition may start by affecting the small arteries and eventually the lungs, skin, kidneys and nervous system. In 10% to 15% of the cases the benign
condition becomes malignant in the form of a cancerous growth in the lymph nodes (lymphoma).
Granulomatous Disease, Chronic : a very rare inherited primary immune deficiency disorder that affects certain white blood corpuscles (lymphocytes). It is
characterized by widespread granulomatous tumor-like lesions, and an inability to resist repeated infectious diseases. Life-threatening infections of the skin, lungs, and
bones may occur along with swollen areas of inflamed tissues known as granulomas.
Graves' Disease 凸眼副甲狀腺腫 : a disease affecting the thyroid gland. It is thought to occur as a result of an imbalance in the immune system. This disorder
causes increased thyroid secretion (hyperthyroidism), enlargement of the thyroid gland (goiter) and protrusion of the eyeballs.
Greig Cephalopolysyndactyly Syndrome (GCPS) : a very rare inherited disorder characterized by physical abnormalities affecting the fingers and toes (digits)
and the head and facial (craniofacial) area. Characteristic digital features may include extra (supernumerary) fingers and/or toes (polydactyly), webbing and/or fusion of
the fingers and/or toes (syndactyly), and/or additional abnormalities. Craniofacial malformations associated with this disorder may include a large and/or unusually
shaped skull; a high, prominent forehead (frontal bossing); an abnormally broad nasal bridge; widely spaced eyes (ocular hypertelorism); and/or other physical
abnormalities. The range and severity of symptoms may vary greatly from case to case. In most cases, GCPS is thought to be inherited as an autosomal dominant
genetic trait.
Grover's Disease : a rare temporary skin disorder that consists of small, firm, raised red lesions on the skin. Under a microscope one finds separation of closely
connected cells in the skin's outer layers (acantholysis) that can be identified by a dermatologist. Small blisters containing a watery liquid are present. These blisters tend
to group and have a swollen red border around them. Grover's Disease is mainly seen in males over the age of forty. Its cause is unknown but it is thought to be related
to trauma to sun damaged skin.
Growth Delay, Constitutional : a term describing a temporary delay in the skeletal growth and height of a child with no other physical abnormalities causing the delay.
Short stature may be the result of a growth pattern inherited from a parent (familial) or occur for no apparent reason (sporadic). Typically there is a period during
childhood in which growth slows down, eventually resuming at a normal rate.
Growth Hormone Deficiency : Growth Hormone is manufactured in the pituitary gland. If it is missing or reduced in quantity during infancy or childhood, it results in
growth retardation, short stature and other maturation delays. Growth Hormone Deficiency (GHD) causes an absence or delay of lengthening and widening of the
skeletal bones inappropriate to the chronological age of the child. A sufficient quantity of growth hormone is required during childhood to maintain growth and normalize
sexual maturity. In some cases the onset of the disorder occurs prenatally (before birth), and in others the condition occurs months or years later. Laboratory testing is
necessary before a diagnosis of Growth Hormone Deficiency is made because growth and maturity delays can be caused by a wide variety of other factors, including
normal genetic influences.
Guillain Barre Syndrome 病毒性腦炎 (acute idiopathic polyneuritis) : a very rare, rapidly progressive disorder causing inflammation of the nerves
(polyneuritis) and paralysis. Although the precise cause of Guillain-Barre Syndrome is unknown, a viral or respiratory infection precedes the onset of the syndrome in
about half of the cases. This has led to the theory that Guillain-Barre Syndrome may be an autoimmune disease (caused by the body's own immune system). Damage to
the covering of nerve cells (myelin) and nerve axons (the extension of the nerve cell that conducts impulses away from the nerve cell body) results in delayed nerve
signal transmission. There is a corresponding weakness in the muscles that are supplied with nerve impulses (innervated) by the affected nerves. The following
subdivisions are recognized: Miller-Fischer syndrome (Fischer syndrome, acute disseminated encephalomyeloradiculopathy); chronic Guillain-Barre Syndrome (chronic
idiopathic polyneuritis); relapsing Guillain-Barre Syndrome; chronic inflammatory demyelinating polyradiculoneuropathy; chronic relapsing polyneuropathy;
polyneuropathy; and polyradiculoneuropathy.

H
Hageman Factor Deficiency XII 凝血因子闕陷 : a genetic blood disorder. It is caused by a lack in activity of the Hageman factor in blood plasma, a
single-chain glycoprotein which is also called Factor XII. This factor is needed for blood clotting. However, when it is deficient, other blood clotting factors tend to
compensate for Factor XII. This disorder usually presents no symptoms and is only accidentally discovered through pre-operative blood tests that are required by
hospitals.
Hallermann Streiff syndrome : a rare inherited disorder characterized by distinctive craniofacial abnormalities including an abnormally small head (microcephaly) that
is unusually wide (brachycephaly) with a prominent forehead (frontal bossing); a small, underdeveloped lower jaw (hypoplastic mandible); an unusually small mouth
(microstomia); and/or a characteristic "beak-shaped" nose. The disorder is also characterized by abnormalities of the eyes; malformations of the teeth; short stature
(dwarfism); and/or other abnormalities. Characteristic eye (ocular) abnormalities include unusually small eyes (microphthalmia) and clouding of the lenses of the eyes
that is present at birth (congenital cataracts). Other visual problems may include rapid, involuntary eye movements (nystagmus); crossing of the eyes (strabismus);
and/or decreased visual clarity (visual acuity) or, in some cases, blindness. Dental defects may include the presence of certain teeth at birth (neonatal teeth);
underdevelopment of tooth enamel (enamel hypoplasia); and/or absence (hypodontia or partial adontia), malformation, and/or improper alignment of certain teeth. Most
cases of Hallermann-Streiff syndrome appear to occur randomly for unknown reasons (sporadically) and may be the result of a new change to genetic material
(mutation).
Hallervorden Spatz Disease 哈勒佛登- 史培茲市病；黑質網狀部與旦蒼球變性(運動退化, 情感遲頓) 神經退化症: a rare
neurological movement disorder characterized by the progressive degeneration of the nervous system. Symptoms may vary greatly and include slow writhing and
distorting muscle contractions (dystonia), muscular rigidity, sudden involuntary muscle spasms (spasticity), progressive confusion, disorientation, and/or deterioration of
intellectual abilities (dementia). Hallervorden-Spatz Disease typically develops during childhood, although occasionally the disease may begin during adulthood.
Hand Foot Mouth Syndrome 手足口病(克沙克病毒) : an infectious disease that, in most cases, is caused by the coxsackie virus A16. The disease most
often occurs in young children and is characterized by a rash of small blister-like sores (lesions). The rash usually occurs on the palms of the hands, soles of the feet,
and in the mouth.
Hanhart Syndrome : a rare birth defect that is characterized by a short, incompletely developed tongue (hypoglossia); absent or partially missing fingers and/or toes
(ectrodactylia); malformed arms and/or legs (peromelia); and an extremely small jaw (micrognathia). The severity of these physical abnormalities varies greatly from
case to case. Children with this disorder often have some, but not all, of the symptoms. The cause of Hanhart Syndrome is not fully understood.
Hantavirus Pulmonary Syndrome 漢他病毒: an infectious disease caused by the Muerto Canyon hantavirus. Transmission occurs when direct or indirect
(airborne) contact is made with the saliva or waste products of rodents that carry the virus, most commonly the deer mouse (Peromyscus maniculatus). Initial symptoms
may include fever, muscle aches (myalgias), headache, cough, and/or difficulty breathing. Symptoms progress rapidly, and abnormally low blood pressure (hypotension),
shock, and/or respiratory failure may occur.
Hartnup Disease 哈特那普氏病； 遺傳性糙皮樣皮膚疹 : a rare metabolic disorder inherited as a recessive trait. It involves an inborn error of amino
acid metabolism as well as niacin deficiency. Factors which may precipitate acute attacks of this disorder may include poor nutrition, exposure to sunlight, sulfonamide
medications and/or psychological stress. Hartnup Disease may be marked by skin problems, coordination impairment, vision problems, mild mental retardation,
grastrointestinal problems, and central nervous system abnormalities. Frequency of attacks usually diminish with age.
Hashimoto's Syndrome : a form of chronic autoimmune thyroiditis. It is a progressive disease of the thyroid that will eventually destroy the thyroid gland and cause a
lack of thyroid hormone (hypothyroidism).
Hay Well's Syndrome : one of a group of rare genetic skin disorders known as the Ectodermal Dysplasias. Major characteristics of this disorder include cleft lip and/or
palate, fusion of one or both eyelids together, absent or defective nails, coarse, sparse or wiry hair, diminished ability to sweat, and missing, widely spaced, or
cone-shaped teeth. Hay-Well's Syndrome is inherited as a autosomal dominant trait.
Headache, Cluster : a rare form of severe disabling headache. The headaches are deep, non-throbbing, extremely painful ones that tend to recur in the same area of the
head or face with each occurrence. They usually come on during sleep and may awaken an affected individual. In some cases, cluster headaches occur during the day
as well. Cluster headaches tend to occur on and off daily for several weeks only to disappear for months or, in some cases, years. They typically last somewhere
between 30 minutes and two hours. Cluster headaches are often associated with watering of the eyes and nose. Chronic paroxysmal hemicrania and episodic
50
 paroxysmal hemicrania are variants of cluster headaches. Both forms closely resemble cluster headaches except for a few distinctive features, particularly their
response to different treatment options.
Heart Block, Congenital 心臟傳導異常: is characterized by interference with the transfer of electrical nerve impulses (conduction) that regulate the normal
rhythmic pumping activity of the heart muscle (heart block). The severity of such conduction abnormalities may vary among affected individuals. The normal heart has
four chambers. The two upper chambers are known as the atria and the two lower chambers are known as the ventricles. In the mild form of heart block (First Degree),
the two upper chambers of the heart (atria) beat normally, but the contractions of the two lower chambers (ventricles) slightly lag behind. In the more severe forms
(Second Degree), only a half to a quarter of the atrial beats are conducted to the ventricles. In complete heart block (Third Degree), the atria and ventricles beat
independently. In most cases, infants with First or Second Degree experience no symptoms (asymptomatic). However, infants with complete heart block may experience
episodes of unconsciousness (syncope), breathlessness, and/or fatigue.
Heavy Metal Poisoning 重金屬中毒 (Aluminum, Antimony, Arsenic , Cadmium , Chromium , Cobalt, Copper, Lead , Lithium , Manganese , Mercury, Silver , Zinc ,
Barium, Bismuth , Gold , Iron , Selenium, Phosphorous, Platinum, Tin , Nickel, Thallium Poisoning ) : Heavy metal poisoning results from an overexposure to various
types of metals. Symptoms and physical findings associated with heavy metal poisoning vary according to which type of metal overexposure is involved. Heavy metal
poisoning may occur from industrial exposure, from air or water pollution, or from foods, medicines or improperly coated food containers. Occasionally hemodialysis
(filtering of the blood mechanically to treat severe kidney failure) may be a cause.
Hemangioma Thrombocytopenia Syndrome (also known as Kasabach-Merritt Syndrome) : a rare disorder characterized by an abnormal blood
condition in which the low number of blood platelets causes bleeding (thrombocytopenia). The thrombocytopenia is found in association with a benign tumor consisting
of large, blood-filled spaces (cavernous hemangioma). The exact cause of this disorder is not known.
Hematuria, Benign, Familial : also known as Thin-Basement-Membrane Nephropathy, is a nonprogressive genetic kidney disease that usually begins during childhood.
The disorder is characterized by the presence of red blood cells in the urine (hematuria). The blood in the urine may be present in microscopic amounts (microscopic
hematuria) and not visible to the eye, present in small amounts that give the urine a "cloudy" or "smoky" appearance, or easily visible. Many individuals with the disorder
have abnormalities of the kidney� s glomeruli, the clusters of small blood vessels (capillaries) that normally filter the blood passing through the kidneys (glomeruli
filtration). In such cases, the membrane (basement membrane) supporting the loops of capillaries that make up the renal glomeruli may be abnormally thin. Benign
Familial Hematuria may be inherited as an autosomal dominant genetic trait.
Hemochromatosis 青銅色糖尿病, Hereditary: (HH) is a genetic disorder of iron storage characterized by excessive intestinal absorption of dietary iron.
Increased iron absorption leads to excessive accumulation of iron deposits within cells of the liver, heart, pituitary gland, pancreas, and other organs, gradually causing
tissue damage and impaired functioning of affected organs. Hereditary Hemochromatosis is considered one of the most common genetic disorders in Caucasians.
However, many investigators indicate that the condition often remains undetected and therefore is underdiagnosed. Hereditary Hemochromatosis is transmitted as an
autosomal recessive trait. It is caused by changes (mutations) of a gene known as HFE located on the short arm (p) of chromosome 6 (6p21.3). Several different
mutations of this gene have been identified that may contribute to the development of Hereditary Hemochromatosis. Associated symptoms and findings may become
apparent in individuals who inherit two mutated copies of the HFE gene (homozygous). However, in other cases, individuals with two mutated HFE genes may not
manifest symptoms (variable penetrance and expressivity). In contrast, some who inherit only one mutated copy of the HFE gene (heterozygous carriers) may have
symptoms and findings associated with Hereditary Hemochromatosis. In such cases, the disease may be "triggered" in genetically predisposed individuals due to a
number of precipitating factors, such as inflammation of the liver (hepatitis) or alcoholism. In addition, investigators suggest that mutations of other genes may have
some role in causing the disorder or modifying its expression (genetic heterogeneity).
Hemoglobinuria, Paroxysmal Cold : a very rare autoimmune hemolytic disorder characterized by the premature destruction of healthy red blood cells minutes to
hours after exposure to cold. Autoimmune diseases occur when the body's natural defenses against invading organisms (e.g., lymphocytes, antibodies) destroy healthy
tissue for unknown reasons. Normally, red blood cells have a life span of approximately 120 days before they are removed by the spleen. In an individual affected with
Paroxysmal Cold Hemoglobinuria, the red blood cells are destroyed prematurely and suddenly (paroxysmally) upon exposure to temperatures of 10 to 15 degrees
Centigrade and below.
Hemoglobinuria, Paroxysmal Nocturnal : a decrease of red blood cells (anemia) caused by a defect in the membrane of the red blood cells. It is characterized by
the presence of blood (hemoglobin) in the urine (hemoglobinuria) and plasma (hemoglobinemia) which occurs chiefly at night due to breakdown of red blood cells.
Hemolytic Uremic Syndrome: (HUS) is a very rare disorder that primarily affects young children between the ages of one to 10 years, particularly those under the
age of four years. In many cases, the onset of HUS is preceded by a flu-like illness (gastroenteritis) characterized by vomiting, abdominal pain, fever, and diarrhea,
which, in some cases, may be bloody. Symptoms of Hemolytic-Uremic Syndrome usually become apparent three to 10 days after the development of gastroenteritis and
may include sudden paleness (pallor), irritability, weakness, lack of energy (lethargy), and/or excretion of abnormally diminished amounts of urine (oliguria). The disease
typically progresses to include inability of the kidneys to process waste products from the blood and excrete them into the urine (acute renal failure); a decrease in
circulating red blood cells (microangiopathic hemolytic anemia); a decrease in circulating blood platelets, which assist in blood clotting functions (thrombocytopenia); and
the abnormal accumulation of platelets within certain blood vessels (microthrombi), reducing the blood flow to several organs (e.g., kidneys, pancreas, brain) potentially
leading to multiple organ dysfunction or failure. In some cases, neurological problems may be present at the onset of Hemolytic-Uremic Syndrome or may occur at any
time during the disorder's progression. Neurological symptoms may include dizziness, seizures (partial or generalized), disorientation or confusion, and/or loss of
consciousness (coma). The onset of Hemolytic-Uremic Syndrome is most frequently associated with infection by a particular strain (O157:H7) of Escherichia coli (E. coli)
bacterium. Occasionally, adults may be affected by Hemolytic-Uremic Syndrome.
Hemophilia 血友病 : a rare inherited blood clotting (coagulation) disorder caused by inactive or deficient blood proteins (usually factor VIII). Factor VIII is one of several
proteins that enable the blood to clot. Hemophilia may be classified as mild, moderate, or severe. The level of severity is determined by the percentage of active clotting
factor in the blood (normal percentage ranges from 50 to 150 percent). People who have severe hemophilia have less than one percent of active clotting factor in their
blood. There are three major types of Hemophilia: Hemophilia A (A 型血友病 also known as classical hemophilia, Factor VIII deficiency or antihemophilic globulin
[AHG] deficiency); Hemophilia B (B 型血友病 Christmas disease or factor IX deficiency); and Hemophilia C (C 型血友病 factor XI deficiency). Hemophilia A and
B are inherited as X-linked recessive genetic traits, while Hemophilia C is inherited as an autosomal recessive genetic trait. Therefore, while Hemophilia A and B are fully
expressed in males only, Hemophilia C affects males and females in equal numbers.
Hemorrhagic Telangiectasia, Hereditary(HHT or Osler-Weber-Rendu Syndrome) : a hereditary disorder characterized by blood vessel lesions
(telangiectases) on the skin, mucous membranes and in many internal organs. Often, affected individuals exhibit signs of a low level of iron in the red blood cells
(anemia) caused by bleeding of the telangiectases. HHT is inherited as an autosomal dominant trait.
Hepatic Fibrosis, Congenital 先天性肝細胞纖維化 : a rare disease that affects both the liver and kidneys. The patient is born with this disorder (congenital)
and it is thought to be inherited as an autosomal recessive trait. The typical liver abnormalities are an enlarged liver (hepatomegaly), increased pressure in the venous
system that carries blood from different organs to the liver (portal hypertension), and fiberlike connective tissue that spreads over the liver (hepatic fibrosis). Many
patients with Congenital Hepatic Fibrosis also have polycystic kidney disease, which is characterized by cysts in the kidneys. Bleeding from the gastrointestinal area
(stomach and intestines) is the main clinical problem in patients with Congenital Hepatic Fibrosis.
Hepatitis B B 型肝炎: Hepatitis B Virus (HBV) is one of three viral agents which cause inflammation of the liver known as "hepatitis" or "diffuse hepatocellular
inflammatory disease." Hepatitis B is characterized by fever, nausea, vomiting and yellow discoloration of the skin (jaundice). In its most serious form Hepatitis B can
become a chronic infection, or may cause liver cancer if left untreated. The hepatitis B virus can be passed from mother to unborn child, and is highly contagious through
bodily fluids such as blood, semen and possibly saliva. It is often spread from person to person through intravenous drug use.
Hepatitis C C 型肝炎: an infectious liver disease caused by hepatitis C virus (HCV) infection. The main causes of the spread of this disease are transfusion with
contaminated blood or the sharing of contaminated intravenous needles. More rarely, transmission may occur due to sexual contact with an infected individual or
occupational exposure to contaminated blood. Associated symptoms, which may range from mild to severe, may include fever, fatigue, weakness, abdominal pain,
nausea, vomiting, and yellowish discoloration of the skin, mucous membranes, and whites of the eyes (jaundice). In some cases, affected individuals may develop
chronic liver disease, such as scarring (fibrosis) and impaired functioning of the liver (cirrhosis) or liver cancer (e.g., hepatocellular carcinoma).

51
Hepatitis, Neonatal 新生兒黃疸: also known as Giant Cell Hepatitis, is a liver disease of infancy. It is the most common cause of interrupted bile flow from the liver
(cholestasis) in newborns. Bile is secreted by the liver and flows through the bile ducts into the small intestine. Bile aids in the digestion of fats. The symptoms of
Neonatal Hepatitis may include an abnormal yellow discoloration of the skin (jaundice), pale stools, and/or dark urine. The exact cause of Neonatal Hepatitis is not fully
understood. Most cases occur for no apparent reason (sporadic). However, some cases of Neonatal Hepatitis may be inherited as an autosomal recessive genetic trait.
Hepatorenal Syndrome 肝腎徵候群: includes two types of progressive, kidney (renal) failure which are the result of severe LIVER disease: NOT of primary
KIDNEY dysfunction. In each case, symptoms such as yellowing of the skin (jaundice) and urination problems occur in the two types of this liver disease. The blood
circulation of Hepatorenal Syndrome patients has unique features. The volume of blood circulated by the heart, (cardiac output), is above normal. The arteries that
circulate oxygenated blood from the lungs to the rest of the body (systemic circulation) widen in contrast to the arteries of the kidney, which narrow causing a decrease in
the blood flow through the kidney.
Hereditary spastic paraplegia (HSP, familial spastic paralysis ): refers to a group of genetic disorders that are characterized by progressive weakness and
spasticity (stiffness) of the legs. Symptoms of HSP may occur alone or, in more complicated forms of HSP, may occur in combination with a number of other neurological
symptoms. Generally, the primary feature is severe, progressive, lower extremity spasticity. The spasticity sometimes occurs with abnormalities such as optic neuropathy,
retinopathy (disease of the retina), dementia, ataxia (lack of muscle control), ichthyosis (a skin disorder causing dry, rough, scaly skin), mental retardation, and deafness.
There is no specific treatment to prevent, slow, or reverse HSP?s progressive disability. Treatment is symptomatic.
Figlewicz DA, Bird TD. Pure hereditary spastic paraplegias: the story becomes complicated. Neurology. 1999 Jul 13;53(1):5-7
Fink JK. Advances in hereditary spastic paraplegia Current Opinion in Neurology. 1997 Aug;10(4):313-8
Harding, A. Hereditary Spastic Paraplegias Seminars in Neurology, 13:4; 333-336 (December 1993)
Reid E. The hereditary spastic paraplegias Journal of Neurology. 1999 Nov;246(11):995-1003
Hermansky Pudlak Syndrome : a rare, hereditary disorder that consists of four characteristics: lack of skin pigmentation (albinism), blood platelet dysfunction with
prolonged bleeding, visual impairment, and abnormal storage of a fatty-like substance (ceroid lipofuscin) in various tissues of the body.
Hermaphroditism, true 半陰陽人 : a very rare genetic disorder in which an infant is born with the internal reproductive organs (gonads) of both sexes (i.e., female
ovaries and male testes). The external sex organs of an affected individual are usually a combination of male and female.
Herpes, Neonatal 新生兒皰疹: a very rare disorder affecting newborn infants infected with the Herpes simplex virus (HSV), also called Herpesvirus hominis. This
disorder can vary from mild to severe. In most cases the disorder is transferred by a parent with oral or genital herpes to an offspring before, during, or shortly after birth.
In the mild form, Neonatal Herpes is caused by type 2 virus. The skin, eyes, and mouth may become infected, and symptoms may recur for some time. In its severe form,
which is caused by type 1 virus, Neonatal Herpes is a serious disease characterized by blistery (vesicular) red lesions of the skin and mucous membranes. Liver, spleen,
lungs, brain, kidneys, and adrenal glands may also become infected.
Herpes zoster oticus ( Ramsay Hunt syndrome type I )帶狀(水痘)皰疹 : a common complication of shingles. Shingles is an infection caused by the
varicella-zoster virus, which is the virus that causes chickenpox. Shingles occurs in people who have had chickenpox and represents a reactivation of the dormant
varicella-zoster virus. Ramsay Hunt syndrome type I, which is caused by the spread of the varicella-zoster virus to facial nerves, is characterized by intense ear pain, a
rash around the ear, mouth, face, neck, and scalp, and paralysis of facial nerves. Other symptoms may include hearing loss, vertigo (abnormal sensation of movement),
and tinnitus (abnormal sounds). Taste loss in the tongue and dry mouth and eyes may also occur.
Some cases of Ramsay Hunt syndrome type I do not require treatment. When treatment is needed, medications such as antiviral drugs or corticosteroids may be
prescribed. Vertigo may be treated with the drug diazepam.
Berkow, R (ed). The Merck Manual of Diagnosis and Therapy: General Medicine vol. I, 16th edition, Merck & Co., Inc., Rahway, NJ, p. 171 (1992)
Berkow, R (ed).The Merck Manual of Diagnosis and Therapy: Specialties vol. II, 16th edition, Merck & Co., Inc., Rahway, NJ, p. 850 (1992)
Bradley, W, et al (eds). Neurology in Clinical Practice: The Neurological Disorders vol. II, 2nd edition, Butterworth-Heinemann, Boston, p. 1717 (1996)
Magalini, S, et al (eds). Dictionary of Medical Syndromes 4th edition, J.B. Lippincott Co., Philadelphia, pp. 388-389 (1997)
Mueke, M, and Amedee, R. Herpes Zoster Oticus: Diagnosis and Management Journal of the Louisiana State Medical Society, 145:8; 333-335(August 1993)
Uri, N, et al. Herpes Zoster Oticus: Treatment With Acyclovir Annals of Otology, Rhinology, and Laryngology, 101; 161-162 (1992)
Wayman, D, et al. Audiological Manifestations of Ramsay Hunt Syndrome Journal of Laryngology and Otology, 104; 104-108 (1990)
Hers Disease 赫爾斯氏病( 肝醣貯積症第六型 ) : a hereditary glycogen storage disease (GSD) that usually has milder symptoms than most other types
and is caused by a deficiency of the enzyme, liver phosphorylase. Hers Disease is characterized by enlargement of the liver (hepatomegaly), moderately low blood
sugar (hypoglycemia), elevated levels of acetone and other ketone bodies in the blood (ketosis), and moderate growth retardation. Symptoms are not always evident
during childhood, and children are usually able to lead normal lives. However, In some instances, symptoms may be severe.
Hiccups, Chronic 長期打呃: last for hours or days, or they recur very often with only a few hours relief between spasms. The persistence of hiccups may indicate a
serious illness. Some of the illnesses that include persistent hiccups as a symptom are: pleurisy of the diaphragm, pneumonia, uremia, alcoholism, disorders of the
stomach or esophagus, and bowel diseases. Hiccups may also be associated with pancreatitis, pregnancy, bladder irritation, liver cancer or hepatitis. Surgery, tumors,
and lesions may also cause persistent hiccups.
Hidradenitis Suppurativa 化膿性汗腺炎: a chronic, pus-producing (suppurative), scarring (cicatricial) disease of certain sweat glands (apocrine glands),
particularly those under the arms (axillae) or within the anal/genital (anogenital) region. In individuals with the disorder, obstruction of apocrine glands results in the
development of reddish, tender, pus-containing pockets of infection (abscesses) that may eventually rupture through the skin. Healing of affected areas is typically
associated with progressive scarring (fibrosis). The specific underlying cause of Hidradenitis Suppurativa is unknown.
Hirschsprung's Disease: a rare disorder of the colon. A person may be born with it (congenital) or it may be acquired later in life. In congenital Hirschsprung's Disease
major symptoms may include constipation, distention of the bowel and vomiting. The disease may be apparent at birth, may not be diagnosed until later in infancy, or
may not become apparent until later in childhood. Acquired Hirschsprung's Disease develops later in life when the entire rectum and colon appear unusually wide
(dilated). In this form of the disorder it is usually associated with diseases such as Parkinson's disease, scleroderma, intestinal pseudo-obstruction, Chagas' disease,
amyloidosis, and drug-induced or idiopathic (cause unknown) constipation.
Histidinemia 組胺酸血症 : a rare hereditary metabolic disorder characterized by a deficiency of the enzyme histidase, which is necessary for the metabolism of the
amino acid histidine. The concentration of histidine is elevated in the blood. Excessive amounts of histidine, imidazole pyruvic acid, and other imidazole metabolism
products are excreted in the urine. Mental retardation and a speech defect have been found in some cases of Histidinemia, while in other cases, no obvious symptoms
appear to indicate that a person may have this disorder (asymptomatic).
Histiocytosis X 組織細胞增生: a term formerly given to three blood disorders that share basic characteristics and a common origin. As a result of better
understanding of this childhood illness, the term Langerhans Cell Histiocytosis (LCH) is now often applied. This group of disorders develop similarly although symptoms
vary widely between cases. The most common feature is the abnormal accumulation of a specific type of tissue cell (histiocytes) in various organs. The type of damage
caused by accumulations depends on the size and location of the "growth." Bones, skin, the liver, spleen, lungs and brain are most commonly affected. The growths are
not cancerous despite the aggressive clinical course and therapies resembling those used for cancer patients. Most cases are sporadic (non-familial). Although more
than one case has appeared in the same family, no clear inheritance pattern has been identified.
Hodgkin's Disease 進行性淋巴組織腫大 : a form of cancer of the lymphatic system, especially the lymph nodes. Tumors occur in the lymph nodes (places
where lymphatic vessels unite) and/or the area around the nodes. Fever, night sweats, and weight loss may occur along with swollen lymph nodes.
Holoprosencephaly 胚胎原腦全裂: a disorder caused by the failure of the prosencephalon (the forebrain of the embryo) to divide to form bilateral cerebral
hemispheres, causing defects in the development of the face and in brain structure and function. Once called arhinencephaly, the disorder consists of a spectrum of
defects or malformations of the brain and face. Most cases are associated with severe malformations of the brain which are incompatible with life and often cause
spontaneous intrauterine death. At the other end of the spectrum are individuals with facial defects -- which may affect the eyes, nose, and upper lip .This causes defects
in the development of the middle of the face and in brain structure and function. Closely set eyes (hypotelorism), missing front teeth (incisors), and an abnormally small
head (microcephaly) may occur. Rarely, severely affected infants are born with cyclopia (the eyes fused into one) and a deformed or absent nose.-- and normal or
52
 near-normal brain development. Seizures and mental retardation may occur. The most severe of the facial anomalies is cyclopia, an abnormality characterized by a
single eye, located in the area normally occupied by the root of the nose, and a missing nose or a nose in the form of a proboscis (a tubular appendage), located above
the eye. Ethmocephaly is the least common facial anomaly. It consists of a proboscis separating narrow-set eyes with an absent nose and microphthalmia (abnormal
smallness of one or both eyes). Cebocephaly, another facial anomaly, is characterized by a small, flattened nose with a single nostril situated below incomplete or
underdeveloped closely set eyes. The least severe in the spectrum of facial anomalies is the median cleft lip also called premaxillary agenesis. There are three
classifications of holoprosencephaly. Alobar, the most serious form in which the brain has no tendency to separate, is usually associated with severe facial anomalies.
Semilobar, in which the brain's hemispheres have a slight tendency to separate, is an intermediate form of the disease. Lobar, in which there is considerable evidence of
separate brain hemispheres, is the least severe form. In some cases of lobar holoprosencephaly the patient's brain may be nearly normal.
There is no standard course of treatment for holoprosencephaly. Treatment is symptomatic and supportive.
Bradley, W, et al (eds). Neurology in Clinical Practice: The Neurological Disorders. vol. II, 2nd edition, Butterworth-Heinemann, Boston, pp. 1474-1475 (1996).
Elias, D, Kawamoto, H, and Wilson, L. Holoprosencephaly and Midline Facial Anomalies: Redefining Classification and Management. Plastic and Reconstructive
Surgery, 90:6; 951-958 (December 1992).
Delezoide, A, Narcy, F, and Larroche, J. Cerebral Midline Developmental Anomalies: Spectrum and Associated Features. Genetic Counseling, 1:3-4; 197-210 (1990).
Holt Oram Syndrome(HOS) : a rare genetic disorder characterized by distinctive malformations of the bones of the thumbs and forearms (upper limbs) and/or
abnormalities of the heart. The symptoms and physical findings associated with Holt-Oram Syndrome may vary greatly from case to case. In many infants with the
disorder, the thumbs may be absent or underdeveloped (hypoplastic) or have an extra bone (triphalangy). Affected infants may also have additional upper limb
malformations such as underdevelopment (hypoplasia) of or extra bones in the wrists (e.g., scaphoid bone); malformations of certain bones of the hands
(metacarpals); and/or underdevelopment of the bones of the forearms (radius and ulna) and/or the bones of the upper arms (humerus). The shoulder blades
(scapulae), the collarbones (clavicles), and/or other bones may also be abnormal. In most cases, infants with Holt-Oram Syndrome have heart (cardiac)
abnormalities that may include structural (anatomical) malformations of the heart and/or abnormal transmission of electrical impulses (signals) that coordinate the
heart's muscular contractions (electrocardiographic conduction defects). In individuals with the disorder, atrial and/or ventricular septal defects (ASDs and/or VSDs)
are the most common structural heart defects. ASDs are characterized by an abnormal opening in the fibrous partition (septum) that separates the two upper
chambers (atria) of the heart. VSDs are characterized by an abnormal opening in the septum that divides the heart's two lower chambers (ventricles). Individuals with
Holt-Oram Syndrome may have electrocardiographic conduction defects as a separate finding or in association with structural abnormalities of the heart (e.g., ASDs
and/or VSDs). In many affected individuals with conduction defects, there may be an interruption of the normal flow of electrical impulses (heart block) through the
heart. Depending upon the nature and combination of structural heart defects and/or conduction abnormalities, the effects of such defects are highly variable, ranging
from no apparent symptoms (asymptomatic) in some affected individuals to serious, potentially life-threatening complications in others. Holt-Oram Syndrome is an
autosomal dominant disorder. In approximately 60 percent of cases, Holt-Oram Syndrome is inherited from an affected parent. In about 40 percent of cases, the
disorder is the result of a spontaneous (i.e., de novo) genetic change (i.e., new mutation).
Homocystinuria 類胱氨酸尿症: a rare metabolic condition characterized by an excess of the compound homocystine in the urine. The condition may result from
deficiency of any of several enzymes involved in the conversion of the essential amino acid methionine to another amino acid (cysteine)--or, less commonly, impaired
conversion of the compound homocysteine to methionine. Enzymes are proteins that accelerate the rate of chemical reactions in the body. Certain amino acids, which
are the chemical building blocks of proteins, are essential for proper growth and development. In most cases, Homocystinuria is caused by reduced activity of an
enzyme known as cystathionine beta-synthase (CBS). Due to deficiency of the CBS enzyme, infants with Homocystinuria may fail to grow and gain weight at the
expected rate (failure to thrive) and have developmental delays. By approximately age three, additional, more specific symptoms and findings may become apparent.
These may include partial dislocation (subluxation) of the lens of the eyes (ectopia lentis), associated "quivering" (iridodonesis) of the colored region of the eyes (iris),
severe nearsightedness (myopia), and other eye (ocular) abnormalities. Although intelligence may be normal in some cases, many children may be affected by
progressive mental retardation. In addition, some may develop psychiatric disturbances and/or episodes of uncontrolled electrical activity in the brain (seizures). Affected
individuals also tend to be thin with unusually tall stature; long, slender fingers and toes (arachnodactyly); and elongated arms and legs ("marfanoid" features). Additional
skeletal abnormalities may include progressive sideways curvature of the spine (scoliosis), abnormal protrusion or depression of the breastbone (pectus carinatum or
excavatum), and generalized loss of bone density (osteoporosis). In addition, in those with the disorder, blood clots may tend to develop or become lodged within certain
large and small blood vessels (thromboembolisms), potentially leading to life-threatening complications. Homocystinuria due to deficiency of cystathionine synthase is
inherited as an autosomal recessive trait. The disorder results from changes (mutations) of a gene on the long arm (q) of chromosome 21 (21q22.3) that regulates the
production of the CBS enzyme.
Horner's Syndrome : a rare disorder that consists of extreme contraction of the pupil of the eye (miosis), drooping of the upper eyelid (ptosis), absence of sweating of
the face (anhidrosis), and sinking of the eyeball into the bony cavity that protects the eye (enophthalmos). The exact cause of Horner� s Syndrome is not known.
Human Granulocytic Ehrlichiosis (HGE) : (HGE) is a rare infectious disease that belongs to a group of diseases known as the Human Ehrlichioses. The
Ehrlichioses are infectious diseases caused by bacteria in the "Ehrlichia" family. Several forms of Human Ehrlichial infection have been identified including Human
Granulocytic Ehrlichiosis (HGE), Sennetsu Fever, and Human Monocytic Ehrlichiosis (HME). Though caused by different strains of Ehrlichia bacteria, the disorders are
all characterized by similar symptoms. The symptoms of Human Granulocytic Ehrlichiosis (HGE) may include a sudden high fever, headache, muscle aches (myalgia),
chills, and a general feeling of weakness and fatigue (malaise) within a week or so after initial infection. In most cases, abnormal laboratory findings may occur including
an abnormally low number of circulating blood platelets (thrombocytopenia), a decrease in white blood cells (leukopenia), and an abnormal increase in the level of
certain liver enzymes (hepatic transaminases). In some cases, symptoms may progress to include nausea, vomiting, cough, diarrhea, loss of appetite (anorexia), and/or
confusion. If Human Granulocytic Ehrlichiosis is left untreated, life-threatening symptoms, such as kidney failure and/or respiratory problems, may develop in some
cases. Human Granulocytic Ehrlichiosis is caused by a bacterium of the Ehrlichiosis family that has not yet been named. The Ehrlichial bacterium is carried and
transmitted by certain ticks (vectors), such as the deer tick (Ixodes dammini) and the American dog tick (Dermacentor variabilis).
Human Monocytic Ehrlichiosis (HME) : a rare infectious disease belonging to a group of diseases known as the Human Ehrlichioses. These diseases are caused
by bacteria belonging to the "Ehrlichia" family. Several forms of Human Ehrlichioses have been identified, including Human Monocytic Ehrlichiosis, Sennetsu Fever, and
Human Granulocytic Ehrlichiosis. Though caused by different strains of Ehrlichia bacteria, the disorders are characterized by similar symptoms. The symptoms of
Human Monocytic Ehrlichiosis may include a sudden high fever, headache, muscle aches (myalgia), chills, and a general feeling of weakness and fatigue (malaise)
within a few weeks after initial infection. In addition, in many cases, laboratory findings may indicate an abnormally low number of circulating blood platelets
(thrombocytopenia), a decrease in white blood cells (leukopenia), and an abnormal increase in the level of certain liver enzymes (hepatic transaminases). In some
individuals, symptoms may progress to include nausea, vomiting, diarrhea, weight loss, and/or confusion. If HME is left untreated, life-threatening symptoms, such as
kidney failure and respiratory insufficiency, may develop in some cases. Human Monocytic Ehrlichiosis is caused by the bacteria Ehrlichia chaffeensis (or E. chaffeensis).
E. chaffeensis is carried and transmitted by certain ticks (vectors), such as the Lone Star tick (Amblyomma americanum) and the American dog tick (Dermacentor
variabilis).
Hunter Syndrome 韓特氏病( 黏多醣症第二型): also known as mucopolysaccharidosis II, is a rare inborn error of metabolism characterized by deficiency
of an enzyme known as iduronate sulfatase. The mucopolysaccharidoses (MPS) are a group of hereditary metabolic diseases known as lysosomal storage disorders.
Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients, such as certain carbohydrates and
fats. In individuals with MPS disorders, including Hunter syndrome, deficiency or improper functioning of lysosomal enzymes leads to an abnormal accumulation of
certain complex carbohydrates (glycosaminoglycans [mucopolysaccharides]) in cells within various bodily tissues, such as the skeleton, joints, brain, spinal cord, heart,
spleen, or liver. Initial symptoms and findings associated with Hunter syndrome usually become apparent between age two to four years. Such abnormalities may
include progressive growth delays, resulting in short stature; joint stiffness, with associated restriction of movements; and coarsening of facial features, including
thickening of the lips, tongue, and nostrils. Affected children may also have an abnormally large head (macrocephaly), a short neck and broad chest, delayed tooth
eruption, progressive hearing loss, and enlargement of the liver and spleen (hepatosplenomegaly). Two relatively distinct clinical forms of Hunter syndrome have been
recognized. In the mild form of the disease (MPS IIB), intelligence may be normal or only slightly impaired. However, in the more severe form (MPS IIA), profound mental
retardation may be apparent by late childhood. In addition, slower disease progression tends to occur in those with the mild form of the disorder. Hunter syndrome is
inherited as an X-linked recessive trait. Mild and severe forms of the disorder result from changes (mutations) of a gene (i.e., IDS gene) that regulates production of the
iduronate sulfatase enzyme. The IDS gene is located on the long arm (q) of chromosome X (Xq28).

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Huntington's Disease 亨廷頓氏慢性舞蹈症 : a genetic, progressive, neurodegenerative disorder characterized by the gradual development of involuntary
muscle movements affecting the hands, feet, face, and trunk and progressive deterioration of cognitive processes and memory (dementia). Neurologic movement
abnormalities may include uncontrolled, irregular, rapid, jerky movements (chorea) and athetosis, a condition characterized by relatively slow, writhing involuntary
movements. Dementia is typically associated with progressive disorientation and confusion, personality disintegration, impairment of memory control, restlessness,
agitation, and other symptoms and findings. In individuals with the disorder, disease duration may range from approximately 10 years up to 25 years or more.
Life-threatening complications may result from pneumonia or other infections, injuries related to falls, or other associated developments. Huntington's Disease is
transmitted as an autosomal dominant ( 體染色體顯性)trait. HD is a familial disease, passed from parent to child through a mutation in the normal gene. Each child of
an HD parent has a 50-50 chance of inheriting the HD gene. If a child does not inherit the HD gene, he or she will not develop the disease and cannot pass it to
subsequent generations. A person who inherits the HD gene will sooner or later develop the disease. Whether one child inherits the gene has no bearing on whether
others will or will not inherit the gene. As the disease progresses, concentration on intellectual tasks becomes increasingly difficult and the patient may have difficulty
feeding himself or herself and swallowing. The rate of disease progression and the age of onset vary from person to person. A genetic test, coupled with a complete
medical history and neurological and laboratory tests, help physician's diagnose HD. Presymptomic testing is available for individuals who are at risk for carrying the HD
gene. In 1 to 3 percent of individuals with HD, no family history of HD can be found.The disease results from changes (mutations) of a gene known as "huntingtin"
located on the short arm (p) of chromosome 4 (4p16.3). In those with the disorder, the huntingtin gene contains errors in the coded "building blocks" (nucleotide bases)
that make up the gene's instructions. The gene contains abnormally long repeats of coded instructions consisting of the basic chemicals cytosine, adenine, and guanine
(CAG trinucleotide repeat expansion). The length of the expanded repeats may affect the age at symptom onset. The specific symptoms and physical features
associated with Huntington's Disease result from degeneration of nerve cells (neurons) within certain areas of the brain (e.g., basal ganglia, cerebral cortex). The
Dopamine receptor density is decreased in striatum, however the basal dopamine concentration is still in normal or hyperactivity state.
Physicians prescribe a number of medications to help control emotional and movement problems associated with HD. Most drugs used to treat the symptoms of HD
have side effects such as fatigue, restlessness, or hyperexcitability. It is extremely important for people with HD to maintain physical fitness as much as possible, as
individuals who exercise and keep active tend to do better than those who do not.
亨丁頓氏舞蹈症是西元一八七二年美國紐約的亨丁頓醫生最先注意到之特殊遺傳疾病. 病人通常在中年後才開始發病, 病症特色是患者鎮日全
身無法自主的做出種種不規則性之急速舞動或顫抖抽蓄, 病人發病歷程緩慢但絕對日趨嚴重, 所有病人在疾病末期都瘦得不成人形. 曾有一位
患者的女兒名為南施魏克斯樂者對他母親患病末期而漸進死亡的過程做出如下令人鼻酸的生動描述: 她說, 我那舉止優雅的母親, 一向穿著剪
裁合身的五號服裝, 對她來說一個人的衛生等同於他個人的人格,如今我母親換穿免燙快乾之棉布衣, 而每餐飯後其布衣都被潑灑出來的食物濺
得溼透, 由於她那永遠停不下來的動作, 新鞋在你剛幫她換上時就已報銷 ........不論你將她坐的椅子移到何處,她身體不斷的顫動, 總是將椅子
推向牆壁, 直到她的頭猛撞石灰牆為止. 她的後腦勺由於不斷撞牆而留下血淋淋的傷痕, 然而你卻又無法將她的椅子靜止下來或擺放到較安全
之地點........ 疾病末期, 她看起就像是一個犯人, 骨瘦如柴, 如果側臥於床上, 你簡直就無法看見她........
亨丁頓氏舞蹈症由於染患之家族數目遠比其他遺傳疾病來的少, 鮮少人感興趣對它作研究. 故在亨丁頓醫生發現此病後一世紀人們除了知道它
是個顯性遺傳疾病外,對其致病原因卻全然不知, 而在醫學界對此病又束手無策之下, 病人只能顫盡所有氣息直至生命結束的那一霎那. 一九六
八年美國著名的心理分析醫師米爾敦魏克斯樂 (即前述南施之父親) 在發現南施之生母罹患亨丁頓氏舞蹈症時, 由於擔心兩個女兒各有百分之
五十之患病機率而積極募款並鼓動南施及當時數位有名之遺傳及分子生物學家投入此疾病之研究工作. 皇天不負苦心人, 科學家們於一九八三
年首次利用特殊遺傳標定技術而找出此病之早期診斷方法, 更於十年後將亨丁頓氏舞蹈症之致病遺傳因子 ( 簡稱 HD 基因 ) 由病人身上選殖
出來. 雖然此致病基因在人體所扮演之功能仍不清楚, 但科學家們發現病人的 HD 基因在有一處製造稱為多膠氨 (polyglutamine) 的部份明顯的
比正常人重複加長許多. 此外具有越長的多膠氨片段之病人其發病年紀亦愈早.
為了找尋有效的治療方法, 科學家們於一九九六年成功的建立一個相當類似患有亨丁頓氏舞蹈症的老鼠模式. 今年利用此種實驗動物及其他特
殊技術而剖析出此病的可能致病機轉 - 即病人的多膠氨片段本身會活化某一類導致細胞死亡的酵素而破壞病人的一些神經系統.而更令人振奮
的是科學家們發現使用藥物抑制此種特殊酵素的活性即可以延緩實驗老鼠疾病惡化之速度. 相信不久的將來憑著科學家們的努力及社會大眾
的支持和鼓勵, 許多遺傳疾病患者之無奈將如亨丁頓氏舞蹈症病人一樣開始逐漸化成希望之曙光.
Hurler Syndrome 賀勒氏病( 黏多醣症第一型 ): 見 Mucopolysaccharidoses (MPS Disorders)
Hutchinson Gilford Progeria Syndrome 哈金森-吉爾福特氏早老症: a rare progressive disorder that typically becomes apparent during the first year
or two of life. The most striking feature of the disorder is extremely accelerated aging (progeria). In most cases, affected infants appear to develop normally until
approximately six months of age. They may then begin to experience profound growth delays, resulting in short stature and low weight. Affected children also develop a
distinctive facial appearance characterized by a disproportionately small face in comparison to the head; an underdeveloped jaw (micrognathia); malformation and
crowding of the teeth; abnormally prominent eyes; a small, "beak-like" nose; and absent earlobes. In addition, by the second year of life, the scalp hair, eyebrows, and
eyelashes are lost (alopecia), and the scalp hair may be replaced by small, downy, white or blond hairs. Additional characteristic features include unusually prominent
veins of the scalp, loss of the layer of fat beneath the skin (subcutaneous adipose tissue), defects of the nails, joint stiffness, skeletal defects, and/or other abnormalities.
According to reports in the medical literature, individuals with Hutchinson-Gilford Progeria Syndrome develop premature, widespread thickening and loss of elasticity of
artery walls (arteriosclerosis), potentially resulting in life-threatening complications during childhood, adolescence, or early adulthood. In most patients,
Hutchinson-Gilford Progeria Syndrome is caused by new genetic changes that occur randomly for unknown reasons (sporadic). These mutations are thought to be
transmitted as an autosomal dominant trait.
Hydranencephaly 水腦: a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid. An infant with
hydranencephaly may appear normal at birth. The infant's head size and spontaneous reflexes such as sucking, swallowing, crying, and moving the arms and legs may
all seem normal. However, after a few weeks the infant usually becomes irritable and has increased muscle tone. After a few months of life, seizures and hydrocephalus
(excessive accumulation of cerebrospinal fluid in the brain) may develop. Other symptoms may include visual impairment, lack of growth, deafness, blindness, spastic
quadriparesis (paralysis), and intellectual deficits. Hydranencephaly is considered to be an extreme form of porencephaly (a rare disorder characterized by a cyst or
cavity in the cerebral hemispheres) and may be caused by vascular infections or traumatic disorders after the 12th week of pregnancy. Diagnosis may be delayed for
several months because early appears to be relatively normal. Some infants may have additional abnormalities at birth including seizures, myoclonus (spasm or
twitching of a muscle or group of muscles), and respiratory problems.
There is no definitive treatment for hydranencephaly. Treatment is symptomatic and supportive. Hydrocephalus may be treated with a shunt (a surgically implanted tube
that diverts fluid from one pathway to another).
Bradley, W, et al (eds). Neurology in Clinical Practice: Principles of Diagnosis and Management. vol. I, 2nd edition, Butterworth- Heinemann, Boston, pp. 551, 553f
(1996).
Dixon, A. Hydranencephaly. Radiography, 54:613; 12-13 (January/February 1988).
Doi, H, et al. The Use of Two-dimensional Doppler Sonography (Color Doppler) in the Diagnosis of Hydranencephaly. Child's Nervous System, 6; 456-458 (1990).
Hanigan, W, and Aldrich, W. MRI and Evoked Potentials in a Child With Hydranencephaly. Pediatric Neurology, 4:3; 185-187 (1988).
Poe, L, and Coleman, L. MRI of Hydranencephaly. American Journal of Neuroradiology, 10; S61 (September/October 1989).
Hydrocephalus 水腦 : a condition in which abnormally widened (dilated) cerebral spaces in the brain (ventricles) inhibit the normal flow of cerebrospinal fluid (CSF).
Although hydrocephalus was once known as "water on the brain," the "water" is actually cerebrospinal fluid (CSF) -- a clear fluid surrounding the brain and spinal cord.
The excessive accumulation of CSF results in an abnormal dilation of the spaces in the brain called ventricles. This dilation causes potentially harmful pressure on the
tissues of the brain. Hydrocephalus may be congenital or acquired. Congenital hydrocephalus is present at birth and may be caused by either environmental influences
or genetic predisposition. Acquired hydrocephalus develops at the time of birth or at some point afterward. Acquired hydrocephalus can affect individuals of all ages and
may be caused by injury or disease. The causes of hydrocephalus are not all well understood. Symptoms of hydrocephalus vary with age, disease progression, and
individual differences in tolerance to CSF. In infancy, the most obvious indication of hydrocephalus is often the rapid increase in head circumstance or an unusually large
head size. In older children and adults, symptoms may include headache followed by vomiting, nausea, papilledema (swelling of the optic disk, which is part of the optic
nerve), downward deviation of the eyes (called "sunsetting"), problems with balance, poor coordination, gait disturbance, urinary incontinence, slowing or loss of
development, lethargy, drowsiness, irritability, or other changes in personality or cognition, including memory loss. There are several different forms of Hydrocephalus:
54
 communicating hydrocephalus, non-communicating hydrocephalus or obstructive hydrocephalus, internal hydrocephalus, normal pressure hydrocephalus, and benign
hydrocephalus. Hydrocephalus is diagnosed through clinical neurological evaluation and by using cranial imaging techniques such as ultrasonography, computer
tomography (CT), magnetic resonance imaging (MRI), or pressure-monitoring techniques.
Hydrocephalus is most often treated with the surgical placement of a shunt system. This system diverts the flow of CSF from a site within the central nervous system to
another area of the body where it can be absorbed as part of the circulatory process. A shunt is a flexible but study silastic tube. A limited number of patients can be
treated with an alternative procedure called third ventriculostomy. In this procedure, a small hole is made in the floor of the third ventricle, allowing the CSF to bypass the
obstruction and flow toward the site of resorption around the surface of the brain.

Hyper IgM Syndrome 免疫球蛋白 IgM 亢進 : a rare genetic (primary) immunodeficiency disorder that is typically inherited as an X-linked recessive genetic trait.
Symptoms and physical findings associated with the disorder usually become apparent in the first or second year of life. Hyper-IgM Syndrome may be characterized by
recurrent pus-producing (pyogenic) bacterial infections of the upper and lower respiratory tract including the sinuses (sinusitis) and/or the lungs (pneumonitis or
pneumonia); the middle ear (otitis media); the membrane that lines the eyelids and the white portions (sclera) of the eyes (conjunctivitis); the skin (pyoderma); and/or, in
some cases, other areas. Individuals with Hyper-IgM Syndrome are also susceptible to "opportunistic" infections, i.e., infections caused by microorganisms that usually
do not cause disease in individuals with fully functioning immune systems (non-immunocompromised) or widespread (systemic) overwhelming disease by
microorganisms that typically cause only localized, mild infections. In individuals with Hyper-IgM Syndrome, such opportunistic infections may include those caused by
Pneumocystis carinii, a microorganism that causes a form of pneumonia, or Cryptosporidium, a single-celled parasite (protozoa) that can cause infections of the
intestinal tract. In addition, individuals with Hyper-IgM Syndrome are prone to certain autoimmune disorders affecting particular elements of the blood, such as
neutropenia, a condition in which there is an abnormal decrease of certain white blood cells (neutrophils). Additional physical findings often associated with the disorder
may include enlargement (hypertrophy) of the tonsils, enlargement of the liver and spleen (hepatosplenomegaly), chronic diarrhea and impaired absorption of nutrients
by the intestinal tract (malabsorption), and/or other symptoms. The range and severity of symptoms and physical features associated with this disorder may vary from
case to case. Because approximately 70 percent of reported cases of Hyper-IgM Syndrome are inherited as an X-linked recessive genetic trait, the vast majority of
affected individuals are male. However, some cases of autosomal recessive and autosomal dominant genetic inheritance have been reported. In addition, a rare
acquired form of the disorder has been described in the medical literature.
Hypercholesterolemia 高膽固醇血症 s unusually high cholesterol. It is a common disorder characterized by a high accumulation of fats in the blood. It is one of
the leading causes of atherosclerosis (fatty obstruction of the blood vessels), heart attack and stroke. High cholesterol is the leading health problem in the United States
and other Western countries accounting for 50 percent of all deaths. This disorder appears to get worse with advancing age, although in rare cases children can also be
affected.
Hyperchylomicronemia 高乳糜微粒血症: a rare hereditary inborn error of metabolism characterized by a massive accumulation of fatty droplets (chylomicrons)
in blood plasma, and a corresponding increase of the blood plasma concentration of fatty substances called triglycerides. The concentration of another fatty substance
called "very low density lipoprotein" (VLDL) is usually normal. The disorder is caused by the absence of the enzyme lipoprotein lipase.
Hyperemesis Gravidarum 齒堊質增生 (HG) : a rare disorder characterized by severe and persistent nausea and vomiting during early pregnancy that may
necessitate hospitalization. As a result of frequent nausea and vomiting, affected women experience dehydration, vitamin and mineral deficit, and the loss of greater than
five percent of their original body weight. Nausea and vomiting of pregnancy (NVP), more widely known as morning sickness, is a common symptom of pregnancy.
Many researchers believe that NVP should be regarded as a continuum of symptoms that may impact an affected woman's physical, mental and social well-being to
varying degrees. Hyperemesis gravidarum represents the severe end of the continuum. No specific line exists that separates hyperemesis gravidarum from NVP; in
most cases, affected individuals progress from mild or moderate nausea and vomiting to
Hyperexplexia : a rare hereditary neurological disorder. Individuals with this disorder have an excessive startle reaction to sudden unexpected noise, movement, or touch.
Symptoms include extreme muscle tension sometimes causing stiffness (hypertonia), and falling stiffly (like a log) to the ground without loss of consciousness.
Exaggeration of reflexes (hyperreflexia), and an unstable gait may also occur.
Hyperhidrosis, Primary 多汗症 a rare disorder characterized by excessive activity (hyperactivity) of the sweat glands (eccrine) in various parts of the body.
Symptoms may include generalized or localized profuse sweating. Sweating may occur on the palms of the hands, on the soles of the feet, in the underarm area
(axillary), in the groin area, and/or under the breasts. The exact cause of Primary Hyperhidrosis is not known. When excessive sweating occurs because of an
underlying disorder, it is said to be Secondary Hyperhidrosis, which is a more common condition than Primary Hyperhidrosis.
Hyperkalemia 高鉀血症 n abnormally high concentration of potassium in the blood. It usually occurs due to another underlying medical condition. The body uses
potassium for the contraction of muscles (including the heart) and for the functioning of many complicated proteins (enzymes). Potassium is found primarily in the
skeletal muscle and bone, and participates with sodium to contribute to the normal flow between the body fluids and the cells of the body. The concentration of
potassium in the body is regulated by the kidneys through excretion in urine. When the kidneys are functioning normally, the amount of potassium eaten in the diet is
usually sufficient for use by the body and the excess is excreted. Chemical and hormonal influences also regulate the internal potassium balance. Secretion of the
hormone insulin, which is normally stimulated by food, prevents a temporary diet-induced high level of potassium (hyperkalemia) by increasing cell absorption of
potassium. The hormone aldosterone also aids in regulating the internal balance of potassium. When hyperkalemia occurs, there is an imbalance resulting from a
dysfunction of these normal processes.
Hyperlipoproteinemia Type IV : an inherited metabolic disorder. It is characterized by an increased blood level of the fats called triglycerides which are contained in
very low-density lipids (VLDL). An abnormally high level of triglycerides or cholesterol can result from diet, from genetic causes, or it may occur secondary to other
metabolic disorders or as a side effect of certain drugs.
Hyperostosis Frontalis Interna : is characterized by the thickening of the frontal bone of the skull. It is not clear that this disorder is actually rare. Some clinicians
believe that it may be a common abnormality found in as many as 12 percent of the female population. The disorder may be found associated with a variety of conditions
such as seizures, headaches, obesity, diabetes insipidus, excessive hair growth and sex gland disturbances. Increased serum alkaline phosphatase and elevated serum
calcium may occur.
Hyperoxaluria, Primary (Type I)原發性( 第一型) 高草酸鹽尿症: a hereditary disorder characterized by an inborn error of glyoxylic acid metabolism.
Excessive formation of oxalic acid occurs in the liver, spleen, and kidneys, resulting in excessive levels of the acid in the urine. Calcium oxalate does not dissolve and
consequently "stones" are formed in the urinary tract.
Hyperprolinemia Type I 第一型高脯胺酸血症: a very rare hereditary disorder characterized by an abnormally high level of the amino acid proline in the blood
and urine. The high level of this substance is caused by a deficiency of the enzyme proline oxidase, which normally breaks down proline.
Hyperprolinemia Type II 第二型高脯胺酸血症: a very rare hereditary disorder characterized by an abnormally high level of the amino acid proline in the urine.
The high level of this substance is caused by a deficiency of the enzyme delta-1- pyrroline-5- carboxylic acid dehydrogenase. Mild mental retardation and seizures may
occur in some cases.
Hyperthermia 高燒 : Hyperthermia occurs when a person� s body temperature rises and remains above the normal; 98.6C Most frequently, this occurs during the heat of
summer and among the elderly. However, it may also be triggered by other medical conditions or certain medications. Hyperthermia is sometimes induced as a palliative
measure in the treatment of certain cancerous conditions.
Hypochondroplasia : an inherited skeletal disorder. Major symptoms include dwarfism that does not become evident until mid-childhood. The disorder is characterized
by a normal sized head and small but normally shaped hands and feet.
Hypoglycemia 血醣過低症: a common condition characterized by an abnormally low blood sugar (glucose) level. Glucose is essential for the functioning of many
organs and systems in the body, especially the central nervous system.
Hypohidrotic Ectodermal Dysplasia (HED) : a rare inherited multisystem disorder that belongs to the group of diseases known as ectodermal dysplasias.
Ectodermal dysplasias typically affect the hair, teeth, nails, and/or skin. HED is primarily characterized by partial or complete absence of certain sweat glands (eccrine
glands), causing lack of or diminished sweating (anhidrosis or hypohidrosis), heat intolerance, and fever; abnormally sparse hair (hypotrichosis); and absence
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 (hypodontia) and/or malformation of certain teeth. Many individuals with HED also have characteristic facial abnormalities including a prominent forehead, a sunken
nasal bridge (so-called "saddle nose"), unusually thick lips, and/or a large chin. The skin on most of the body may be abnormally thin, dry, and soft with an abnormal lack
of pigmentation (hypopigmentation). However, the skin around the eyes (periorbital) may be darkly pigmented (hyperpigmentation) and finely wrinkled, appearing
prematurely aged. In many cases, affected infants and children may also exhibit underdevelopment (hypoplasia) or absence (aplasia) of mucous glands within the
respiratory and gastrointestinal (GI) tracts and, in some cases, decreased function of certain components of the immune system (e.g., depressed lymphocyte function,
cellular immune hypofunction), potentially causing an increased susceptibility to certain infections and/or allergic conditions. Many affected infants and children
experience recurrent attacks of wheezing and breathlessness (asthma); respiratory infections; chronic inflammation of the nasal passages (atrophic rhinitis); scaling,
itchy (pruritic) skin rashes (eczema); and/or other findings. HED is usually inherited as an X-linked recessive genetic trait; in such cases, the disorder is fully expressed
in males only. However, females who carry a single copy of the disease gene (heterozygote carreirs) may exhibit some of the symptoms and findings associated with the
disorder. These may include absence and/or malformation of certain teeth, sparse hair, and/or reduced sweating. Researchers also have reported cases in which HED
appears to be inherited as an autosomal recessive genetic trait. In such cases, the disorder is fully expressed in both males and females.
Hypokalemia 低鉀血症: a metabolic imbalance characterized by extremely low potassium levels in the blood. It is a symptom of another disease or condition, or a
side effect of diuretic drugs. The body needs potassium for the contraction of muscles (including the heart), and for the functioning of many complicated proteins
(enzymes). Potassium is found primarily in the skeletal muscle and bone, and participates with sodium to contribute to the normal flow of body fluids between the cells in
the body. The normal concentration of potassium in the body is regulated by the kidneys through the excretion of urine. When the kidneys are functioning normally, the
amount of potassium in the diet is sufficient for use by the body and the excess is usually excreted through urine and sweat. Body chemicals and hormones such as
aldosterone also regulate potassium balance. Secretion of the hormone insulin, which is normally stimulated by food, prevents a temporary diet-induced Hypokalemia by
increasing cell absorption of potassium. When Hypokalemia occurs, there is an imbalance resulting from a dysfunction in this normal process, or the rapid loss of urine
or sweat without replacement of sufficient potassium.
Hypomelanosis of Ito : a rare disorder that is characterized by an unusual lack of skin color (hypopigmentation) affecting many areas of the body. It may be associated
with other symptoms such as mental retardation, seizures, a lack of sweating on the areas of hypopigmentation, crossed eyes (strabismus), nearsightedness, a cleft
along the edge of the eyeball (coloboma), overgrowth of brain tissue, and/or a small head. Hypomelanosis of Ito may occur sporadically or it be inherited as an
autosomal dominant trait.
Hypoparathyroidism 副甲狀腺功能過低症: a condition characterized by insufficient production of parathyroid hormones by the parathyroid glands, the small,
oval glands located near the thyroid gland in the neck. Parathyroid hormones (along with vitamin D and the hormone calcitonin, which is produced by the thyroid gland)
play a role in regulating levels of calcium in the blood. Due to deficiency of parathyroid hormones, affected individuals exhibit abnormally low levels of calcium in the
blood (hypocalcemia). Symptoms and findings associated with Hypoparathyroidism may include weakness, muscle cramps, excessive nervousness, headaches, and/or
increased excitability (hyperexcitability) of nerves resulting in uncontrollable twitching and cramping spasms of certain muscles such as those of the hands, feet, arms,
and/or face (tetany). Hypoparathyroidism may result from absence of the parathyroid glands at birth, occur due to or in association with a number of different
underlying disorders, or result from removal of or damage to the parathyroid glands. In rare cases, Hypoparathyroidism may be inherited as an autosomal recessive
genetic trait.
Hypophosphatasia : a inborn metabolic disorder of the bones characterized by skeletal defects resembling those of rickets. The symptoms result from a failure of bone
mineral to be deposited in young, uncalcified bone (osteoid), and in the cartilage at the end of the long bones (epiphyses) during early years. The activity of the enzyme
alkaline phosphatase in blood serum and bone cells is lower than normal. Urinary excretion and blood plasma concentrations of phosphoethanolamine and inorganic
pyrophosphate are abnormally high. Unlike other forms of rickets, Hypophosphatasia does not respond to treatment with vitamin D
Hypoplastic Left Heart Syndrome : Hypoplastic Left Heart Syndrome is a term used to describe a group of closely related rare heart defects which are present at
birth (congenital). The normal heart has four chambers. Two chambers are called atria which are separated from each other by a partition called the atrial septum. The
other two chambers, known as ventricles, are also separated by a septum. Valves connect the atria (left and right) to their respective ventricles. Hypoplastic Left Heart
Syndrome is characterized by the underdevelopment (hypoplasia) of the chambers on the left side of the heart (i.e., left atrium and ventricle). In addition, the mitral valve,
which connects these chambers to each other, is usually abnormally narrow (stenosis) or closed (atresia) and the aortic valve, which connects the heart to the major
vessels that lead from the lungs (ascending aorta), may also be narrow or closed. Infants with Hypoplastic Left Heart Syndrome also have an abnormally narrow
ascending aorta.
Hypotension, Orthostatic 姿態性高血壓 xtreme drop in blood pressure that occurs when a person stands up suddenly. The blood pools in the blood vessels of
the legs. Because of this pooling, there is a temporary decrease in the amount of blood carried back to the heart by the veins. Subsequently, less blood is pumped out
from the heart, resulting in a sudden drop in blood pressure. Normally, specialized cells in the body (baroreceptors) quickly respond to changes in blood pressure. These
baroreceptors then activate the autonomic nervous system's reflexes to increase levels of catecholamine in the body. Increased catecholamine levels rapidly restore the
blood pressure. When there is a defect in this reflex action, heart rate and blood pressure do not rise adequately and Orthostatic Hypotension results.
Hypothyroidism 甲狀腺功能低症: a condition characterized by abnormally decreased activity of the thyroid gland and deficient production of thyroid hormones.
The thyroid gland secretes hormones that play an essential role in regulating growth, maturation, and the rate of metabolism. Specific symptoms and findings
associated with hypothyroidism may be variable, depending upon the age at symptom onset, the degree of thyroid hormone deficiency, and/or other factors. In many
adults with hypothyroidism, the condition may be characterized by generalized fatigue and lack of energy (lethargy), muscle weakness and cramping, dryness of the skin
and hair, incomplete or infrequent passing of stools (constipation), sensitivity to cold, and other symptoms. If the condition is present at birth (congenital hypothyroidism),
associated symptoms and findings may become apparent during early infancy. These may include respiratory and feeding difficulties, listlessness, protrusion of the
abdomen, constipation, dry skin, coarse hair, progressive accumulation of fluid within bodily tissues, and other associated abnormalities. Some affected infants may have
progressive retardation of physical and mental development that becomes increasingly severe (cretinism) without early recognition of the condition and prompt treatment.
There are several different causes of hypothyroidism. The condition may result from an underlying defect that is present at birth (congenital), such as improper
development (dysplasia) or absence (aplasia) of the thyroid gland or biochemical (enzymatic) abnormalities. The condition may also develop later during childhood or
adulthood (acquired) due to certain underlying disorders, the use of particular medications, or surgical removal of the thyroid gland. Although hypothyroidism most
frequently affects adult females, the condition occurs in both genders and may become apparent at any age.
Hypotonia, Benign Congenital : a nonprogressive neuromuscular disorder which occurs at birth. This condition is characterized by decreased muscle tone that is
manifested as muscle weakness or "floppiness." The condition can occur as a disorder of unknown cause, or as a symptom of other neuromuscular diseases.

I
I cell disease I 細胞症 : (Mucolipidosis II) is a rare inherited metabolic disorder characterized by multiple enzyme deficiencies (i.e., beta-N-acetylhexosaminidase,
arylsulfatase A, iduronate sulfatase, and glycosidases). This disorder belongs to a group of diseases known as lysosomal storage disorders. Lysosomes are particles
bound in membranes within cells that break down certain fats and carbohydrates. Multiple enzyme deficiencies associated with I-Cell Disease lead to the accumulation
of certain fatty substances (mucolipids) and certain complex carbohydrates (mucopolysaccharides) within the cells of many tissues of the body. The symptoms of I-Cell
Disease are similar to but more severe than those of Hurler Syndrome. The symptoms associated with this disorder typically become obvious during infancy and may
include multiple abnormalities of the skull and face, growth delays, and/or mental retardation. I-Cell Disease is inherited as an autosomal recessive genetic trait.
Ichthyosis 魚鱗癬( 角質化 ) : a general term describing a group of skin disorders that are characterized by an excessive accumulation of large amounts of dead
skin cells (squames) in the top layer of the skin. The conversion of an abnormally large number of skin cells into squamous cells is thought to be caused by a defect in
the metabolism of skin cells known as "corneocytes," or of the fat-rich matrix around these cells. The cells can be thought of as bricks, while the matrix would be the
mortar holding these cells together. In general, all forms of Ichthyosis cause dry scaly skin.
Ichthyosis congenital : an inherited skin disorder. It is characterized by generalized, abnormally red (erythroderma), dry and rough skin.
Ichthyosis Hystrix, Curth Macklin Type : a rare inherited skin disorder. It is characterized by scaling skin (ichthyosis) ranging from mild to severe. Thick, horny skin
(keratoderma) on the palms of the hands and the soles of the feet may occur with no other symptoms, or the whole body surface may be covered with scales.
Ichthyosis, Chanarin Dorfman Syndrome : a rare hereditary disorder of fat (lipid) metabolism. It is characterized by scaly skin (ichthyosis), degeneration of the
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 muscles (myopathy), and abnormal white blood cells with small spaces (vacuoles) filled with fat (lipids).
Ichthyosis, CHILD Syndrome : (an acronym for Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects) is an inherited disorder characterized
by skin abnormalities and limb defects on one side of the body. Abnormalities of other parts of the body may also be present.
Ichthyosis, Erythrokeratodermia Progressiva Symmetrica : a rare hereditary skin disorder characterized by red hardened (keratotic) plaques with clear
limits. These plaques are distributed symmetrically on the surface of both sides of the body, as well as on the head, buttocks, and extremities. The lesions first appear
during infancy. This disorder is a form of Ichthyosis, a group of rare hereditary disorders characterized by scaly skin.
Ichthyosis, Erythrokeratodermia Variabilis : a form of Ichthyosis, a group of hereditary skin disorders characterized by scaly patches on the skin. In this type of
Ichthyosis, sharply defined red areas (erythemas) resemble a geographic map with a shifting configuration. Fixed hardened (keratotic) skin plaques independent of the
red areas usually also develop. Skin lesions are localized in most cases, but may spread over the entire body surface.
Ichthyosis, Erythrokeratolysis Hiemalis : a form of Ichthyosis, which is a group of hereditary skin disorders. This condition is characterized by periodic attacks of
red (erythematous) plaques that are distributed equally on both sides of the body. A layer of skin can be peeled from these plaques. Symptoms usually improve with age.
Ichthyosis, Harlequin Type : a rare genetic skin disorder characterized by massive, thick skin plates that usually produce distorted facial features and often deformities
in other parts of the body. At birth the chest and abdomen of patients are usually severely constricted. This makes breathing and eating difficult. The skin symptoms can
be somewhat controlled with treatment.
Ichthyosis, Keratosis Follicularis Spinulosa Decalvans : a rare skin disorder. The disorder is characterized by hardening of the skin (keratosis) around the
hair follicles, leading to progressive scarring and baldness (alopecia).
Ichthyosis, Lamellar Recessive : a serious skin disorder. Cornification, which is the conversion of the upper layer of the skin into scaly or platelike (squamous) type
skin, is the major symptom. The entire body surface is involved, with large, dark, platelike scales. In serious cases, the eyelids and the lips may turn outward (ectropion).
Ichthyosis, Netherton Syndrome : a rare hereditary skin disorder occurring almost exclusively in females. This disorder is characterized by scaling of the skin in a
distinctive circular pattern (ichthyosis linearis circumflexa). Symptoms affecting the hair include hair shafts held back in the hair root (trichorrhexis invaginata) or a fragile
hair condition, called "bamboo hair". Both skin and hair abnormalities are caused by conversion of an abnormally large amount of epidermal skin cells into dead cells
(cornification). Another characteristic of Netherton Syndrome is a predisposition to allergies such as asthma, or food allergies which cause skin eruptions.
Ichthyosis, Sjogren Larsson Syndrome : an inherited disorder characterized by scaling skin (ichthyosis), mental retardation, speech abnormalities, and spasticity.
Affected infants develop various degrees of reddened skin, and fine scaling skin. Additionally, larger plate-like thick scales (hyperkeratosis) usually develop in the outer
skin layer (hyperkeratosis). After infancy, skin on the arms, legs and the abdomen often displays dark scales and absence of redness. Speech abnormalities and
seizures may accompany skin symptoms. Approximately half of the children affected with this disorder will have degeneration of the pigment in the retina of the eyes.
Ichthyosis, Tay Syndrome : a hereditary disorder characterized by brittle, twisted hair, scaly dry skin (ichthyosis), and abnormal finger and toe nails. Loss of
subcutaneous fat results in a prematurely aged-looking face. Physical development is usually slowed and mental retardation may also be present. A wide variety of
central nervous system abnormalities may include seizures, tremors, lack of muscle coordination (ataxia), and neurosensory deafness. The reproductive organs are
usually underdeveloped. Very small cataracts often develop in the eyes. Abnormalities of the bones and teeth may also occur, as well as an increased susceptibility to
infection.
Ichthyosis, X Linked : a genetic skin disorder that affects males. It is an inborn error of metabolism characterized by a deficiency of the enzyme steroid sulfatase. This
enzyme defect leads to several biochemical alterations in the steroid sex hormone metabolism, including diminished maternal estrogen production in late pregnancy.
Cholesterol sulfate may accumulate in the blood and skin. Normal functioning of sex hormones does not appear to be affected. Corneal opacities may be present, but do
not interfere with vision.
Ichthyosis vulgaris : an inherited skin disorder characterized by cornification of the skin. Scaly or platelike (squamous) skin forms instead of the normal smooth top layer
of the skin. Fine scales usually develop on the patient's back and over muscles near a joint such as an elbow or a knee (extensor muscles).
IgA nephropathy: a kidney disorder occuring during childhood and young adulthood. It usually follows a viral infection of the upper respiratory or gastrointestinal tracts.
The major symptom is the passing of blood in the urine (hematuria). There may be associated pain in the loin area.
Imperforate anus 肛門閉鎖 : a rare inborn abnormality characterized by the absence or abnormal localization of the anus. The rectum or the colon may be
connected to the vagina or the bladder by a tunnel (fistula). With surgical correction, normal elimination can become possible.
Inclusion body myositis (IBM, or inflammatory myositis) : an inflammatory muscle disease characterized by slow and relentlessly progressive muscle
weakness and atrophy of the muscles. The disorder is very similar to another inflammatory myopathy called polymyositis. In fact, IBM is often diagnosed in cases of
polymyositis that are unresponsive to therapy. However, IBM has its own distinctive features. The onset of muscle weakness in IBM is generally gradual (over months or
years). Also, IBM, which occurs more frequently in men than women, affects both the proximal (closest to the center of the body) and distal (farthest from the center of
the body) muscles. There may be weakness of the wrist and finger muscles and atrophy of the quadricep muscles in the legs. Atrophy or shrinking of the forearms is also
characteristic. Difficulty swallowing (dysphagia) occurs in approximately half of IBM cases. Symptoms of the disease usually begin after the age of 50, although the
disease can occur in any age group. Falling and tripping are usually the first noticeable symptoms of IBM. For some patients the disorder begins with weakness in the
hands causing difficulty with gripping, pinching, and buttoning.
There is no standard course of treatment for IBM. The disease is unresponsive to corticosteroids and other immunosuppressive drugs. Some evidence suggests that
intravenous immunoglobulin may have a slight, but transient, beneficial effect in a small number of cases. Physical therapy may be helpful in maintaining mobility. Other
therapy is symptomatic and supportive.
Askanas, V, and Engel, W. Sporadic Inclusion-Body Myositis and Hereditary Inclusion-Body Myopathies Archives of Neurology, 55:7; 915-920 (July 1998).
Barohn, R. The Therapeutic Dilemma of Inclusion Body Myositis. Neurology, 48; 567-568 (March 1997).
Dalakas, M, et al. Treatment of Inclusion-Body Myositis with IVIg: A Double-Blind, Placebo-Controlled Study. Neurology, 48; 712-716 (March 1997).
Dalakas, M. Current Treatment of the Inflammatory Myopathies. Current Opinion in Rheumatology, 6; 595-601 (1994).
Dalakas, M. Polymyositis, Dermatomyositis, and Inclusion-Body Myositis. The New England Journal of Medicine, 325:21; 1487-1498 (November 21, 1991).
Dalakas, M, and Luciano, C. Inclusion Body Myositis: No Evidence for a Neurogenic Component. Neurology, 48; 29-33 (January 1997).
Griggs, R, et al. Inclusion body myositis and myopathies. Annals of Neurology, 38:5; 705-713 (November 1995).
Sekul, E, and Dalakas, M. Inclusion Body Myositis: New Concepts. Seminars in Neurology, 13:3; 256-263 (September 1993).
Soueidan, S, and Dalakas, M. Treatment of Inclusion-Body Myositis with High-Dose Intravenous Immunoglobulin. Neurology, 43:5; 876-879 (May 1993).
Incontinentia pigmenti (IP) : a rare, genetic disorder characterized by unusual patterns of discolored skin. The genetic transmission is X-linked dominant. Males are
more severely affected than females. The disorder is caused by excessive deposits of melanin (normal skin pigment). IP is divided into 4 stages, which frequently
overlap or appear together. During the first stage, which begins between birth and 6 months of age, there is inflammation accompanied by skin redness and spiral lines
of small fluid-filled blisters. The second stage gradually develops with rough, warty skin growths which appear on the arms or legs and, sometimes, on the head or trunk.
These growths, which are often arranged in the same spiral or linear pattern as in the first stage, usually resolve during infancy or early childhood. The third stage begins
between 3 months and 2 years of age and is characterized by discolorations appearing in unusual patterns. The fourth stage consists of diminished pigmentation or
atrophy in areas of previous discoloration. In rare cases of IP, hair loss with scarring and non-dermatological symptoms such as dental problems (delayed tooth growth
or decay, missing or malformed teeth), diminished vision, seizures, muscle spasms, or slight paralysis may occur. Developmental abnormalities including dwarfism or
short stature, club foot, spina bifida, skull and ear deformities, cleft lip or palate, atrophy on one side of the body, abnormal development of cartilage, congenital
dislocation of hip, incomplete development of one side of the spinal bones, and extra ribs or webbed fingers may occur with the disorder but are not characteristic. In a
few cases of IP, extremely wooly or kinky hair and an immune system dysfunction may also appear.
The skin abnormalities of IP usually disappear by adolescence or adulthood without treatment. Diminished vision may be treated with corrective lenses, medication, or, in
severe cases, surgery. Dental and hair problems may be treated by a specialist. Neurological symptoms such as seizures, muscle spasms, or mild paralysis may be
controlled with medication and/or medical devices and with the advice of a neurologist.
Bradley, W, et al (eds) Neurology in Clinical Practice: Principles of Diagnosis and Management. vol. II, Butterworth-Heinemann, Boston, pp. 1338-1339 (1991).
Catalano, R. Incontinentia Pigmenti. American Journal of Ophthalmology, 110:6; 696-700 (December 1990).

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 Catalano, R, et al. Treatment of Proliferative Retinopathy Associated with Incontinentia Pigmenti. American Journal of Ophthalmology, 110:6; 701-702 (December
1990).
Rahi, J, and Hungerford, J. Early Diagnosis of the Retinopathy of Incontinentia Pigmenti: Successful Treatment by Cryotherapy. British Journal of Ophthalmology, 74:6;
377-379 (June 1990).
Rowland, L (ed). Merritt's Textbook of Neurology. 8th edition, Lea & Febiger, Philadelphia, p. 585 (1989).
Interstitial cystitis 間質膀胱炎 hronic, painful inflammatory condition of the bladder wall characterized by pressure and pain above the pubic area along with
frequency and urgency of urination. This occurs because of chronic inflammation of the lining of the bladder and swelling of the interior walls of the bladder. Affected
individuals urinate frequently with pain even though there is no diagnosed bladder infection. In a small percentage of cases, people with Interstitial Cystitis also have
scarring and ulcerations on the membranes that line the bladder. Interstitial Cystitis typically affects young and middle-aged women, although men can also have this
disorder.
Intestinal pseudo-obstruction : a digestive disorder that may be present at birth. The intestinal walls are unable to contract normally in wave-like (peristaltic) motions
(hypomotility). This condition resembles a true obstruction, but no such blockage exists. Abdominal pain, vomiting, diarrhea, constipation, malabsorption of nutrients
leading to weight loss and/or failure to thrive, enlargement of various parts of the small intestine or bowel also occur.
Irritable Bowel Syndrome : also known as Spastic Colon or Mucous Colitis, is a digestive disorder characterized by an abnormal increase in the mobility of the
intestines (small and large). Symptoms may include abdominal pain, constipation, and diarrhea. This disorder is common; about 50 percent of all gastrointestinal
problems are associated with Irritable Bowel Syndrome. There is no organic disease present, only the function of the intestines is affected. However, based on the
symptoms, this disease can be confused with other organic bowel diseases.
Isaacs syndrome : a peripheral motor neuron disorder characterized by muscular stiffness and cramping, particularly in the limbs. Continuous fine vibrating muscle
movements (myokymia) can be seen. Muscle relaxation may be difficult especially after physical activity involving the particular muscle(s). These symptoms persist even
during sleep.
Ivemark syndrome : a rare progressive disorder usually evident at birth. It is characterized by the absence of a spleen, malformations of the cardiovascular system and
abnormal displacement of the abdomen and intestines.

J
Jackson Weiss Syndrome : a rare disorder inherited as an autosomal dominant genetic trait.This disorder is characterized by permanent premature closure of the
bones of the skull (craniosynostosis) along with abnormalities of bones in the face and feet. Typically the deformities of the feet include fusion of the bones of the upper
foot along with malformed great toes. Symptoms of this disorder can vary within a family from mild to severe.
Jansen Type Metaphyseal Chondrodysplasia : an extremely rare progressive disorder in which portions of the bones of the arms and legs develop abnormally
with unusual cartilage formations and subsequent abnormal bone formation at the large (bulbous) end portions (metaphyses) of these long bones (metaphyseal
chondrodysplasia). As a result, affected individuals exhibit unusually short arms and legs and short stature (short-limbed dwarfism), findings that typically become
apparent during early childhood. Abnormal cartilage and bone development may also affect other bones of the body, particularly those of the hands and feet (i.e.,
metacarpals and metatarsals). Infants with Jansen type metaphyseal chondrodysplasia may also have characteristic facial abnormalities and additional skeletal
malformations. During childhood, affected individuals may begin to exhibit progressive stiffening and swelling of many joints and/or an unusual "waddling gait" and
squatting stance. In addition, affected adults may eventually develop abnormally hardened (sclerotic) bones especially in the back of the head (cranial bones), which, in
some cases, may lead to blindness and/or deafness. The range and severity of symptoms may vary from case to case. Jansen type metaphyseal chondrodysplasia is
thought to be inherited as an autosomal dominant genetic trait.
Jarcho Levin Syndrome : a rare genetic disorder characterized by distinctive malformations of bones of the spinal column (vertebrae) and the ribs, respiratory
insufficiency, and/or other abnormalities. In infants with Jarcho-Levin Syndrome, the trunk may appear abnormally short due to fusion of many vertebrae, incomplete
development (dysplasia) of one side of certain vertebrae (hemivertebrae), fusion of certain ribs, and/or other rib malformations. In addition, abnormalities of vertebrae
within the neck area (cervical vertebrae) may cause shortness of the neck, limited neck motion, and an abnormally low hairline. In many infants with the disorder, the
abdomen may be abnormally prominent and the arms and legs may appear unusually long, although they may actually be of normal length. In addition, in most cases,
infants with Jarcho-Levin Syndrome experience respiratory insufficiency and are prone to repeated respiratory infections (pneumonia) that may result in life-threatening
complications. Jarcho-Levin Syndrome is thought to be inherited as an autosomal recessive genetic trait.
Jejunal Atresia 空腸閉鎖 : a rare genetic disorder. Patients with this disorder are born with a partial absence of the fold of the stomach membrane that connects the
small intestine to the back wall of the abdomen. As a result, one of the three portions of the small intestine (the jejunal) twists around one of the arteries of the colon
called the marginal artery and causes a blockage (atresia). Symptoms in individuals with this disorder include vomiting, a swollen abdomen, and constipation.
Job Syndrome : an immunodeficiency syndrome characterized by recurrent bacterial (staphylococcal) infections, particularly of the skin, and markedly elevated IgE
[Immunoglobulin E] levels. Some patients have an autosomal dominant inheritance. The staphylococcal infection may involve the skin, lungs, joints and other sites.
Some patients have coarse features; some are fair and redheaded. Decreased bone density and frequent fractures are common. Some present with neutrophils (a
particular white blood cell) that doesn� t function normally. Signs of allergy, e. g. eczema, asthma and/or runny noses, are sometimes present as well. Treatment consists
of intermittent or continuous antibiotics. Trimethoprim/sulfamethoxazole is particularly effective.
Johanson Blizzard Syndrome : (JBS) is an extremely rare inherited disorder characterized by an unusually small nose that appears "beak shaped" due to absence
(aplasia) or underdevelopment (hypoplasia) of the nostrils (nasal alae); abnormally small, malformed primary (deciduous) teeth and misshapen or absent secondary
(permanent) teeth; and/or unusually sparse, dry, coarse scalp hair that tends to have a distinctive "upsweep" in the forehead area. In addition, affected infants may have
a low birth weight, demonstrate signs of insufficient intestinal absorption (malabsorption) of fats and other nutrients due to abnormal development of the pancreas
(exocrine pancreatic insufficiency), and fail to grow and gain weight at the expected rate (failure to thrive) during the first years of life, contributing to short stature.
Approximately one third of infants with Johanson-Blizzard Syndrome also demonstrate abnormally decreased activity of the thyroid gland and underproduction of thyroid
hormones (hypothyroidism), causing generalized weakness and contributing to growth retardation as well as abnormal delays in the acquisition of skills requiring the
coordination of mental and physicial activity (psychomotor retardation). In many cases, affected infants may also exhibit hearing impairment of both ears at birth due to
abnormalities of the inner ear (congenital bilateral sensorineural hearing loss) and may experience associated, severe speech impairment. In addition, approximately 60
percent of affected children have moderate mental retardation; however, others may have normal intelligence or mild retardation. In many cases, additional abnormalities
may also be present. The range and severity of symptoms may vary greatly from case to case. Johanson-Blizzard Syndrome has autosomal recessive inheritance.
Joseph's Disease : a rare inherited neurological disorder of the central nervous system characterized by the slow degeneration of certain areas of the brain. Symptoms
begin during adulthood. Neurological impairment and loss of feeling in the arms and legs (peripheral sensory loss) typically occur. There are three forms of Joseph's
Disease: Types I, II, III. This disorder mainly affects people of Portuguese ancestry.
Joubert Syndrome : a very rare neurological disorder involving a malformation of the area of the brain that controls balance and coordination. The disorder is
characterized by absence or underdevelopment of a part of the brain called the cerebellar vermis and a malformed brain stem. The most common features include ataxia
(lack of muscle control), an abnormal breathing pattern called hypernea, sleep apnea, abnormal eye and tongue movements, and hypotonia. Other malformations such
as extra fingers and toes, cleft lip or palate, tongue abnormalities, and seizures may also occur. There may be mild or moderate retardation.
Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some patients. Infants with
abnormal breathing patterns should be monitored.
Bordarier, C, and Aicardi, J. Dandy-Walker Syndrome and Agenesis of the Cerebellar Vermis: Diagnostic Problems and Genetic Counselling Developmental Medicine
and Child Neurology, 32; 285-294 (1990)
Cantani, A, et al. Joubert Syndrome: Review of the Fifty-three Cases So Far Published Annals of Genetics, 33:2; 96-98 (1990)
Joynt, R (ed). Clinical Neurology vol. 3, Chapter 37, J.B. Lippincott Co., Philadelphia, p. 93 (1990)
Lambert, S, et al. Joubert Syndrome Archives of Ophthalmology, 107; 709-713 (May 1989)
Saraiva, J, and Baraitser, M. Joubert Syndrome: A Review American Journal of Medical Genetics, 43; 726-731 (1992)

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Juberg Marsidi Syndrome : an extremely rare X-linked inherited disorder that affects males only and is apparent at birth (congenital) or ring the first few weeks of life
(neonatal period). Affected children exhibit severe mental retardation; delays in reaching developmental milestones (e.g., crawling, walking, etc.); muscle weakness;
diminished muscle tone (hypotonia); and/or delayed bone growth as well as growth retardation, resulting in short stature. Affected infants also exhibit hearing loss;
underdevelopment of the genitals (microgenitalism); and/or abnormalities of the head and facial (craniofacial) area such as an abnormally small head (microcephaly), a
flat (depressed) nasal bridge, eye (ocular) abnormalities, and/or, in some cases, additional physical abnormalities. The range and severity of symptoms may vary from
case to case. Juberg-Marsidi Syndrome is inherited as an X-linked recessive genetic trait.
Jumping Frenchmen of Maine : a disorder characterized by an unusually extreme startle reaction. The startle reaction is a natural response to an unexpected noise
or sight. This disorder was first identified during the late nineteenth century in Maine and the Canadian province of Quebec. Lumberjacks of French Canadian descent
were originally associated with this phenomenon but it has since been observed in other societies in many parts of the world as well. "Jumping Frenchmen" is suspected
to be a genetic disorder and/or an extreme conditioned response to a particular situation possibly influenced by cultural factors. Symptoms tend to improve with age.

K
Kabuki make up syndrome : a rare disorder characterized by mental retardation, short stature, unusual facial features, abnormalities of the skeleton and unusual skin
ridge patterns on the fingers, toes, palms of the hands and soles of the feet. The majority of the reported cases of this disorder have occurred for no apparent reason
(sporadic). However several cases have been cases have been reported to be inherited as an autosomal dominant trait.
Kallikrein hypertension : a rare inherited disorder in which the organ that produces sex cells does not function properly (hypogonadism) and there is a loss of the
sense of smell (anosmia). The impaired production of hormones as well as sperm and egg cells often causes delayed puberty, growth and infertility. This disorder affects
both males and females, although it is more common in males.
Kallmann syndrome : a genetic disorder combining three major symptoms. These include chronic enlargement of the bronchial tubes (bronchiectasis), chronic
inflammation of the lining of the sinuses (sinusitis), and abnormal cross-positioning of body organs during prenatal development (situs inversus).
Kawasaki disease : an inflammatory disease of unknown cause that most commonly affects infants and young children. The disease may be characterized by a high
fever, inflammation of the mucous membranes of the mouth and throat, a reddish skin rash, and swelling of one or more lymph nodes (lymphadenopathy). In addition,
individuals with Kawasaki disease may develop inflammation of arteries that transport blood to heart muscle (coronary arteritis), associated bulging or widening
(aneurysms) of the walls of affected coronary arteries, inflammation of the thick muscular layer (myocarditis) of the heart, and/or other symptoms and findings. Kawasaki
disease is the primary cause of acquired heart disease in children in the United States. Some researchers suggest that toxic substances produced by certain forms of
bacteria, such as streptococci or staphylococci, may play some role in causing the inflammatory disease process. In addition, some indicate that an abnormal
autoimmune reaction may contribute to acute inflammation of heart muscle (myocarditis) in some individuals with the disease.
KBG Syndrome : a very rare genetic disorder characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs,
vertebrae, extremities, and/or underdevelopment of the bones of the skeleton. Abnormalities of the head and face (craniofacial dysmorphism) and malformations of the
teeth and jaws (dento- skeletal dysplasia) may also be present. KBG Syndrome is thought to be inherited as an autosomal dominant genetic trait with variable degree of
penetrance.
Kearns-Sayre syndrome ( KSS ) : a rare neuromuscular disorder characterized by three primary findings: progressive paralysis of certain eye muscles (chronic
progressive external ophthalmoplegia [CPEO]); abnormal accumulation of colored (pigmented) material on the nerve-rich membrane lining the eyes (atypical retinitis
pigmentosa), leading to chronic inflammation, progressive degeneration, and wearing away of certain eye structures (pigmentary degeneration of the retina); and heart
disease (cardiomyopathy) such as heart block. Other findings may include muscle weakness, short stature, hearing loss, and/or the loss of ability to coordinate voluntary
movements (ataxia) due to problems affecting part of the brain (cerebellum). In some cases, Kearns-Sayre Syndrome may be associated with other disorders and/or
conditions. Kearns-Sayre Syndrome belongs (in part) to a group of rare neuromuscular disorders known as mitochondrial encephalomyopathies. Mitochondrial
encephalomyopathies are disorders in which a defect in genetic material arises from a part of the cell structure that releases energy (mitochondria), causing the brain
and muscles to function improperly (encephalomyopathies). In these disorders, abnormally high numbers of defective mitochondria are present. In approximately 80
percent of cases of Kearns-Sayre Syndrome, tests will reveal missing genetic material (deletion) involving the unique DNA in mitochondria (mtDNA).
Kennedy Disease : a rare, slowly progressive muscular disorder that affects males only and is inherited as an X-linked genetic trait. Uncontrollable twitching
(fasciculations) followed by weakness and wasting of the muscles becomes apparent some time after the age of fifteen. The muscles of the face, lips, tongue, mouth,
throat, vocal chords, trunk and limbs may be affected. Swelling of the breasts, difficulty swallowing, and very large calves may also be found in some patients with this
disorder.
Kenny Caffe Syndrome : an extremely rare hereditary skeletal disorder characterized by thickening of the long bones, thin marrow cavities in the bones (medullary
stenosis), and abnormalities affecting the head and eyes. Most cases are obvious at birth (congenital). The primary outcome of Kenny-Caffe Syndrome is short stature.
Mental abilities are rarely affected. Individuals with Kenny-Caffe Syndrome may also have recurrent episodes of low levels of calcium in the blood stream (hypocalcemia)
that is caused by insufficient production of parathyroid hormones (Hypoparathyroidism). Most cases of Kenny-Caffe Syndrome are thought to be inherited as autosomal
dominant genetic traits. Some cases may be autosomal recessive; X-linked autosomal recessive genetic inheritance has not been ruled out.
Keratitis ichthyosis deafness syndrome (KID): a very rare disorder that occurs most often for no apparent reason but has also been linked to an autosomal
recessive trait. It is characterized by inflammation of the eyes corneas (keratitis), fixed hardened skin scales (plaques) on the extremities and face, thick hardened skin
on the palms of the hands and the soles of the feet, and deafness.
Keratoconjunctivitis, Vernal 角膜結膜炎 : a non-contagious, seasonal allergic disorder usually occuring during the spring or warm weather. Major symptoms
include inflammation of the conjunctiva of the eyes, sensitivity to light and intense itching.
Keratoconus 錐形角膜突出 : a slowly progressive enlargement of the curved transparent outer layer of fibrous tissue covering the eyeball (cornea). The resulting
conical shape of the cornea causes blurred vision and other vision problems. Inherited forms of this disorder usually begin after puberty. Keratoconus can also occur in
conjunction with a variety of other disorders.
keratomalacia 角膜軟化 : an eye disease caused by a deficiency of vitamin A. Vitamin A (retinol) is found mainly in fish liver oils, liver, egg yolk, cream and butter.
The human body stores vitamin A mainly in the liver. Once it is released by the liver, vitamin A is converted to light sensitive pigments in the retina that are involved in
night, day and color vision. Vitamin A also helps maintain healthy body tissue. Keratomalacia is very rare in North America and Western Europe, but is a leading cause of
blindness in Southeast Asia, parts of Africa and Central and South America. In these areas vitamin A deficiency is usually caused by general malnutrition in infants and
young children.
Keratosis, Seborrheic 皮脂漏角化病 skin disorder usually characterized by discolored lesions that appear to be "stuck on" the skin surface. Warts may appear
and skin is often oily or greasy. These skin lesions are sometimes mistaken for cancerous growths and tend to appear predominately during middle age. Itching, irritation,
inflammations or unsightliness of lesions may require surgical removal of affected skin areas.
Kernicterus( Yellow nuclei) 核性黃膽 : a rare neurological disorder characterized by excessive levels of bilirubin in the blood (hyperbilirubinemia) during infancy.
Bilirubin is an orange-yellow bile pigment that is a byproduct of the natural breakdown of hemoglobin in red blood cells (hemolysis). Toxic levels of bilirubin may
accumulate in the brain, potentially resulting in a variety of symptoms and physical findings. These symptoms may include lack of energy (lethargy), poor feeding habits,
fever, and vomiting. Affected infants may also experience the absence of certain reflexes (e.g., Moro reflex, etc.); mild to severe muscle spasms including those in which
the head and heels are bent backward and the body bows forward (opisthotonus); and/or uncontrolled involuntary muscle movements (spasticity). In some cases, infants
with kernicterus may develop life-threatening complications.
Cooke, RWI. New approach to prevention of kernicterus Lancet 353: 1814-1815, 1999
Kienboeck disease : an acquired bone disorder. Abnormalities of the lunate bone in the wrist develops following an injury or inflammation. Recurrent pain and stiffness
occur in conjunction with thickening, swelling and tenderness in soft tissue overlying the lunate bone. The range of motion in the wrist may become limited.
Kikuchi disease : also known as histiocytic necrotizing lymphadenopathy, is a rare, benign, (noncancerous, nonmalignant) disorder of the lymph nodes of young adults,
predominantly of young women. This disorder is often mistaken for malignant lymphoma, especially cervical adenopathy because the symptoms are very similar. The
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 lesions, or tissue anomalies of this disorder cause the lymph nodes to become enlarged, inflamed and painful. The exact cause of Kikuchi's Disease is not known.
Perhaps the primary threat is a misdiagnosis of a malignant lymphoma.
Kinsborne syndrome ( Opsoclonus myoclonus, Myoclonic encephalopathy infant, Dancing Eyes-Dancing feet Syndrome ): a rare
neurological disorder that usually affects infants and young children. It is characterized by unsteady gait, intention tremor (rhythmic, involuntary motions of the limbs
during voluntary movements), myoclonus (brief, shock-like muscle spasms), and opsoclonus (irregular, rapid, horizontal and vertical eye movements). Other symptoms
may include dysphasia (difficulty speaking), dysarthria (poorly articulated speech), mutism (inability to speak), hypotonia (decreased muscle tone), lethargy, irritability, or
malaise (a vague feeling of bodily discomfort). Opsoclonus myoclonus may occur in association with tumors or viral infections. The sudden onset of brief, repeated,
shock-like spasms of several muscles within the arms, legs, or entire body (polymyoclonus), an impaired ability to control voluntary movements (ataxia), and continual,
involuntary, rapid eye movements in both horizontal and vertical directions (opsoclonus). In approximately 50 percent of affected individuals, a malignant tumor, usually a
tumor of embryonic nerve cells (neuroblastoma), is responsible for the symptoms associated with Kinsbourne Syndrome. In most other cases, Kinsbourne Syndrome
may be due to a viral infection such as Coxsackievirus B3, poliovirus, or St. Louis encephalitis virus. Rarely, the disorder may result due to other underlying causes such
as a tumor within the skull (intracranial tumors) or hydrocephalus, a condition in which inhibition of the normal flow of cerebrospinal fluid (CSF) and abnormal widening
(dilatation) of the cerebral spaces of the brain (ventricles) causes accumulation of CSF in the skull and potentially increased pressure on brain tissue.
Treatment for opsoclonus myoclonus may include corticosteroids or ACTH (adrenocorticotropic hormone). In cases where there is a tumor present, treatment such as
chemotherapy, surgery, or radiation may be required.
Diseases of the Nervous System: Clinical Neurobiology vol. II, 2nd edition, W.B. Saunders Co., Philadelphia, pp. 1109-1110 (1992)
Bradley, W, et al (eds) Neurology in Clinical Practice: The Neurological Disorders vol. II, 2nd edition, Butterworth-Heinemann, Boston, pp. 1167-1168 (1996)
Pranzatelli, M. The Neurobiology of the Opsoclonus-Myoclonus Syndrome Clinical Neuropharmacology, 15:3; 186-228 (1992)
Rowland, L (ed) Merritt's Textbook of Neurology 9th edition, Williams & Wilkins, Baltimore, pp. 703-704 (1995)
Kleine Levin Syndrome : a rare disorder characterized by the need for excessive amounts of sleep (hypersomnolence), (i.e., up to 20 hours a day); excessive food
intake (compulsive hyperphagia); and an abnormally uninhibited sexual drive. The disorder primarily affects adolescent males. When awake, affected individuals may
exhibit irritability, lack of energy (lethargy), and/or lack of emotions (apathy). They may also appear confused (disoriented) and experience hallucinations. Symptoms of
Kleine-Levin Syndrome are cyclical. An affected individual may go for weeks or months without experiencing symptoms. When present, symptoms may persist for days
to weeks. In most cases, the symptoms associated with Kleine-Levin Syndrome eventually disappear with advancing age. The exact cause of Kleine-Levin Syndrome is
not known. However, researchers believe that in some cases, the disorder may be inherited as an autosomal dominant genetic trait. It is thought that symptoms of
Kleine-Levin Syndrome may be related to malfunction of the portion of the brain that helps to regulate functions such as sleep, appetite, and body temperature
(hypothalamus).
Klinefelter Syndrome : The classic form of Klinefelter Syndrome causes impaired function of the testes (primary hypogonadism) in males. This rare disorder is
characterized by the presence of an extra X chromosome. Klinefelter Syndrome may not be diagnosed until puberty because the symptoms may be very subtle until that
age and secondary sex characteristics are not apparent before puberty.
Amory, John K; Anawalt, Bradley D; Paulsen, C Alvin; Bremner, William J . Klinefelter Syndrome Lancet 356: 333-335, 2000
Klippel Feil Syndrome : a rare, congenital disorder of the spine. Major symptoms may include a short neck, low hairline at the back of the head and restricted mobility of
the upper spine. There may also be associated hearing loss, neurologic, heart, kidney and breathing problems.
Klippel Trenaunay Syndrome : a rare disorder that is present at birth (congenital), is characterized by abnormal benign growths on the skin (cutaneous) consisting of
masses of blood vessels (hemangiomas), excessive growth (hypertrophy) of the soft tissue and bone of a leg and/or arm (limb), and varicose veins. (In individuals with
the disorder, such hypertrophy typically affects one side of the body [hemihypertrophy].) In many cases, hemangiomas may consist of distinctive purplish-reddish
birthmarks ("port wine stain" or nevus flammeus) on certain areas of the skin. The symptoms and findings associated with the disorder may vary in range and severity
from case to case.
Kluver Bucy Syndrome : a very rare cerebral neurological disorder. Major symptoms may include an urge to put all kinds of objects into the mouth, memory loss,
extreme sexual behavior, placidity, and visual distractibility.
Kniest Syndrome : a type of dwarfism that is characterized by unusually short arms and legs, a round face with hollow or depressed areas, swelling and stiffness of the
joints, and a stiff drawing up (contractures) of the fingers. Cleft palate, abnormal curvature of the spine (scoliosis), and vision and/or hearing problems may also occur.
Intellect is usually normal in people with this syndrome.
Kohler Disease : a rare bone disorder of the foot characterized by a painful, swollen foot, eventually causing the individual to limp. It generally occurs in children between
the ages of three and five and affects males more often than females. Recovery usually occurs in less than a year.
Korsakoff's Syndrome 科爾薩科夫氏徵候群: a deficiency of vitamin B-1 (or thiamine) which causes cardiovascular, central and peripheral nervous system
disturbances. The disease results from either inadequate dietary intake or from impaired absorption or utilization of vitamin B-1. It is common in the Orient where
excessive milling of rice reduces its thiamine content.
Krabbe disease ( Globoid Cell Leukodystrophy ): a rare, degenerative disorder of the central and peripheral nervous systems. It is one of a group of genetic
disorders called the leukodystrophies that affect the growth of the myelin sheath, the fatty covering which acts as an insulator on nerve fibers in the brain. The disease is
caused by a deficiency of an enzyme called galactosylceramidase. Symptoms vary in prevalence and severity among patients and may include loss of previously
attained developmental skills, unexplained fevers, irritability, myoclonic seizures (sudden, shock-like contractions of the limbs), blindness, spasticity (stiffness of the
limbs), and paralysis. Prolonged weight loss may occur also. Onset of the disorder generally occurs at 3 to 6 months of age. Juvenile and adult forms exist too.
Although there is no cure for Krabbe disease, bone marrow transplantation is being studied as a possible therapy for mild cases early in the course of the disease.
Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation.
Bradley, W, et. al. (eds). Neurology in Clinical Practice: The Neurological Disorders. vol. II, 2nd edition, Butterworth-Heinemann, Boston, pp. 1554-1555 (1996).
Krivit, W, et. al. Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy. The New England Journal of Medicine, 338:16; 1119-1126 (April 16, 1998).
Krivit, W, et. al. The Future for Treatment by Bone Marrow Transplantation for Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy and
Hurler Syndrome. Journal of Inherited Metabolic Disease, 18; 398-412 (1995).
Rowland, L (ed). Merritt's Textbook of Neurology. 9th edition, Williams & Wilkins, Baltimore, pp. 558-561 (1995).
Shapiro, E., et. al. Neuropsychological Outcomes of Several Storage Diseases With and Without Bone Marrow Transplantation. Journal of Inherited Metabolic Disease,
18; 413-429 (1995).
Thoene, J. (ed). Physicians' Guide to Rare Diseases. Dowden Publishing Co., Inc., Montvale, NJ, pp. 374-375 (1992).
Kufs Disease : The chief characteristics of Kufs Disease are neurologic symptoms that may mimic mental illness, and dermatologic abnormalities resembling ichthyosis.
Symptoms of Kufs Disease may be linked to excess accumulations of pigments (lipofuscins) dissolved in fat tissues that are found throughout the central nervous
system. Kufs Disease, Batten Disease and Bielchowsky Disease are different forms of the same disorder and are differentiated by the age of onset (see the Related
Disorders section of this report). Both major forms of this disorder may be extremely difficult to differentiate from other progressive degenerative diseases of the central
nervous system.
Kugelberg Welander Syndrome : a rare inherited disorder. Major symptoms may include wasting and weakness in the muscles of the arms and legs, twitching,
clumsiness in walking, and eventual loss of reflexes. Kugelberg- Welander Syndrome is not apparent at birth, it usually appears during the first 10 to 20 years of life.

L
Laband Syndrome: an extremely rare inherited disorder characterized by abnormalities of the head and facial (craniofacial) area and the hands and feet. Most children
with this disorder have abnormally large gums (gingival fibromatosis). Overgrown gums may affect the ability to chew, swallow, and/or speak. In addition, affected infants
may exhibit abnormally long, thin fingers and toes and/or deformed (dysplastic) or absent nails at birth. In some cases, mental retardation may also be present. Laband
Syndrome is believed to be inherited as an autosomal dominant genetic trait.
Lactose Intolerance 乳糖耐受不能 ( 中國人常見的遺傳疾病 ): Lactose is a sugar found in milk and milk products. People with lactose intolerance
60
 cannot properly digest lactose. This disorder is an inborn error of carbohydrate metabolism characterized by the impaired ability to absorb nutrients from the small
intestine (malabsorption syndrome).
LADD Syndrome : a rare genetic disorder characterized primarily by malformations of the upper limbs and inherited through an autosomal dominant trait. Other symptoms
of the disorder may include: malformations in the structures and ducts that secrete tears and drain them from the surface of the eyeball (the lacrimal apparatus);
abnormalities of the teeth; small cupped ears; absent or underdeveloped salivary glands; hearing loss; abnormalities of the sexual and urinary system of the body
(genitourinary) and/or unusual skin ridge patterns.
Landau Kleffner Syndrome ( LKS ) Landau Kleffner 徵候群；後天性顛癇性失語症: also called acquired epileptiform aphasia (loss of language),
a rare neurological disorder of childhood that is characterized by sudden or gradual development the loss of the ability to understand speech and deterioration of
previously acquired speech and language skills (aphasia) and an abnormal electro-encephalogram (EEG). LKS affects the parts of the brain that control speech and
comprehension. Most children with Landau-Kleffner syndrome also experience episodes of uncontrolled electrical disturbances in the brain (convulsive epileptic
seizures). Some affected children also lose the ability to identify environmental sounds and show a general lack of attention to sounds (auditory agnosia). The exact
cause of this disorder is not known. Symptoms, which develop due to brain dysfunction, vary greatly among affected individuals.The disorder usually occurs in children
between the ages of 3 and 7. Typically, these children develop normally and then, for no apparent reason, they lose the ability to understand others and to speak. While
many of the affected individuals have seizures, some do not. The disorder is difficult to diagnose and may be misdiagnosed as autism, pervasive developmental disorder,
hearing impairment, learning disability, auditory/verbal processing disorder, attention deficit disorder, mental retardation, childhood schizophrenia, or
emotional/behavioral problems.
Treatment for LKS usually consists of medications, such as anticonvulsants and corticosteroids, and speech therapy, which should be started early. Another controversial
treatment option involves a surgical technique called multiple subpial transection in which the pathways of abnormal electrical brain activity are severed.
Deonna, T. Acquired Epileptiform Aphasia in Children (Landau-Kleffner Syndrome). Journal of Clinical Neurophysiology, 8:3; 288-298 (1991).
Gordon, N. Acquired Aphasia in Childhood: the Landau-Kleffner Syndrome. Developmental Medicine and Child Neurology, 32:3; 270-274 (1990).
Landau, W. Landau-Kleffner Syndrome: An Eponymic Badge of Ignorance. Archives of Neurology, 49; 353 (April 1992).
Lerman, P, Lerman-Sagie, T, and Kivity, S. Effect of Early Corticosteroid Therapy for Landau-Kleffner Syndrome. Developmental Medicine and Child Neurology, 33:3;
257-266 (1991).
Paquier, P, Van Dongen, H, and Loonen, M. The Landau-Kleffner Syndrome or Acquired Aphasia with Convulsive Disorder. Archives of Neurology, 49; 354-359 (April
1992).
Tharpe, A, Johnson, G, and Glasscock III, M. Diagnostic and Management Consideration of Acquired Epileptic Aphasia or Landau-Kleffner Syndrome The American
Journal of Otology, 13:3, 210-214 (May 1991)
Laron Dwarfism: a rare genetic disorder that results from the body's inability to use the growth hormone that it produces. People with this disorder produce normal levels
of growth hormone but the levels in their plasma may be high because the body does not use the hormone properly. The Laron form of dwarfism is characterized by very
small stature, peculiar facial features, and high levels of growth hormone in plasma.
Larsen Syndrome: a multi-system genetic disorder that is present at birth. It is characterized by multiple bone dislocations and abnormalities, an extremely high arch of
the foot, non-tapering cylindrically shaped fingers, and an unusual facial appearance. In some cases, short stature, heart problems, cleft palate or lips, deafness, or
mental retardation may also occur.
Laurence Moon Syndrome: a rare inherited disorder characterized by diminished hormone production by the testes or ovaries (hypogonadism), progressive loss of
vision (retinitis pigmentosa), mental retardation, and paralysis of the legs and lower part of the body accompanied by involuntary muscle contractions (spastic
paraplegia). Confusion exists in the medical literature regarding the difference between Laurence-Moon Syndrome and Bardet-Biedl Syndrome. Some researchers
believe that Bardet-Biedl Syndrome is a subdivision of Laurence-Moon Syndrome which they term "Laurence-Moon-Biedl Syndrome."
Learning disabilities : disorders that affect the ability to understand or use spoken or written language, do mathematical calculations, coordinate movements, or direct
attention. Although learning disabilities occur in very young children, the disorders are usually not recognized until the child reaches school age.
The most common treatment for learning disabilities is special education. Specially trained educators may perform a diagnostic educational evaluation assessing the
child's academic and intellectual potential and level of academic performance. Once the evaluation is complete, the basic approach is to teach learning skills by building
on the child's abilities and strengths while correcting and compensating for disabilities and weaknesses. Other professionals such as speech and language therapists
also may be involved. Some medications may be effective in helping the child learn by enhancing attention and concentration. Psychological therapies may also be
used.
Silver, LB. Controversial Approaches to Treating Learning Disabilities and Attention Deficit Disorder American Journal of Diseases of Children, 140; 1045-1052
(October 1986)
Lyon, GA, Gray, DB, Kavanagh, JF, and Krasnegor, NA (eds). Better Understanding Learning Disabilities: New Views From Research and Their Implications for
Education and Public Policies Paul H. Brookes Publishing Co., Baltimore, MD (1993)
Leber's Congenital Amaurosis(LCA) : a rare genetic eye disorder. Affected infants are often blind at birth or loss their sight within the first few of years of life. Other
symptoms may include crossed eyes (strabismus); rapid, involuntary eye movements (nystagmus); unusual sensitivity to light (photophobia); clouding of the lenses of
the eyes (cataracts); and/or abnormal protrusion of the front (anterior), clear portion of the eye through which light passes (cornea) (keratoconus). In addition, some
infants may exhibit hearing loss, mental retardation, and/or a delay in the acquisition of skills that require the coordination of mental and muscular activity (psychomotor
retardation). Leber� s Congenital Amaurosis is inherited as an autosomal recessive genetic trait.
Leber's Optic Atrophy: a rare inherited disorder of the eye that is characterized by the slow, painless, progressive loss of vision in one eye. Within a few weeks or
months, the other eye often becomes involved. In most cases, visual loss is permanent. In some cases, affected individuals may experience recurrent headaches and
gradual deterioration of the nerves of the eye (optic atrophy). Leber� s Optic Atrophy is inherited due to abnormal changes in genetic material (mutation[s]) found within
the unique DNA of mitochondria (mtDNA). Mitochondria, which are found by the hundreds in the cells of the body, particularly in muscle and nerve tissue, carry the
blueprints for regulating energy production.
Legg Calve Perthes Disease (LCPD) : one of a group of disorders known as the Osteochondroses. The Osteochondroses typically are characterized by
degeneration (avascular necrosis) and subsequent regeneration of the growing end of a bone (epiphyses). In Legg-Calve-Perthes Disease, the growing end (epiphysis)
of the upper portion (capital) of the thigh bone (femur) is affected. Researchers believe that an unexplained interruption of the blood supply (ischemia) to the capital
femoral epiphysis results in degeneration (avascular necrosis) and deformity of the thigh bone in this area. Symptoms may include a limp with or without pain in the hip,
knee, thigh, and/or groin; muscle spasms; delayed maturation of the femur (delayed bone age); mild short stature; and/or limited movements of the affected hip. The
disease process seems to be self-limiting as new blood supplies are established (revascularization) and new healthy bone forms (reossifies) in the affected area. Most
cases of Legg-Calve-Perthes Disease occur randomly for no apparent reason (sporadically). Other cases are thought to be inherited as an autosomal dominant genetic
trait.
Legionnaire's Disease : is recognized as an acute respiratory pneumonia caused by the aerobic gram-negative microorganism, Legionella pneumophila, and other
species. This microorganism may also affect other body systems. Afflicted patients may have pulmonary (lung and bronchi), gastrointestinal tract, and central nervous
system complications. Renal insufficiency may occur occasionally and can be severe enough to require dialysis.
Leigh's Disease 黎氏症 ( 一種粒腺體疾病 ): a rare inherited neurometabolic disorder. It is characterized by the degeneration of the central nervous system
(i.e., brain, spinal cord, and optic nerve). The symptoms of Leigh's Disease ,a rapidly progressive disorder, usually begin between the ages of three months and two
years, the first noticeable signs may be poor sucking ability, loss of head control, and loss of previously acquired motor skills.. Symptoms are associated with progressive
neurological deterioration and may include loss of previously acquired motor skills, loss of appetite, vomiting, irritability, and/or seizure activity. As Leigh's Disease
progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis, which may lead to impairment of respiratory and
kidney function. In most cases, Leigh's Disease is inherited as an autosomal recessive genetic trait. However, autosomal dominant, X-linked recessive, and
mitochondrial inheritance have also been noted. There appear to be several different types of genetically determined enzyme defects that can cause Leigh's Disease.
The most common treatment for Leigh's disease is the administration of thiamine or Vitamin B1. In patients who have a deficiency of pyruvate dehydrogenase enzyme
complex, a high-fat, low-carbohydrate diet may be recommended. Oral sodium bicarbonate or sodium citrate may also be prescribed for management of lactic acidosis.
van Erven, P, Cillessen, J, Eekhoff, E, Gabreels, F, Doesburg, W, Lemmens, W, Sloof, J, Renier, W, and Ruitenbeek, W. Leigh Syndrome, a Mitochrondrial
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 Encephalo(myo)pathy Clinical Neurology and Neurosurgery, 89:4; 217-230 (1987)
Wallace, D. Mitochondrial DNA in Aging and Disease Scientific American, pp. 40-47 (August 1997)
Erythroderma desquamativa of Leiner : a rare skin disorder that usually first appears during the end of the first month of life or the beginning of the second month.
The disorder is characterized by the appearance of a reddish, thickened rash on various parts of an infant's body. Additional symptoms include chronic diarrhea and the
failure to gain weight at the expected rate (failure to thrive). The exact cause of erythroderma desquamativa of Leiner is unknown.
Lennox Gastaut Syndrome (LGS) ; Acquired Epileptic Aphasia; Worster-Drought syndrome:
onset in children and a severe epileptic disorder with multiple seizure types. Status epilepticus common 發生在兒童或嬰兒 ( 1~ 8 )
之一種特別嚴重的癲癇.
Seizure precipitated by drowsiness or understimulation, not by hyperventilation or photic stimulation
Progressive mental and psychomotor retardation, e.g. poor social skills and attention-seeking behavior.
EEG shows 1-2.5Hz spike and wave complex and abnormal background rhythms, without photosensitivitye
Seizure types, which vary among patients, include tonic (stiffening of the body, upward deviation of the eyes, dilation of the pupils, and altered respiratory patterns), atonic
(brief loss of muscle tone and consciousness, causing abrupt falls), atypical absence (staring spells), and myoclonic (sudden muscle jerks).
Poor response to most antiepileptic drug treatment.
Bradley, W, et al (eds) Neurology in Clinical Practice: The Neurological Disorders vol. II, 2nd edition, Butterworth-Heinemann, Boston, p. 1637 (1996)
Glauser, T. Pediatric Epilepsy Syndromes Current Opinion in Pediatrics, 7:6; 640-649 (December 1995)
Magalini, S, et al (eds) Dictionary of Medical Syndromes 4th edition, J.B. Lippincott Co., Philadelphia, pp. 482-483 (1997)
Roger, J, Dravet, C, and Bureaus, M. The Lennox-Gastaut Syndrome Cleveland Clinic Journal of Medicine, 56:(Suppl. Part 2); S172-S180 (1991)
Rowland, L (ed). Merritt's Textbook of Neurology 10th edition, Lippincott Williams & Wilkins, Philadelphia, pp. 815-816 (2000)
Lenz Microphthalmia Syndrome: an extremely rare inherited disorder characterized by abnormal smallness of one or both eyes (unilateral or bilateral
microphthalmos) and/or droopy eyelids (blepharoptosis), resulting in visual impairment. In rare cases, affected infants may exhibit complete absence of the eyes
(anophthalmia). Most affected infants also exhibit developmental delay and mental retardation, ranging from mild to severe. Additional physical abnormalities are often
associated with this disorder such as an unusually small head (microcephaly) and/or malformations of the teeth, ears, and/or fingers and/or toes (digits). The range and
severity of findings may vary from case to case. Lenz Microphthalmia Syndrome, which is inherited as an X-linked recessive genetic trait, is fully expressed in males only.
However, females who carry one copy of the disease gene (heterozygotes) may exhibit some of the symptoms associated with the disorder, such as an abnormally small
head (microcephaly), short stature, and/or malformations of the fingers and/or toes.
LEOPARD Syndrome : an extremely rare inherited disorder characterized by abnormalities of the skin, the structure and function of the heart, the inner ear, the head
and facial (craniofacial) area, and/or the genitals. In individuals with the disorder, the range and severity of symptoms and physical characteristics may vary from case to
case. "LEOPARD," an acronym for the characteristic abnormalities associated with the disorder, stands for (L)entigines, multiple black or dark brown "freckle-like"
spots on the skin; (E)lectrocardiographic conduction defects, abnormalities of the electrical activity--and the coordination of proper contractions--of the heart; (0)cular
hypertelorism, widely-spaced eyes; (P)ulmonary stenosis, obstruction of the normal outflow of blood from the lower right chamber (ventricle) of the heart; (A)bnormalities
of the genitals; (R)etarded growth resulting in short stature; and (D)eafness or hearing loss due to malfunction of the inner ear (sensorineural deafness). Some
individuals with LEOPARD Syndrome may also exhibit mild mental retardation, speech difficulties, and/or, in some cases, additional physical abnormalities. In most
cases, LEOPARD Syndrome appears to occur randomly for unknown reasons (sporadically). However, in other cases, the disorder is thought to be inherited as an
autosomal dominant genetic trait.
Leprechaunism 森林小精靈樣容貌症候群( 又稱 Donohue 氏症): a progressive hereditary endocrine disorder characterized by overdevelopment
(hyperplasia) of the pancreas, insulin resistance, and excessive amounts of estrogens. It may be associated with abnormal carbohydrate metabolism, and a large
quantity of iron in the liver (hepatic siderosis). Physical and sometimes mental retardation occurs with facial abnormalities and abnormal external genitalia.
Leprosy 痲瘋病: a chronic infectious disease of humans caused by the bacteria Mycobacterium leprae. For many years, it was considered a mysterious disorder
associated with some type of curse, and persons with the disease were isolated and ostracized. Today, there is effective treatment and the disease can be cured. There
is no longer any justification for isolating persons with leprosy. The disease can affect the skin, mucous membranes, and eyes and some of the nerves that are located
outside the central nervous system (peripheral nerves). These are primarily the nerves of the hands, feet, and eyes, and some of the nerves in the skin. In severe,
untreated cases, loss of sensation, muscle paralysis of hands and feet, disfigurement, and blindness may occur. Leprosy has traditionally been classified into two
major types, tuberculoid and lepromatous. Patients with tuberculoid leprosy have limited disease and relatively few bacteria in the skin and nerves, while lepromatous
patients have widespread disease and large numbers of bacteria. Tuberculoid leprosy is characterized by a few flat or slightly raised skin lesions of various sizes that are
typically pale or slightly red, dry, hairless, and numb to touch (anesthetic). Lepromatous leprosy is at the other end of the spectrum, with a much more generalized
disease, diffuse involvement of the skin, thickening of many peripheral nerves, and at times involvement of other organs, such as eyes, nose, testicles, and bone. There
are also intermediate subtypes between these two extremes that are commonly known as borderline leprosy. The intermediate subtypes are borderline tuberculoid,
midborderline, and borderline lepromatous leprosy. Borderline leprosy and the subtypes are characterized by more extensive disease than polar tuberculoid, with more
numerous skin lesions and more nerve involvement, but not as widespread disease as in lepromatous leprosy. Indeterminate leprosy refers to a very early form of
leprosy that consists of a single skin lesion with slightly diminished sensation to touch. It will usually progress to one of the major types of leprosy. In 1982, the World
Health Organization proposed a simplified classification that has only two classifications, Paucibacillary (PB) and Multibacillary (MB), leprosy. This classification is now
used worldwide for treatment purposes. The older and somewhat more complex classification is still used in some programs, especially for clinical research studies. The
Paucibacillary classification encompasses indeterminate, tuberculoid and borderline tuberculoid leprosy. The Multibacillary classification includes midborderline,
borderline lepromatous and lepromatous leprosy.
Jacobson, Robert R; Krahenbuhl, James L. Leprosy. Lancet 353: 655-660, 1999
Leptospirosis : an inclusive term for all bacterial infections caused by any Leptospira bacteria, regardless of the type. A single type of bacteria may cause various clinical
symptoms, or a single syndrome such as aseptic meningitis may be caused by many types of this bacteria.
Leri Pleonosteosis : an extremely rare inherited disorder characterized by unusual, flattened facial features, abnormalities of the hands and feet, skeletal malformations,
short stature, and/or limitation of joint movements. Characteristic abnormalities of the hands and feet may include unusually broad and/or short thumbs and great toes
(brachydactyly) that may be bent outward from the body (valgus position); as a result, the hands may have a "spade-shaped" appearance. Skeletal malformations may
include knees that are bent backward (genu recurvitum) and abnormal enlargement of the cartilaginous structures that surround the upper portion of the spinal cord
(posterior neural arches of the cervical vertebrae). In addition, affected individuals may develop thickened tissue on the palms (palmar) and forearms. Symptoms may
vary from case to case. Leri Pleonosteosis is inherited as an autosomal dominant genetic trait.
Lesch Nyhan Syndrome 雷希-奈翰氏症( 先天性嘌呤合成異常疾病): a rare inborn error of purine metabolism characterized by the absence of the
enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Purine, a nitrogen-containing compound found in many foods (e.g., organ meats, poultry, and
legumes), is not broken down properly, due to the absence of HPRT. Uric acid levels are abnormally high in people with Lesch-Nyhan Syndrome, and they form sodium
urate crystals that are deposited in the joints, kidneys, central nervous system, and other tissues of the body. Lesch-Nyhan Syndrome is inherited as an X-linked
recessive genetic disorder that effects only males. The gene has been localized to the long arm of the X chromosome. LNS is characterized by self-mutilating behaviors
such as lip and finger biting and/or head banging. The symptoms of LNS usually appear between the ages of 3 and 6 months. Frequently the first symptom is the
presence of orange-colored crystal-like deposits (orange sand) in the diapers of affected infants. The deposits, which are called urate crystal formation, are caused by
increased levels of uric acid in the urine. Uric acid levels, which are abnormally high in individuals with LNS, may also cause sodium urate crystals to form in the joints,
kidneys, central nervous system, and other tissues of the body. Other symptoms of LNS may include kidney stones, blood in the urine, pain and swelling of the joints,
difficulty swallowing (dysphagia) and eating, and vomiting, impaired kidney function, irritability, uncontrolled aggressive and/or compulsive actions, muscle weakness
(hypotonia), uncontrolled spastic muscle movements, and neurological problems such as involuntary writhing movements of the arms and legs (athetosis) and
purposeless repetitive movements (chorea) such as shoulder raising and lowering and/or facial grimacing. Moderate mental retardation is also common. Some
individuals may develop a rare disorder called megaloblastic anemia.
Treatment for LNS is symptomatic. The drug allopurinol may be used to control excessive amounts of uric acid. Kidney stones may be treated with lithotripsy. There is no

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 standard treatment for the neurological symptoms of LNS. Some symptoms may be relieved with the drugs carbidopa/levodopa, diazepam, phenobarbital, or haloperidol.
Bradley, W, et al (eds). Neurology in Clinical Practice: Principles of Diagnosis and Management vol. II, Butterworth-Heinemann, Boston, pp.1291-1292 (1991)
Gibbs, D. Advances in the Study of Inherited Metabolic Disease Journal of Inherited Metabolic Disease, 12; 240-246 (1989)
Jankovic, J. Orofacial and Other Self-Mutilations Advances in Neurology, 49; 365-381 (1988)
Thoene, J (ed). Physicians? Guide to Rare Diseases Dowden Publishing Co., Inc., Montvale, NJ, p. 217 (1992)
Wyngaarden, J, et al (eds). Cecil Textbook of Medicine 19th edition, W.B. Saunders Co., Philadelphia, pp. 1115-1116 (1992)
Leukemia, Chronic Lymphocytic 慢性淋巴球白血病 : a malignant blood disorder in which there is an increased number of white blood cells formed in the
lymphoid tissue. This uncontrolled buildup and enlargement of lymphoid tissue can occur in various sites of the body such as the lymph nodes, spleen, bone marrow,
and lungs. There are many different forms of Leukemia which are all characterized by an overabundance of white blood cells. In Chronic Lymphocytic Leukemia the
disease occurs in the lymphoid tissue. The lymph vessels, which return fluids to the circulatory system, and the lymph nodes, which are a mass of tissue separated into
compartments by connective tissue, make up the immune system. The lymph nodes serve as filters, removing foreign particles, tissue debris, and bacterial cells from the
circulation. When this system is not working properly, the body's defenses cannot fight off foreign particles. In the majority of cases, Chronic Lymphocytic Leukemia is
the result of a rapid production of B lymphocyte cells (a short-lived type of white blood cell that is responsible for the production of vertebrate serum proteins that include
antibodies). A small percentage of Chronic Lymphocytic Leukemia cases stem from the overproduction of T lymphocyte cells (a type of white blood cell that have a long
life and are important in the resistance of disease).
Leukemia, Chronic Myelogenous : is characterized by an excessive amount of white blood cells in the bone marrow, spleen, liver and blood. As the disease
progresses, the leukemic cells invade other areas of the body including the intestinal tract, kidneys, lungs, gonads and lymph nodes. There are two phases to chronic
myelogenous leukemia. The first phase, or chronic phase, is characterized by an overproduction of white blood cells. An advanced phase is called the acute phase or
blast crisis. At this point, over 50 percent of the cells in the bone marrow are immature malignant cells (blast cells or promelocytes). In the acute phase, the leukemia is
very aggressive and does not respond well to therapy. Approximately 85 percent of all individuals with chronic myelogenous leukemia enter the acute phase.
Leukemia, Hairy Cell : a rare type of blood cancer characterized by the presence of abnormal mononuclear blood cells called "hairy cells," and by a deficiency of other
blood cell elements (pancytopenia), including an abnormal decrease of certain white blood cells (neutrophils [neutropenia]) and certain red blood cells (platelets
[thrombocytopenia]). Affected individuals usually exhibit fatigue, weakness, fever, weight loss, and/or abdominal discomfort due to an abnormally enlarged spleen
(splenomegaly). In addition, affected individuals may have a slightly enlarged liver (hepatomegaly) and may be unusually susceptible to bruising and/or severe infection.
The exact cause of hairy cell leukemia is not known.
Leukodystrophy ("the leukodystrophies") : refers to a group of genetic disorders that are characterized by the imperfect growth or development of the white
matter or myelin sheath covering nerve fibers in the brain. The name given to a group of very rare, progressive, metabolic, genetic diseases that affect the brain, spinal
cord and often the peripheral nerves. Each of the leukodystrophies will affect one of the chemicals that make up the myelin sheath or white matter of the brain, causing
the various types of leukodystrophy. Specific leukodystrophies include metachromatic leukodystrophy, Krabbe leukodystrophy, adrenoleukodystrophy,
Pelizaeus-Merzbacher disease, Canavan disease, Alexander disease, Zellweger syndrome, Refsum disease, and cerebrotendinous xanthomatosis. Novel
leukodystrophies have recently been described. The most common signs seen in most leukodystrophies include gradual changes in an infant or child who previously
appeared well. Changes may appear in body tone, movements, gait, speech, ability to eat, vision, hearing, behavior, memory, or thought processes. The symptoms,
which vary according to the specific type of leukodystrophy, may be difficult to recognize in the early stages of the disease
. A few leukodystrophies have effective treatment. Most require symptomatic and supportive therapy, and may include medications, physical, occupational and speech
therapies, and nutritional, educational, and recreational programs.
Bradley, W, et al (eds). Neurology in Clinical Practice: The Neurological Disorders vol. II, 2nd edition, Butterworth-Heinemann, Boston, pp. 1554-1556 (1996)
Menkes, J. The Leukodystrophies The New England Journal of Medicine, 322:1; 54-55 (January 4, 1990)
Rowland, L (ed). Merritt's Textbook of Neurology 9th edition, Williams & Wilkins, Baltimore, pp. 558-561 (1995)
Wyngaarden, J, et al (eds). Cecil Textbook of Medicine 19th edition, W.B. Saunders Co., Philadelphia, pp. 2200-2201 (1992)
Leukodystrophy, Canavan's : a rare inherited neurological disorder characterized by spongy degeneration of the brain and spinal cord (central nervous system).
Symptoms may include progressive mental decline accompanied by the loss of muscle tone, poor head control, an abnormally enlarged head (megalocephaly), and/or
blindness. Canavan's Leukodystrophy is caused by a deficiency of the enzyme aspartoacylase. Symptoms appear in early infancy and usually progress rapidly.
Leukodystrophy, Krabbe's 克雷伯氏腦白質失養症 : a very rare hereditary lipid storage disorder caused by a deficiency of the enzyme galactoside
beta-galactosidase (galactosyl-ceramidase). This causes the myelin sheath surrounding nerves in the brain to degenerate (demyelination). Characteristic globoid cells
appear in affected areas of the brain. This metabolic disorder is characterized by progressive neurological dysfunction such as mental retardation, paralysis, blindness,
deafness and pseudobulbar palsy.
Leukodystrophy, Metachromatic(MLD): the most common form of leukodystrophy, is a rare inherited neurometabolic disorder affecting the white matter of the
brain (leukoencephalopathy). It is characterized by the accumulation of a fatty substance known as sulfatide (a sphingolipid) in the brain and other areas of the body (i.e.,
liver, gall bladder, kidneys, and/or spleen). The fatty protective covering on the nerve fibers (myelin) is lost from areas of the central nervous system (CNS) due to the
buildup of sulfatide. Symptoms of Metachromatic Leukodystrophy may include convulsions, seizures, personality changes, spasticity, progressive dementia, motor
disturbances progressing to paralysis, and/or visual impairment leading to blindness. Metachromatic Leukodystrophy is inherited as an autosomal recessive trait. There
are three forms of the disease that have similar symptoms. However, they are distinguished by the age of onset: infantile, juvenile, and adult forms of Metachromatic
Leukodystrophy.
Lichen Planus : a rare, recurrent, itchy rash or area of inflammatory eruptions (lesions) of unknown origin characterized by shiny reddish-purple spots on the skin and
gray-white ones in the mouth. The disorder may present as itchy spots on the wrist, legs, torso, genitals, mouth, or lips. The eruptions may appear as small separate,
angular spots that may coalesce into rough scaly patches. This disorder is frequently accompanied by oral lesions of the mucous membranes that line the mouth. The
disorder affects women more frequently than men.
Lichen Sclerosus : a chronic skin disorder that most commonly affects females after menopause; however, cases have been identified among younger females
(pre-menopausal). This disorder is characterized by skin changes of the external genitalia (i.e., vulva), although other parts of the body may also be affected. In some
very rare cases, males have also been affected (known as Balanitis Xerotica Obliteran). Lichen Sclerosus can develop concurrently with other skin abnormalities.
Lichen sclerosis is a chronic inflammatory skin disease that causes substantial discomfort and morbidity, most commonly in adult women, but also in men and children.
Any skin site may be affected (and, rarely, the oral mucosa) but lichen sclerosus is most common in the anogenital area, where it causes intractable itching and soreness.
In children, the disorder may be confused with changes seen in sexual abuse. Progression to destructive scarring is common. There is increased risk of developing vulval
cancer, and there are links with penile cancer. Patients should be kept under long-term review. Lichen sclerosus can occur without symptoms, and the exact prevalence
is uncertain. It occurs most commonly in women at times of low sex hormone output. The underlying cause is unknown, but there seems to be a genetic susceptibility and
a link with autoimmune mechanisms. The wart virus and the spirochaete borrelia have been suggested but not substantiated as infective triggers. The Koebner
phenomenon is known to occur (lichen sclerosus occurs in skin already scarred or damaged), so trauma, injury, and sexual abuse have been suggested as possible
triggers of symptoms in genetically predisposed people. The treatment of choice for anogenital lichen sclerosus is potent topical corticosteroid ointment for a limited time.
Circumcision may be indicated in men, and surgery may be considered in women, to relieve effects of scarring or to treat coexisting carcinoma. Current research aims to
identify a treatable cause of lichen sclerosus, to identify patients at risk of scarring and of malignant disorders, and to find target pathways for therapeutic intervention.
Powell, J J; Wojnarowska, F. Lichen sclerosus. Lancet 353: 1777-1783, 1999
Lipodystrophy 脂肪失養症: a group of rare metabolic disorders which can be either inherited or acquired. They are characterized by abnormalities in fatty (adipose)
tissue associated with total or partial loss of body fat, abnormalities of carbohydrate and lipid metabolism, severe resistance to naturally occurring and synthetic insulin,
and immune system dysfunction. These disorders are differentiated by degrees of severity, and by areas or systems of the body affected. Lipodystrophies can also be
associated with other disorders and various developmental abnormalities.
Classical lissencephaly ( LIS) : Lissencephaly means "smooth brain," is a rare brain formation disorder characterized by the lack of normal convolutions (folds) in the
brain, and an abnormally small head (microcephaly). It is caused by defective neuronal migration, the process in which nerve cells move from their place of origin to their
permanent location. LIS also known as lissencephaly type I, is a brain malformation that may occur as an isolated abnormality (isolated lissencephaly sequence [ILS]) or

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 in association with certain underlying syndromes (i.e., Miller-Dieker and Norman-Roberts syndrome). The condition is characterized by incomplete development of the
folds (gyri) of the outer region of the brain (cerebral cortex), causing the brain�s surface to appear abnormally thickened (pachygyria) and unusually smooth (agyria). In
most newborns and infants with classical lissencephaly, the head circumference is smaller than would otherwise be expected (microcephaly). Additional abnormalities
typically include episodes of uncontrolled electrical disturbances in the brain (seizures), severe or profound mental retardation, feeding difficulties, growth retardation,
and impaired motor abilities. If an underlying syndrome is present, there may be additional symptoms and physical findings. According to researchers, changes
(mutations) of two different genes (known as LIS1 and XLIS) may cause isolated lissencephaly. In most cases, mutations of the LIS1 gene appear to occur
spontaneously (de novo) for unknown reasons. XLIS mutations may represent new genetic mutations; however, in most cases, the disorder appears to be transmitted as
an X-linked dominant trait. Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, and severe psychomotor retardation.
Anomalies of the hands, fingers, or toes, muscle spasms, and seizures may also occur. Lissencephaly may be associated with other diseases including isolated
lissencephaly sequence, Miller-Dieker syndrome, and Walker-Warburg syndrome.
The severe malformations of the brain in lissencephaly most likely will not respond to treatment. Normal supportive care may be needed to help with comfort and nursing
needs. Seizures may be controlled with medication. Progressive hydrocephalus (an excessive accumulation of cerebrospinal fluid in the brain) may require shunting. If
feeding becomes difficult, a gastrostomy tube may be considered.
Dobyns, W, and Truwit, C. Lissencephaly and Other Malformations of Cortical Development Neuropediatrics, 26:3; 132-147 (June 1995)
Gupte, G, et al. Lissencephaly Indian Pediatrics, 32:5; 593-596 (May 1995)
Pilz, D, and Quarrell, O. Syndromes with Lissencephaly Journal of Medical Genetics, 33:4; 319-323 (April 1996)
Reiner, O, et al. Lissencephaly Gene (L1S1) Expression in the CNS Suggests a Role in Neuronal Migration Journal of Neuroscience, 15:5; 3730-3738 (May 1995)
Listeriosis : a disorder caused by a bacterial infection (Listeria monocytogenes) transmitted to humans through contaminated food products, usually improperly pasteurized
milk or cheese. Some cases have been transmitted through contact with other infected persons or animals. Cases range in severity from a transient carrier state with no
apparent symptoms, to acute suddenly occurring (fulminant) spread of bacteria throughout the blood stream (septicemia). Many factors may contribute to development
of symptoms which are not well understood. However, prompt recognition and treatment of the disease is necessary to avoid complications
Locked In Syndrome : a rare neurological disorder characterized by complete paralysis of voluntary muscles in all parts of the body (except for those that control eye
movement). It is usually caused by lesions in the nerve centers that control muscle contractions, or a blood clot that blocks circulation of oxygen to the brain stem. It may
result from traumatic brain injury, vascular diseases, demyelinating diseases, or medication overdose. Individuals with locked-in syndrome are conscious and have
cognitive function, but are unable to speak or move. The disorder leaves the patient completely mute and paralyzed. Communication may be possible with blinking eye
movements.
There is no cure for locked-in syndrome, nor is there a standard course of treatment. Functional neuromuscular stimulation may help activate some paralyzed muscles.
Several devices to help communication are available. Other treatment is symptomatic and supportive.characterized by complete paralysis except for voluntary eye
movements.
Bradley, W, et al (eds). Neurology in Clinical Practice: Principles of Diagnosis and Management Butterworth-Heinemann, Boston, p. 40 (1996)
Joynt, R (ed). Clinical Neurology vol. 2, Chapter 19, J.B. Lippincott Co., Philadelphia, pp. 21-24 (1990)
Katz, R, et al. Long-Term Survival, Prognosis, and Life-Care Planning for 29 Patients with Chronic Locked-In Syndrome Archives of Physical and Medical Rehabilitation,
73; 403-408 (May 1992)
Mauss-Clum, N, et al. Locked-In Syndrome: A Team Approach Journal of Neuroscience Nursing, 23:5; 273-285 (October 1991)
Patterson, J, and Grabois, M. Locked-In Syndrome: A Review of 139 Cases Stroke, 17:4; 758-764 (July-August 1986)
Thoene, J (ed). Physicians? Guide to Rare Diseases Dowden Publishing Co., Inc., Montvale, NJ, p. 378 (1992)
Loken Senior Syndrome : a rare disorder inherited as an autosomal recessive genetic trait. This disorder is characterized by progressive wasting of the filtering unit of
the kidney (nephronophthisis), with or without medullary Cystic Disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of
life.
Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD) 長鏈醯基輔脢 A 脫氫脢缺乏症: a very rare inherited metabolic disorder
characterized by a deficiency of the enzyme long-chain acyl-CoA dehydrogenase, which is needed to break down fatty acids. Symptoms develop due to the inherited
enzyme deficiency. Characteristic features usually begin during infancy or early childhood and may continue to affect the individual into adulthood. Major symptoms may
include recurrent episodes of abnormally low blood glucose after fasting, without accumulation of ketone bodies in blood and body tissues (nonketotic hypoglycemia).
Coma may also occur after fasting. In the first few weeks of life infants with this disorder may feed poorly, vomit frequently, and not gain weight appropriately. Other
symptoms during acute episodes may include muscle weakness (hypotonia) and/or heart problems due to enlargement of the muscles of the heart (hypertrophic
cardiomyopathy).
Lowe Syndrome : also known as oculo-cerebro-renal syndrome, is a rare inherited metabolic disease that affects males. This disorder is characterized by lack of muscle
tone (hypotonia), multiple abnormalities of the eyes and bones, the presence at birth of clouding of the lenses of the eyes (cataracts), mental retardation, short stature,
and kidney problems. Other findings may include protrusion of the eyeball from the eye socket (enophthalmos); failure to gain weight and grow at the expected rate;
weak or absent deep tendon reflexes; and multiple kidney problems (e.g., renal tubular dysfunction, renal hyperaminoaciduria, etc.). Lowe Syndrome is inherited as an
X-linked genetic trait and symptoms develop due to lack of the enzyme phosphatidylinositol 4,5-biphosphate 5 phosphatase.
Lupus( Systemic Lupus Erythematosus, SLE 全身性紅斑性狼瘡；蝴蝶斑 ) : an autoimmune disease of the connective tissue. It's a disorder of the
immune system which normally functions to protect the body against invading infections and cancers. In lupus, the immune system is over-active and produces
increased amounts of abnormal antibodies that attack the patient?s own tissues. Lupus can affect many parts of the body, including the joints, skin, kidneys, lungs, heart,
nervous system, and blood vessels. The signs and symptoms of lupus differ from person to person, and the disease can range from mild to life-threatening. Typical
features of lupus include a butterfly shaped rash over the cheeks, a skin rash appearing in areas exposed to the sun, sores in the mouth and nose, arthritis involving one
or more joints, kidney inflammation, neurological disorders such as headaches, personality changes, organic brain syndrome, peripheral neuropathies, sensory
neuropathy, psychological problems including paranoia, mania, and schizophrenia, seizures, transverse myelitis, and paralysis and stroke. Fever, weight loss, hair loss,
poor circulation in the fingers and toes, chest pain when taking deep breaths, and abdominal pain may also occur.
There is no cure for lupus. Treatment is symptomatic. With a combination of medication, rest, exercise, proper nutrition, and stress management, most individuals with
lupus can often achieve remission or an amelioration of symptoms that improves their quality of life. Medications used in the treatment of lupus may include aspirin and
other nonsteroidal anti-inflammatory drugs, antimalarials, corticosteroids, and other immunosuppressants.
Lyelles Syndrome : a serious skin disorder characterized by severe redness, blisters and peeling. Onset can begin during any stage of life. The infantile form may follow
an infection. In adults the disorder is often caused by a drug reaction. Treatment of cases caused by infection may differ from those caused by drug reactions.
Lyme Disease : a bacterial infectious tick-( spirochete Borrelia burgdorfer ) itransmitted inflammatory disorder characterized by an early focal skin lesion, and
subsequently a growing red area on the skin (erythema migrans or EM). The disorder is often hard to diagnose because its symptoms and signs mimic those of many
other diseases. In its early stage, Lyme disease may be a mild illness with flu-like symptoms such as fever, chills, swollen lymph nodes, headaches, fatigue, muscle
aches, and joint pain. Symptoms appear within 7 to 10 days following the infected tick's bite. Many people bitten by an infected tick develop a large, expanding skin rash
around the area of the bite. The rash may feel hot to the touch, but is usually not painful. Rashes vary in size, shape, and color, but often have a "bull's eye" appearance
(a red ring with a clear center). Nervous system abnormalities may include numbness, pain, Bell's palsy (paralysis of the facial muscles), and meningitis symptoms such
as fever, stiff neck, and severe headache. Other problems, which may not appear until weeks, months, or years after a tick bite, include arthritis (especially in the knees)
and heart problems.
Lyme disease is treated with antibiotics under the supervision of a physician.

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 Asbury, et al (eds). Diseases of the Nervous System: Clinical Neurobiology W.B. Saunders Co., Philadelphia, pp. 1364-1369 (1992)
Bradley, W, et al (eds). Neurology in Clinical Practice: Principles of Diagnosis and Management Butterworth-Heinemann, Boston, pp. 1073-1074 (1991)
Coyle, P. Neurologic Lyme Disease Seminars in Neurology, 12:3; 200-208 (September 1992)
Finkel, M, and Halperin, J. Nervous System Lyme Borreliosis -- Revisited Archives of Neurology, 49; 102-107 (January 1992)
Lewis, R. Getting Lyme Disease to Take a Hike FDA Consumer, Food and Drug Administration, Rockville, MD, pp. 5-8 (June 1994)
Malawista, S. Lyme Disease In Cecil Textbook of Medicine, 19th edition, W.B. Saunders Co., Philadelphia, pp. 1772-1777 (1992)
Lymphadenopathy, Angioimmunoblastic with Dysproteinemia (AILD) : a progressive immune system disorder possibly caused by viral infections,
chronic stimulation of immune responses or drug treatments prescribed for other conditions. This disorder occurs mostly among persons over 50 years of age. Fever,
chills, sweating, a general feeling of discomfort, weight loss, and/or skin rashes are the major symptoms. In some cases, AILD may evolve into a severe form of
lymphoma (a type of cancer).
Lymphangioleiomyomatosis (LAM) : a very rare progressive lung disease (airway and interstitial) that affects females of childbearing age. The disease is
characterized by the abnormal growth of smooth muscle, leading to airway obstruction and cystic lesions (blebs) in the lungs. The symptoms of
Lymphangioleiomyomatosis may include shortness of breath, coughing, and/or difficulty breathing (dyspnea), especially following periods of exercise or exertion.
Affected individuals may experience repeated episodes of chest pain due to fluid accumulation around the lungs (pleural effusion). Collapse of a lung (pneumothorax) is
also common in females with this disorder. The exact cause of Lymphangioleiomyomatosis is not known.
Lymphangioma, Cavernous : also known as lymphatic malformations, are abnormal, localized or generalized growths consisting of newly formed, enlarged (dilated)
lymphatic vessels. These relatively common benign (noncancerous) tumors of childhood are almost always evident by about three years of age and most commonly
develop in the facial and neck (cervical) region, under the arms (axillae), or in the chest region (thorax). Lymphangiomas may occur as an isolated condition or in
association with certain underlying chromosomal abnormalities or genetic syndromes.
Lymphedema, Hereditary : an inherited disorder of the lymphatic system that is characterized by abnormal swelling of certain parts of the body. The lymphatic system
is a circulatory network of vessels, ducts, and nodes that filter and distribute certain fluid (lymph) and blood cells throughout the body. Lymphatic fluid collects in the soft
tissues in and under the skin (subcutaneous) due to the obstruction, malformation, or underdevelopment (hypoplasia) of various lymphatic vessels. There are three
forms of Hereditary Lymphedema: Congenital Hereditary Lymphedema or Milroy Disease, Lymphedema Praecox or Meige Disease, and Lymphedema Tarda. In most
cases, Hereditary Lymphedema is inherited as an autosomal dominant genetic trait.
Lymphocytic Infiltrate of Jessner : a skin disorder characterized by benign accumulations of lymph cells in the skin. These small lesions are solid, pink or red in
color, and appear on the face, neck, and/or back. Skin surrounding these lesions is itchy and reddened. The lesions may remain unchanged for several years and then
spontaneously disappear leaving no scars.
Lymphoma, Gastric, Non Hodgkins Type : a rare form of stomach cancer characterized by unrestrained growth of certain lymphoid cells of the stomach. This form
of cancer is thought to arise from certain white blood cells (lymphocytes) within lymphoid tissue of the stomach's mucous membrane (mucosa). Non-Hodgkins Type
Gastric Lymphoma may be a primary disease process (primary lymphoma) or may develop due to another underlying lymphoma. Symptoms and findings associated
with Non-Hodgkins Type Gastric Lymphoma may include pain, bleeding, obstruction of, and/or the development of a hole in the wall of the stomach (perforation). In
many affected individuals, an abnormal mass may be felt (palpable) in the upper middle (epigastric) region of the abdomen. Non-Hodgkins Type Gastric Lymphoma
affects males more often than females and usually appears to occur during middle age. According to the medical literature, Non-Hodgkins Type Gastric Lymphoma
tends to occur an average of approximately 10 years earlier than gastric adenocarcinoma, a more common form of stomach cancer.
Lynch Syndromes : are rare hereditary disorders that usually cause cancer to develop either in the colorectal area or in other sites. Primary cancers may develop in the
female genital tract, stomach, brain, breasts, or urological system. The cancers of the colorectal area associated with the Lynch Syndromes usually develop at a younger
age than is normally found in other persons with colorectal cancer.

M
Macroglossia : the abnormal enlargement of the tongue. In rare cases, macroglossia occurs as an isolated finding that is present at birth (congenital). In many cases,
macroglossia may occur secondary to a primary disorder or a tumor of the tongue. Symptoms and physical findings associated with macroglossia may include noisy,
high-pitched breathing (stridor), snoring, and/or feeding difficulties. In some cases, the tongue may protrude from the mouth. Macroglossia is thought to be inherited as
an autosomal dominant genetic trait.

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Macular Degeneration : a common hereditary eye (retinal) disorder with several subdivisions: Behr 1 (infantile optic atrophyataxia) Behr 2 (adult or presenile macula
lutea retinae degeneration) Stargardt's disease (juvenile macular degeneration) Macular Degeneration, senile Macular Degeneration, disciform This disorder is
characterized by a gradual bilateral decrease of vision. Although usually inherited as a dominant trait, a recessive type (Stargardt's disease) is a possible form of central
Retinitis Pigmentosa with macular degeneration. Ordinary RP does not affect the macula. X-linked hereditary macular dystrophy can be observed in males with color
blindness. Macular degeneration can be a static condition for many years but then becomes slowly progressive. Senile macular degeneration patients may be
mislabeled as colorblind. This form of the disease could also be associated with neurological dysfunction.
Macular Degeneration, Polymorphic : a dominant hereditary vision disorder that includes Best Disease and Sorsby Disease. Best disease is also called vitelline
macular dystrophy. The disorder affects both eyes and is usually diagnosed between five and fifteen years of age. Sorsby disease is also called macular cyst, or cystoid
macular degeneration. Symptoms usually begin between 20 and 40 years of age. This form of the disorder is marked by impairment of vision, possible color vision
abnormality, and can be progressive in nature.
Madelung's Disease : a disorder of fat metabolism (lipid storage) that results in an unusual accumulation of fat deposits around the neck and shoulder areas. Adult
alcoholic males are most often affected, although women and those who do not drink alcohol can also get Madelung's Disease.
Maffucci Syndrome : a rare genetic disorder characterized by benign overgrowths of cartilage (enchondromas), skeletal deformities, and dark red irregularly shaped
patches of skin (hemangiomas). Enchondromas are most often found in certain bones (phalanges) of the hands and feet. Skeletal malformations may include legs that
are disproportionate in length and/or abnormal side-to-side curvature of the spine (scoliosis). In many cases, bones may tend to fracture easily. In most cases,
hemangiomas appear at birth or during early childhood and may be progressive. Maffucci Syndrome is inherited as an autosomal dominant genetic trait.
Malaria : a communicable parasitic disorder spread through the bite of the Anopheles mosquito. Major symptoms may vary depending on which species of parasite causes
the infection and the stage of development of the parasite. Chills and fever commonly occur, although not every case follows the same pattern. Each recurrence
becomes milder. Although the disorder was once thought to be under control throughout the world, Malaria is a wide spread infection especially in the tropics where
certain types of mosquitos are becoming resistant to pesticides. The annual number of cases reported in the United States has increased in recent years.
Malignant Hyperthermia (MH) : an inherited disorder in which affected individuals do not react appropriately to certain general anesthetia drugs such as halothane,
cyclopropane, and the muscle relaxant succinylcholine. This disorder is charactericized by the development of a sudden and rapid high fever, muscle rigidity, and an
irregular heartbeat (cardiac arrhythmia), after the administration of general anesthesia or certain muscle relaxants. Malignant Hyperthermia is inherited as an autosomal
dominant trait. Once a person is diagnosed with Malignant Hyperthermia, their relatives should be tested to determine if they also have the disorder.
Mallory Weiss Syndrome : characterized by a laceration of the mucous membrane in the junction between the esophagus and the stomach (gastroesophageal). It is
usually caused by severe vomiting and can lead to rupturing and loss of blood (hemorrhaging) from certain blood vessels of the gastrointestinal tract.
Manic Depression, Bipolar 雙極性躁鬱症: a mental illness in which intense mood swings occur, usually with remissions and recurrences. Depressive
symptoms may be most common and can last at least a full day and perhaps several weeks or longer. Manic symptoms may involve hyperactivity and feelings of
invincibility, happiness and restlessness.
Mannosidosis 甘露糖肝貯積症: a genetic disorder characterized by a lysosomal enzyme deficiency resulting in progressive mental and physical deterioration. A
deficiency of the enzyme alpha-D-mannosidase causes the symptoms of this disorder which can vary in severity. Symptoms of the most severe form may begin within
the first year of life while a milder form may begin during juvenile or adult years.
Maple Syrup Urine Disease 楓糖尿病: an extremely rare inherited metabolic disorder characterized by a distinctive sweet odor of the urine and sweat. Symptoms
develop because of the body's inability to properly break down (metabolize) leucine, isoleucine, and valine. These are organic substances found in proteins (branched
chain amino acids). Life-threatening complications that may occur in a newborn include the abnormal accumulation of acid in the blood and other tissues of the body
(metabolic acidosis) and seizures. If left untreated, Maple Syrup Urine Disease may progress to coma.
Marcus Gunn Phenomenon : a rare genetic disorder that is usually present at birth. It is characterized by the rapid rising motion of the upper eyelid of one eye upon
movement of the jaw. Other eye abnormalities and vision difficulties may also occur. The exact cause of this phenomenon is not known.
Marden Walker Syndrome : a rare connective tissue disorder that is inherited as an autosomal recessive trait. Patients with this disorder typically have a distinct face, a
cleft or high-arched palate, bone joints in a fixed position, growth delay and limited control of muscle movement. Marden-Walker Syndrome affects males more often
than females.
Marfan Syndrome : an inherited autosomal dominance disorder that affects the connective tissues of the heart and blood vessels (cardiovascular system). The
musculoskeletal system (ligaments and muscles) is also affected. Major symptoms also include unusual height, large hands and feet, and involvement of the lungs and
the eyes. It is a mutation of fibrillin-1 gene ( FBN1) on chromosone 15.
De Paepe, Anne . Dural ectasia and the diagnosis of Marfan’s syndrome. Lancet 354: 878-879, 1999
Marinesco Sjogren Syndrome : a rare disorder that is inherited through autosomal recessive genes. The major features of this disorder are a loss of muscle
coordination as a result of disease in the cerebellum (cerebellar ataxia), loss of clearness in the eyes' lenses (cataract), increased muscle tension (spasticity),
progressive muscle weakness, and mental deficiency.
Maroteaux Lamy Syndrome 馬洛托- 拉米氏症( 黏多醣症第六型 ): Mucopolysaccharidoses are a group of rare genetic disorders caused by the
deficiency of one of ten specific lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules. The
accumulation of these large, undegraded mucopolysaccharides in the cells of the body causes a number of physical symptoms and abnormalities. Maroteaux-Lamy
Syndrome (MPS Type VI) occurs in three types: a classic severe type, an intermediate type, and a mild type. The syndrome is characterized by a deficiency in the
enzyme arylsulfatase B (also called N- acetylgalactosamine-4-sulfatase), which leads to an excess of dermatan sulfate in the urine. In general, growth retardation occurs
from two to three years of age, with coarsening of facial features and abnormalities in the bones of hands and spine. Joint stiffness also occurs. The intellect is usually
normal.
Marshall Smith Syndrome : characterized by unusually quick physical growth and bone development (maturation), usually starting before birth. Other symptoms can
include respiratory difficulties, mental retardation, and certain physical characteristics. (Note: Marshall-Smith Syndrome is not to be confused with "Marshall" Syndrome,
which is very different from "Marshall-Smith" Syndrome.)
Marshall Syndrome : a rare genetic disorder. Major symptoms may include a distinctive face with a flattened nasal bridge and nostrils that are tilted upward, widely
spaced eyes, nearsightedness, cataracts and hearing loss. Marshall Syndrome is inherited as an autosomal dominant trait.
MASA Syndrome : an extremely rare inherited disorder that is one of several disorders known as X-linked mental retardation (XLMR) syndromes. The acronym MASA
stands for (M)ental retardation, (A)phasia, a diminished ability to communicate by speech, writing, and/or signs, (S)huffling manner of walking (gait), and (A)dducted
thumbs, thumbs that are flexed inward toward the palm. Shuffling gait may be due to impaired control of voluntary movements and progressive rigidity of muscles in the
legs (spastic paraplegia). Adduction of the thumbs may be due to absence or underdevelopment (hypoplasia) of certain muscles (extensor pollicis longus and/or brevis
muscles) of the hand near the thumb. The symptoms and physical findings associated with MASA syndrome vary greatly from case to case. Affected individuals may
not experience all of the main characteristics described above and may exhibit various other symptoms and physical findings such as abnormal widening (dilatation) of
cavities (ventricles) within the brain and accumulation of excessive cerebrospinal fluid in the skull (hydrocephalus), mild short stature, abnormally increased inward
curvature of the lower spine (exaggerated lumbar lordosis), and/or other skeletal abnormalities. According to the medical literature, mental retardation is the only feature
that has been present in all documented cases of the disorder. MASA syndrome is inherited as an X-linked recessive genetic trait. Therefore, the disorder is usually
fully expressed in males only. However, some females who carry one copy of the gene (heterozygotes) do appear to fully express the disease, while some others may
exhibit only some milder symptoms associated with the disorder such as dull intelligence and/or adducted thumbs.
Mastocytosis : a rare disorder characterized by abnormal accumulations of mast cells in skin, bone marrow, and internal organs such as the liver, spleen and lymph nodes.
Cases beginning during adulthood tend to involve the inner organs in addition to the skin whereas, during childhood, the condition is often marked by skin manifestations
with minimal or no organ involvement. When there is evidence of bone marrow or internal organ involvement, the disease is referred to as "systemic mastocytosis".
Although the majority of cases follow an indolent course, some patients may have evidence of a blood disorder such as a myelodysplastic or myeloproliferative disorder
at the time of diagnosis. The course and prognosis of mastocytosis in these patients are determined by this associated hematologic disorder. More aggressive forms of

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 mastocytosis and mast cell leukemias are very rarely encountered.
Maxillofacial Dysostosis : a rare disorder inherited as an autosomal dominant trait. Major characteristics include an underdeveloped upper jaw, delayed speech as well
as poor articulation, down-slanting of the eyelids, and malformations of the external ear.
Maxillonasal Dysplasia, Binder Type : a rare disorder that may occur for no apparent reason (sporadically) or may be inherited as an autosomal dominant or
autosomal recessive genetic trait. Individuals affected with this disorder have distinct facial features that typically include a small, flat, low-set nose and a protruding chin.
Crossed eyes, cleft lip and palate, as well as abnormalities of the cervical spine have also been found in some affected affected individuals.
May Hegglin Anomaly : a rare inherited blood platelet disorder characterized by abnormally large and misshapen platelets and defects of specialized white blood cells
known as leukocytes. Some people with this disorder may have no symptoms while others may have various bleeding abnormalities. In mild cases treatment for
May-Hegglin Anomaly is not usually necessary. In more severe cases transfusions of blood platelets may be necessary.
McArdle Disease 麥克阿德氏病( 肝醣貯積症第五型 ): a glycogen storage disease. Symptoms of this hereditary metabolic disorder are caused by an
inborn lack of the enzyme myophosphorylase. This enzyme is needed for the breakdown of glycogen (the body's form of stored energy) into sugar (glucose) in muscle
tissues. In McArdle Disease the breakdown of glucose cannot take place. Severe muscle cramps occur as a result of heavy exercise.
McCune Albright Syndrome(MAS) : a rare multisystem disorder characterized by the displacement of normal bone tissue with areas of abnormal fibrous growth
(polyostotic fibrous dysplasia). Such fibrous bony areas (lesions) may develop in many bones of the body, causing impaired mobility, pain, and/or, in some cases,
hearing and/or visual impairment. MAS is also characterized by patches of abnormal skin pigmentation (i.e., large, light brown discolorations on the skin [cafe-au-lait
spots] with jagged borders) and/or abnormalities of certain hormone-producing glands that help to regulate the rate of growth, sexual development, and certain metabolic
functions (multiple endocrine dysfunction). For example, in many affected individuals, endocrine dysfunction may result in premature development of secondary sexual
characteristics (precocious puberty). McCune-Albright Syndrome is due to a genetic change (mutation) that occurs randomly, for no apparent reason (sporadic). In
individuals with the disorder, this sporadic genetic mutation is present in only some of the body's cells (mosaic pattern). The symptoms and physical characteristics
associated with the disorder may vary greatly from case to case, depending upon the specific body cells and tissues that are affected by the genetic mutation. Because
this mutation occurs after fertilization (postzygotic somatic mutation), it is not inherited from the parents.
McKusick Type Metaphyseal Chondrodysplasia : a rare progressive inherited disorder characterized by unusually fine, sparse hair and short stature with
abnormally short arms and legs (short-limbed dwarfism). Portions of the long bones of the arms and legs develop abnormally with unusual cartilage formations and
subsequent abnormal bone formation at the large (bulbous) end portions (metaphyses) of these long bones (metaphyseal chondrodysplasia). In addition, most
individuals with McKusick Type Metaphyseal Chondrodysplasia may exhibit impairment of specialized cells (T-cells) that play an important role in helping the body's
immune system to fight infection (cellular immunodeficiency). Affected individuals may also have abnormally low levels of certain white blood cells (neutropenia and
lymphopenia); low levels of circulating red blood cells (anemia); and/or increased susceptibility to certain infections, such as chickenpox. In some cases, affected infants
may also exhibit improper intestinal absorption of certain necessary nutrients (malabsorption) and/or dental abnormalities such as unusually small teeth (microdontia).
Some individuals with the disorder may also have additional physical abnormalities. The range and severity of symptoms vary widely from case to case. McKusick Type
Metaphyseal Chondrodysplasia is inherited as an autosomal recessive genetic trait.
Measles 麻疹: a highly contagious disease occurring primarily in children. This disease is characterized by fever, cough, acute nasal mucous membrane discharge
(coryza), inflammation of the lining of the eyelids (conjunctivitis), a spreading rash, and eruption of small, irregular, bright red spots (Koplik's spots) on the inner cheeks in
the mouth with a minute bluish or white speck in the center of each. Because measles can be contracted from someone whose symptoms have not yet appeared, it is
often difficult to avoid exposure. Measles ceases to be contagious four days after appearance of the rash. Although concerted efforts have been made to eliminate
measles in the United States, increasing numbers of cases have been reported recently in some areas. This may be due in part to a drastic rise in the cost of vaccine,
shortage of supplies due to liability insurance problems, or fear by the public of possible side effects of vaccines. This is in spite of strict observance of
immunization/attendance requirements by school officials. However, parents may underestimate the need for this immunization. Usually measles and the danger of its
complications can be avoided by timely immunization.
Meckel Syndrome : a rare inherited disorder. Major symptoms may include, congenital deformities of the brain resulting in mental retardation. Malformations of the hands
and feet, and bone deformities of the arms and legs may also occur. In males genitals may fail to develop properly. Kidney, pancreas and liver may also be abnormal.
Mediterranean Fever, Familial(FMF) 家族性地中海熱病: a rare, inherited, inflammatory disease characterized by recurrent attacks of fever and acute
inflammation of the membranes that line the abdominal cavity (peritonitis) and/or the lungs (pleuritis); pain and swelling of the joints (arthritis); and/or the heart
(pericarditis) and, in some cases, skin rashes. In addition, some affected individuals may experience a serious complication known as amyloidosis, which is
characterized by abnormal accumulation of a fatty-like substance (amyloid) in various parts of the body. If amyloid accumulates in the kidneys (renal amyloidosis), kidney
function may be impaired and life-threatening complications may occur. In most instances, but not exclusively, FMF affects persons of Mediterranean origin such as
Sephardic Jews, Arabs, Armenians, and Turks. FMF is thought to be inherited as an autosomal recessive genetic trait. The causative gene on the short arm of
chromosome 16 has been cloned. It is caused by mutation in MEFV gene encoding a protein that has been call in pyrin or marenostrin, which is apparently expressed
only in neutrophils.
Tunca, Mehmet; Kirkali, Guldal; de Soyturk, Muj; Akar, Servet; Pepys, Mark B; et. al.Acute phase response and evolution of familial Mediterranean fever. Lancet 353:
1415, 1999
Medium Chain Acyl CoA Dehydrogenase Deficiency(MCAD) 中鏈醯基輔脢 A 脫氫脢缺乏症: a very rare inherited metabolic disorder
characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase. This enzyme is found to be most active in the liver, certain white blood cells
(leukocytes), and certain connective tissue cells (fibroblasts) and is necessary for the breakdown (oxidation) of certain fats (medium chain fatty acids). Failure to break
down these fats can lead to the abnormal accumulation of fatty acids in the liver and the brain. Abnormally low levels of the MCAD enzyme may also hamper or interrupt
other processes associated with the metabolism of fatty acids. In infants with MCAD Deficiency, symptoms may include recurrent episodes of unusually low levels of a
certain sugar (glucose) in the blood (hypoglycemia), lack of energy (lethargy), vomiting, and/or liver malfunction. These symptoms are most frequently triggered when an
affected infant does not eat for an extended period of time (fasting). In some cases, a viral illness (e.g., upper respiratory infection) that limits food intake may cause the
symptoms to occur. MCAD Deficiency is the most common disease in a group of disorders that involve abnormalities of fatty acid metabolism. Medium Chain Acyl-CoA
Dehydrogenase Deficiency is inherited as an autosomal recessive genetic trait.
Medullary Cystic Disease : a rare inherited kidney disease (nephropathy) characterized by excessive amounts of urea and other waste products in the urine (uremia).
Impairment of kidney function occurs due to the development of numerous cysts deep within the kidneys (medulla). In most cases, the first symptoms of this disorder
appear during childhood or adolescence (Familial Juvenile Nephronophthisis). This form of the disease is inherited as an autosomal recessive genetic trait. Other
affected individuals may not experience any symptoms or onset of symptoms may occur later in adulthood. This type of the disease is inherited as an autosomal
dominant genetic trait. People with Medullary Cystic Disease typically pass large volumes of urine (polyuria) that contain abnormally high levels of salt (sodium-wasting).
Medullary Cystic Disease is the second most common cause of chronic kidney failure during childhood. Approximately 15 percent of people with Medullary Cystic
Disease also experience visual impairment caused by degeneration of the retina of the eyes (Renal-Retinal Dysplasia).
Medullary Sponge Kidney : a rare disorder characterized by the abnormal widening (dilatation) of the tubular structures within the kidneys (tubules) that collect urine.
The initial symptoms of this disorder may include excessive urination (polyuria) and/or burning and pain while urinating. Calcium stones may form within the kidneys
(nephrolithiasis) and blood may be present in the urine (hematuria). The exact cause of Medullary Sponge Kidney is not known.
Medulloblastoma : a tumor in the cerebellum (a part of the brain), located in the lower rear portion of the skull (posterior fossa). About half of medulloblastomas are
confined to the connecting bridge between the two halves of the cerebellum (vermis), and the other half actually invade the cerebellum or the brainstem (pons and
medulla).
Megalocornea Mental Retardation Syndrome : an extremely rare genetic disorder characterized by distinctive abnormalities of the eyes, diminished muscle tone
that is apparent at birth (congenital hypotonia), and varying degrees of mental retardation. In some cases, additional abnormalities may also be present. The range and
severity of symptoms and physical findings may vary from case to case. In most infants with Megalocornea-Mental Retardation Syndrome, the front, clear portion of
the eyes through which light passes may be abnormally large (megalocornea). Both eyes are usually affected (bilateral involvement). Many affected infants also have
additional eye (ocular) abnormalities including underdevelopment of the colored portion of the eyes (iris hypoplasia), abnormal "unsteadiness" of the irises during eye

67
 movements (iridodonesis), and/or other ocular abnormalities, potentially leading to varying degrees of visual impairment. In addition to abnormally diminished muscle
tone (hypotonia), most affected infants also have additional neuromuscular abnormalities including abnormal delays in the acquisition of skills requiring the coordination
of mental and muscular activities (psychomotor retardation) and/or an impaired ability to coordinate voluntary movements (ataxia). In most cases, affected infants and
children also have moderate to severe mental retardation. In some cases, infants and children with Megalocornea-Mental Retardation Syndrome may have additional
abnormalities including short stature; episodes of uncontrolled electrical disturbances in the brain (seizures); and/or certain distinctive abnormalities of the head and
facial (craniofacial) area. Such craniofacial malformations may include an unusually prominent forehead (frontal bossing), widely spaced eyes (ocular hypertelorism), a
long upper lip, an abnormally small lower jaw (hypoplastic mandible), and/or unusually large and/or "cup-shaped" ears. In most cases, Megalocornea-Mental Retardation
Syndrome appears to occur randomly for unknown reasons (sporadically). In other cases, the disorder is thought to be inherited as an autosomal recessive genetic trait.
Meige Syndrome : a rare neurological movement disorder (dyskinesia) characterized by spasms of the muscles of the eyelids and associated loss of tone in these eyelid
muscles. Symptoms may include excessive blinking (blepharospasm) or involuntary eyelid closure. On occasion, the muscles of the face may also be involved. The
exact cause of Meige Syndrome is not known. This disorder generally affects people during late middle age.
Melanoma, Malignant : a common skin cancer that arises from the melanin cells of the upper layer of the skin (epidermis) or from similar cells that can be found in
moles (nevi). This type of skin cancer may send down roots into deeper layers of the skin. Some of these microscopic roots can spread (metastasize) causing new tumor
growths in vital organs of the body.
MELAS Syndrome MELAS 症候群( 一種粒腺體疾病) : one of a group of rare muscular disorders that are called mitochondrial encephalomyopathies.
Mitochondrial encephalomyopathies are disorders in which a defect in genetic material arises from a part of the cell structure that releases energy (mitochondria)
resulting in disease of the brain and muscles (encephalomyopathies). This mitochondrial defect as well as "ragged red fibers" (an abnormality of muscle tissue when
viewed under a microscope) are typically present. The most characteristic symptom of MELAS Syndrome is recurring, stroke-like episodes in which there are sudden
headaches followed by vomiting and seizures. Short stature, an accumulation of lactic acid in the blood (lactic acidosis), and muscular weakness on one side of the body
(hemiparesis) are typically present. Visual symptoms may include: impaired vision or blindness in one half of the visual field (hemianopsia), and/or blindness due to
lesions in the area of the brain concerned with vision (cortical blindness). Although the exact cause of MELAS Syndrome is not fully understood, it has been found to run
in families (familial).
Meleda Disease : an extremely rare inherited skin disorder characterized by the slowly progressive development of dry, thick patches of skin on the palms of the hands
and soles of the feet (palmoplantar hyperkeratosis). Affected skin may be unusually red (erythema) and become abnormally thick and scaly (symmetrical cornification).
Affected children may also exhibit various abnormalities of the nails; excessive sweating (hyperhidrosis) associated with an unpleasant odor; and/or, in some cases,
development of small, firm raised lesions (lichenoid plaques). The range and severity of symptoms may vary from case to case. Meleda Disease is thought to be
inherited as an autosomal recessive genetic trait.
Melkersson Rosenthal Syndrome : a rare neurological disorder. Recurrent swelling (edema) of the face, especially the lip, is accompanied by intermittent paralysis
and a fissured tongue (lingua plicata). This disorder usually begins during childhood.
Melnick Needles Syndrome : a genetic disorder characterized by abnormal bone development. Prominent eyes, an extremely small lower jaw, bowing of the bones in
the arms and legs, and other bone abnormalities may occur.
Meniere Disease : a disorder characterized by recurrent prostrating dizziness (vertigo), possible hearing loss and ringing sounds (tinnitus). It is associated with dilation of
the membranous labyrinth (endolymphatic hydrops) in the ear.
Meningioma : benign, slow-growing tumors, classified as brain tumors, but actually growing in the three protective membranes that surround the brain (meninges).
Sometimes they cause thickening or thinning of adjoining skull bones. Meningiomas do not spread to other areas of the body.
Meningitis : characterized by inflammation of the membranes (meninges) around the brain or spinal cord. The disorder can occur in three different forms: adult, infantile,
and neonatal. This inflammation may be caused by different types of bacteria, viruses, fungi, or malignant tumors. Chemical reactions to certain injections into the spinal
canal can also cause Meningitis. This inflammation can begin suddenly (acute) or develop gradually (subacute). Adult forms of Meningitis are characterized by fever,
headache, and a stiff neck, sometimes with aching muscles. Nausea, vomiting and other symptoms may occur. Treatment with antibiotics is usually effective against the
infection.
Meningitis, Bacterial : a central nervous system disease caused by certain types of bacteria. Meningitis is characterized by inflammation of the membranes (meninges)
around the brain or spinal cord. Inflammation can begin suddenly (acute) or develop gradually (subacute). Major symptoms may include fever, headache, and a stiff neck,
sometimes with aching muscles. Nausea, vomiting and other symptoms may occur.
Meningitis, Meningococcal : a form of meningitis caused by a specific bacteria known as Neisseria meningitidis. Meningitis is characterized by inflammation of the
membranes (meninges) around the brain or spinal cord. This inflammation can begin suddenly (acute) or develop gradually (subacute). Symptoms may include fever,
headache, and a stiff neck, sometimes with aching muscles. Nausea, vomiting and other symptoms may occur. Skin rashes occur in about half of all patients with
Meningococcal Meningitis. Treatment with antibiotics and other drugs is usually effective against this infection.
Meningitis, Tuberculous(TBM) : a form of meningitis characterized by inflammation of the membranes (meninges) around the brain or spinal cord and caused by a
specific bacterium known as Mycobacterium tuberculosis. In TBM, the disorder develops gradually. Treatment with antibiotics and other drugs is usually effective against
the infection.
Meningococcemia : a rare infectious disease characterized by upper respiratory tract infection, fever, skin rash and lesions, eye and ear problems, and possibly a
sudden state of extreme physical depression (shock) which may be life-threatening without appropriate medical care. There are two forms of meningococcemia.
Fluminant meningococcemia develops very rapidly and is more severe than chronic meningococcemia, which has a waxing and waning course.
Menkes Disease : a progressive, genetic, neurodegenerative disorder of copper metabolism, beginning before birth. It is characterized by seizures, psychomotor
deterioration, failure to thrive, temperature instability (hypothermia), and strikingly peculiar hair. Copper accumulates in excessive amounts in the liver and is deficient in
most other tissues of the body, causing structural changes in the hair, brain, bones, liver, and arteries. The characteristic kinky hair is stubby, tangled, sparse, or steely
and is easily broken. It is often white, ivory, or gray in color. Brain abnormalities such as a blood clot at the base of the brain (subdural hematoma) and/or rupture or
thrombosis of arteries in the brain may occur. Weakened bones (osteoporosis) may result in fractures. Menkes disease primarily affects males. Affected infants may be
born prematurely. In some cases, early symptoms may resolve, and normal or slightly slowed development may proceed for 2 to 3 months. At approximately three
months of age, severe, developmental delay, loss of early development skills, and convulsions may occur.
Early treatment with intravenous or oral copper supplements may be of some benefit. Other treatment is symptomatic and supportive.
Magalini, S, et al (eds). Dictionary of Medical Syndromes. 3rd edition, J.B. Lippincott Co., Philadelphia, p. 534 (1997).
Bradley, W, et. al. (eds). Neurology in Clinical Practice: The Neurological Disorders. vol. II, 2nd edition, Butterworth-Heinemann, Boston, pp. 1522-1523 (1996).
Rowland, L. (ed). Merritt's Textbook of Neurology. 9th edition, Williams & Wilkins, Baltimore, pp. 585, 589 (1995).
Singh, R, and Tapper, J. Menkes' Kinky Hair Syndrome. Wisconsin Medical Journal, 41; 39-40 (1992).
Thoene, J. (ed). Physicians' Guide to Rare Diseases. Dowden Publishing Co., Inc., Montvale, NJ, pp. 226-227 (1992).
Menkes, J. Kinky Hair Disease: Twenty Five Years Later. Brain and Development, 10:2; 77-79 (1988).
MERRF Syndrome MERRF 症候群( 一種粒腺體疾病) ( Myoclonus Epilepsy Associated with Ragged-Red Fibers) : one of a group of
rare muscular disorders that are called mitochondrial encephalomyopathies. Mitochondrial encephalomyopathies are disorders in which a defect in the genetic material
arises from a part of the cell structure that releases energy (mitochondria). This can cause a dysfunction of the brain and muscles (encephalomyopathies). The
mitochondrial defect as well as "ragged-red fibers" (an abnormality of tissue when viewed under a microscope) are always present. The most characteristic symptom of
MERRF Syndrome is myoclonic seizures which are usually sudden, brief, jerking, spasms that can affect the limbs or the entire body. An impairment in the ability to
coordinate movements (ataxia), as well as an accumulation of lactic acid in the blood (lactic acidosis) are also be present in affected individuals. Difficulty speaking
(dysarthria), optic atrophy, short stature, hearing loss, dementia, and involuntary jerking of the eyes (nystagmus) may also occur.
Mesenteritis, Retractile : also known as Mesenteric Panniculitis, is a disorder that affects the digestive tract membranes. It is characterized by infection, inflammation
and intestinal obstructions. Major symptoms include abdominal pain, nausea, vomiting, weight loss, and fever.
Metachromatic leukodystrophy (MLD) : a genetic disorder caused by a deficiency of the enzyme arylsulfatase A. It is one of a group of genetic disorders called the
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 leukodystrophies that affect growth of the myelin sheath, the fatty covering -which acts as an insulator - on nerve fibers in the brain. There are three forms of MLD: late
infantile, juvenile, and adult. In the late infantile form, which is the most common, onset of symptoms begins between ages 6 months and 2 years. The infant is usually
normal at birth, but eventually loses previously gained abilities. Symptoms include hypotonia (low muscle tone), speech abnormalities, loss of mental abilities, blindness,
rigidity (uncontrolled muscle tightness), convulsions, impaired swallowing, paralysis, and dementia. Symptoms of the juvenile form begin between ages 4 and 14, and
include impaired school performance, mental deterioration, ataxia, seizures, and dementia. In the adult form, symptoms, which begin after age 16, may include impaired
concentration, depression, psychiatric disturbances, ataxia, tremor, and dementia. Seizures may occur in the adult form, but are less common than in the other forms. In
all three forms mental deterioration is usually the first sign.
There is no cure for MLD. Bone marrow transplantation may delay progression of the disease in some cases. Other treatment is symptomatic and supportive.
Baumann, N, et al. Adult Forms of Metachromatic Leukodystrophy: Clinical and Biochemical Approach Developmental Neuroscience, 13; 211-215 (1991)
Bradley, W, et al (eds). Neurology in Clinical Practice: The Neurological Disorders vol. II, 2nd edition, Butterworth-Heinemann, Boston, pp. 1555-1556, 1910 (1996)
Menkes, J. The Leukodystrophies The New England Journal of Medicine, 322:1; 54-55 (January 4, 1990)
Rowland, L (ed). Merritt's Textbook of Neurology 9th edition, Williams & Wilkins, Baltimore, pp. 558-560 (1995)
Wenger, D. Research Update on Lysosomal Disorders with Special Emphasis on Metachromatic Leukodystrophy and Krabbe Disease APMIS, Suppl 40:101; 81-87
(1993)
Wyngaarden, J, et al (eds). Cecil Textbook of Medicine 19th edition, W.B. Saunders Co., Philadelphia, pp. 2200-2201 (1992)
Metatropic Dysplasia I : a rare genetic disorder characterized by extremely small stature, with short arms and legs. Other characteristics of this disorder are a narrow
thorax, short ribs, and kyphoscoliosis (backward and sideways curvature of the spinal column) which develops into short trunk dwarfism.
Microcephaly : a rare, neurological disorder in which the circumference of the head is smaller than the average for the age and gender of the infant or child. Microcephaly
may be congenital (present at birth) or it may develop in the first few years of life. The disorder may stem from a wide variety of conditions that cause abnormal growth of
the brain, and is often a symptom of syndromes associated with chromosomal abnormalities. Infants with microcephaly are born with either a normal or reduced head
size. Subsequently the head fails to grow while the face continues to develop at a normal rate, producing a child with a small head, a large face, a receding forehead,
and a loose, often wrinkled scalp. As the child grows older, the smallness of the skull becomes more obvious, although the entire body also is often underweight and
dwarfed. Development of motor functions and speech may be delayed. Hyperactivity and mental retardation are common occurrences, although the degree of each
varies. Convulsions may also occur. Motor ability varies, ranging from clumsiness to spastic quadriplegia.
Generally there is no specific treatment for microcephaly. Treatment is symptomatic and supportive. A serious attempt should be made to identify associated congential
anomalies and to determine a specific cause of the disorder.
Badawi, N, Kurinczuk, J, Blair, E, Keogh, J, and Stanley, F. Early Prediction of the Development of Microcephaly After Hypoxic-ischemic Encephalopathy in the
Full-Term Newborn. (Letter) Pediatrics, 97:1; 151-152 (January 1996).
Leviton, A, Greene, M, and Allred, E. Maternal Metabolic Control and Risk of Microcephaly Among Infants of Diabetic Mothers. Diabetes Care, 18:2; 166-169 (1995).
Asbury, A, et. al. (eds). Diseases of the Nervous System: Clinical Neurobiology. vol. I, 2nd edition, W.B. Saunders Co., Philadelphia, pp. 618-621 (1992).
Dorman, C. Microcephaly and Intelligence. Developmental Medicine and Child Neurology, 33; 267-269 (1991).
Cowie, V. Microcephaly: A Review of Genetic Implications in its Causation. Journal of Mental Deficiency Research, 31; 229-233 (1987).
Goodman, R, and Gorlin R. The Malformed Infant and Child: An Illustrated Guide. Oxford University Press, New York, pp. 72-73 (1983).
Microvillus Inclusion Disease : an extremely rare inherited intestinal disorder (enteropathy) that is typically apparent within hours or days after birth. The disorder is
characterized by chronic, severe, watery diarrhea and insufficient absorption (malabsorption) of necessary nutrients due to incomplete development (hypoplasia) and/or
degeneration (atrophy) of certain cells of the wall of the small intestine (e.g., hypoplastic villus atrophy, defective brush-border assembly and differentiation). In infants
with Microvillus Inclusion Disease, chronic diarrhea and malabsorption may result in severe dehydration, deficiency of necessary nutrients (malnutrition), a failure to
grow and gain weight at the expected rate (failure to thrive), and/or disturbance of the body� s balance of acids and bases, which is essential in regulating the body � s
composition of bodily fluids (acidosis). Microvillus Inclusion Disease is inherited as an autosomal recessive genetic trait.
Mikulicz Syndrome: a chronic benign condition characterized by the abnormal enlargement of glands in the head and neck, including those in front of the ears (parotids)
and those around the eyes (lacrimal) and mouth (salivary). The tonsils and other glands in the soft tissue of the face and neck may also be involved. Some people with
Mikulicz Syndrome may experience recurring fevers. These may be accompanied by swollen eyes (lacrimal adenitis), diminished tear production (lacrimation), and
inflammation of various parts of the eyes (uveitis). The exact cause of Mikulicz Syndrome is not known. This disease always occurs in association with another
underlying disorder such as Tuberculosis, Leukemia, Syphilis, Hodgkin's Disease, Lymphosarcoma, Sjogren's Syndrome, or Lupus (SLE).
Miller Syndrome : also known as postaxial acrofacial dysostosis, is an extremely rare genetic disorder that is apparent at birth (congenital). The disorder is characterized
by distinctive craniofacial malformations occurring in association with abnormalities of the outer aspects of the forearms and lower legs (postaxial limb deficiency).
Craniofacial malformations may include underdevelopment of the cheekbones (malar hypoplasia); an abnormally small jaw (micrognathia); incomplete closure of the roof
of the mouth (cleft palate); small, protruding, "cup-shaped" ears; and/or absence of tissue from (colobomas) and/or drooping of the lower eyelids, exposing the
conjunctivae, the thin, delicate mucous membranes that line the eyelids as well as a portion of the eyeballs (ectropion). In infants and children with Miller Syndrome, limb
abnormalities may include incomplete development (hypoplasia), webbing (syndactyly), and/or absence of certain fingers and/or toes (e.g., the fifth digits and, in some
cases, the fourth and third digits) and/or underdevelopment (hypoplasia) of the bones on the "pinky" side (ulna) and, in some cases, the thumb side of the forearms
(radius), causing the forearms to appear unusually short. Additional physical abnormalities may be present in some cases. Miller Syndrome is thought to be inherited as
an autosomal recessive genetic trait.
Mitochondrial myopathies : a group of neuromuscular diseases caused by damage to the mitochondria - small, energy-producing structures found in every cell in the
body that serve as the cells' "power plants." Nerve cells in the brain and muscles require a great deal of energy, and thus appear to be particularly damaged when
mitochondrial dysfunction occurs. Some of the more common mitochondrial myopathies include Kearns-Sayre syndrome, myoclonus epilepsy with ragged-red fibers
(MERRF), and mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS). The symptoms of mitochondrial myopathies include muscle
weakness or exercise intolerance, heart failure or rhythm disturbances, dementia, movement disorders, stroke-like episodes, deafness, blindness, vomiting, and
seizures. The disorders range in severity from progressive weakness to death. The age of onset ranges from birth to adulthood, with the majority of cases occurring
before the age of 20. Exercise intolerance or muscle weakness usually develops by the age of 20. During physical activity, muscles may become easily fatigued or weak.
Muscle cramping may rarely occur. Nausea, headache, and breathlessness are also sometimes associated with mitochondrial myopathies.
Although there is no specific treatment for any of the mitochondrial myopathies, physical therapy may extend the range of movement of muscles and improve dexterity.
Vitamin therapies such as riboflavin, coenzyme Q, vitamins C and K, and carnitine (a specialized amino acid) may improve function in some patients.
Kiester, E. A Bug in the System. Discover, pp. 70-76 (February 1991).
Palca, J. The Other Human Genome. Science 249; 1104-1105 (September 7, 1990).
Pavlakis, S, Rowland, L, DeVivo, D, Bonilla, E, and DiMauro, S. Mitochondrial Myopathies and Encephalomyopathies. In Advances in Contemporary Neurology, F.A.
Davis Co., Philadelphia, pp. 95-133 (1988).
Wallace, D. Mitochondrial DNA in Aging and Disease. Scientific American. pp. 40-47 (August 1997).
Mitral Valve Prolapse Syndrome : a heart disorder. The exact cause is unknown. It can be a symptom of other disorders such as connective tissue diseases or
muscular dystrophy, or it may occur by itself. Major symptoms include chest pain and/or palpitations, accompanied by a heart murmur. Shortness of breath, fatigue,
light-headedness and dizzy spells may, in some cases, progress to an inability to breathe except when sitting in an upright position. There is a characteristic click heard
through a stethoscope upon physical examination. Blood may flow back through the heart valve (mitral regurgitation) causing other complications.
Mixed Connective Tissue Disease (MCTD) : a collagen disorder. MCTD is often used to describe what may be an overlapping group of connective tissue
disorders that cannot be diagnosed in more specific terms. The syndrome is characterized by arthritic, cardiac, pulmonary and skin manifestations, kidney disease,
muscle weakness, and dysfunction of the esophagus.
Moebius Syndrome (congential facial diplegia ) a rare genetic disorder characterized by facial paralysis, is caused by the absence or underdevelopment of the
6th and 7th cranial nerves. These nerves control eye movements and facial expression. In newborns, the first symptom is an inability to suck. Excessive drooling and
strabismus (crossed eyes) may occur. Other symptoms may include lack of facial expression; inability to smile; feeding, swallowing, and choking problems; eye
sensitivity; motor delays; high or cleft palate; hearing problems; and speech difficulties. Deformities of the tongue, jaw, and limbs, such as club foot and missing or

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 webbed fingers, may also occur. Most patients have low muscle tone, especially in the upper body. Mental retardation may also occur. As children get older, lack of facial
expression and inability to smile become the dominant visible symptoms. Mobius syndrome may be accompanied by Pierre Robin syndrome, a disease in which there is
an abnormally small jaw, downward displacement of the tongue, and a soft, cleft palate. It may also be accompanied by Poland's anomaly, a disease characterized by
abnormal development of one side of the chest and limb deformities.
There is no specific course of treatment for Mobius syndrome. Treatment is supportive and symptomatic. Infants may require feeding tubes or special bottles to maintain
sufficient nutrition. Surgery may correct strabismus and improve limb and jaw deformities. Physical and speech therapy may improve motor skills and coordination, and
help to better control speaking and eating abilities. Plastic reconstructive surgery may be beneficial in some individuals. Also, in a few cases, nerve and muscle transfers
(microvascular muscle transplant) to the corners of the mouth have been performed to provide some ability to smile.
Miller, M, et. al. Mobius and Mobius-like Syndrome. Journal of Pediatric Ophthalmology and Strabismus, 26:4; 176-188 ,1989.
Raroque, H, et. al. Mobius Syndrome and Transposition of the Great Vessels. Neurology, 38; 1894-1895,1988.
Cohen, S, and Thompson, J. Variants of Mobius Syndrome and Central Neurologic Impairment: Lindeman Procedure in Children. Annals of Otology, Rhinology, and
Laryngology, 96; 93-100,1987.
Monilethrix : a rare inherited disorder characterized by sparse, dry, and/or brittle hair that often breaks before reaching more than a few inches in length. The hair may lack
luster, and there may be patchy areas of hair loss (alopecia). Another common symptom may be the appearance of elevated spots (papules) surrounding the hair
follicles that may be covered with gray or brown crusts or scales (perifollicular hyperkeratosis). When viewed under a microscope, the hair shaft resembles a string of
evenly-spaced beads. In most cases, Monilethrix is believed to be inherited as an autosomal dominant genetic trait.
Morquio Syndrome 莫奎歐氏症 ( 黏多醣症第四型): Mucopolysaccharidoses (MPS Disorders) are a group of rare genetic disorders caused by the
deficiency of one of ten specific lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules. The
accumulation of these large, undegraded mucopolysaccharides in the cells of the body causes a number of physical symptoms and abnormalities. Morquio Syndrome
(MPS IV) exists in two forms: Morquio Syndromes A and B are due to a deficiency in the enzyme N-acetyl- galactosamine-6-sulfatase and beta-galactosidase,
respectively. Deficiency of either enzyme leads to an accumulation of keratan sulfate and bony abnormalities of the head, chest, hands, knees and spine may occur as a
result of this metabolic defect, with preservation of intellect. The skeletal abnormalities in MPS IV-B are usually milder that in MPS IV-A.
Motor Neuron Disease 運動神經原疾病: comprises a group of severe disorders of the nervous system characterized by progressive degeneration of motor
neurons (neurons are the basic nerve cells that combine to form nerves). Motor neurons control the behavior of muscles. Motor Neuron Diseases may affect the upper
motor neurons, nerves that lead from the brain to the medulla (a part of the brain stem) or to the spinal cord, or the lower motor neurons, nerves that lead from the spinal
cord to the muscles of the body, or both. Spasms and exaggerated reflexes indicate damage to the upper motor neurons. A progressive wasting (atrophy) and weakness
of muscles that have lost their nerve supply indicate damage to the lower motor neurons.
Mountain Sickness, Acute : a group of symptoms that may occur in some people who ascend rapidly to altitudes higher than 8200 ft. (2500 m). Major symptoms may
include headaches, nausea, vomiting, and insomnia.
Moyamoya Disease : a progressive disease that affects the blood vessels in the brain (cerebrovascular). It is characterized by narrowing and/or closing of the main
artery to the brain (carotid). This lack of blood may cause paralysis of the feet, legs or the upper extremities. Headaches, various vision problems, mental retardation,
and psychiatric problems may also occur.
Mucha Habermann Disease : an uncommon skin disorder characterized by recurrent red, round and elevated lesions (papules), hemorrhages under the skin (purpura),
and blister-like lesions (vesicles). It occurs most often in young adults and children.
Mucolipidosis IV 第四型黏脂質貯積症: a rare inherited metabolic disorder believed to be characterized by a deficiency of the enzyme ganglioside sialidase
(neuraminidase). However, it has not been confirmed that this is the primary enzyme defect associated with this disorder. Mucolipidosis IV belongs to a group of
diseases known as lysosomal storage disorders. Lysosomes are particles bound in membranes within cells that break down certain fats and carbohydrates. A deficiency
of ganglioside sialidase may lead to the accumulation of certain fatty substances (mucolipids) and certain complex carbohydrates (mucopolysaccharides) within the cells
of many tissues of the body. Mucolipidosis IV is characterized by mental retardation; severe impairment in the acquisition of skills requiring the coordination of
muscular and mental activities (psychomotor retardation); diminished muscle tone (hypotonia); clouding (opacity) of the clear portion of the eyes through which light
passes (cornea); and/or degeneration of the nerve-rich membrane lining the eyes (retinal degeneration). Mucolipidosis IV is thought to be inherited as an autosomal
recessive genetic trait.
Mucopolysaccharidosis 黏多醣症: a group of hereditary diseases of lysosomal storage. They are characterized by deposits of mucopolysaccharides in the
arteries, skeleton, eyes, joints, ears, skin and teeth. These deposits may also be found in the respiratory system, liver, spleen, central nervous system, blood cells and
bone marrow.
Hurlers-Scheie Syndrome 賀勒氏症候群( 黏多醣症第一型 ): Mucopolysaccharidoses (MPS Disorders), are a group of rare genetic disorders
caused by the deficiency of -L-iduronidase enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules. The
accumulation of dermatin, herparan sulfate of these large, undegraded mucopolysaccharides in urine and glycosaminoglycan in fibroblast causes a number of physical
symptoms and abnormalities. Hurler Syndrome is a form of MPS called MPSIH. Hurler -Scheie Syndrome is called MPSIH/S.. Scheie Syndrome is called MPSIS.
Hunter Syndrome is called MPSII ( 黏多醣症第二型 ): deficiency of iduroate sulfatase enzymes，屬 X-性聯隱性遺傳
Sanfilippo Syndrome is called MPSIII ( 黏多醣症第三型 ). : deficiency of heparan N-sulfatase ( type A ), -N-acetylglucosaminidase ( type B ),
acetyl-CoA : -glucosaminide acetyltransferase ( type C ), N-acetyl glucosamine 6-sulfatase ( type D ) enzymes; with a characteristic significant retardation of
CNS.
Morquio Syndrome is called MPSIV ( 黏多醣症第四型 ) : deficiency of N-acetylgalactosamine 6-sulfatase ,
Maroteaux-Lamy Syndrome is called MPSVI ( 黏多醣症第六型 ) : deficiency of arylsulfatase B or N-acetylgalactosamine 4-fulfatase in
lysosomel
Sly Syndrome is called MPSVII (
黏多醣症第七型 ) : deficiency of -glucuronidase, like MPSII，accumulated of glycosaminoglycan
Mulibrey Nanism Syndrome (Perheentupa Syndrome) : an extremely rare inherited disorder characterized by profound growth delays (dwarfism) and
distinctive abnormalities of the muscles, liver, brain, and eyes. The acronym MULIBREY stands for (MU)scle, (LI)ver, (BR)ain, and (EY)e. "Nanism" is another word for
"dwarfism." Characteristic symptoms may include low birth weight, short stature, and severe progressive growth delays. Muscles are usually underdeveloped and lack
normal tone (hypotonia). Some infants with this disorder may have an abnormally large liver (hepatomegaly). Other findings may include abnormal widening (dilation) of
the spaces surrounding the brain (cerebral ventricles) and the excessive accumulation of fluid (cerebrospinal) around the brain (hydrocephalus). Infants with Mulibrey
Nanism typically have yellow discolorations in their eyes. In addition, a portion of the inner layer of the eyes may be underdeveloped (choriocapillaris hypoplasia). Vision
may also be impaired (amblyopia). Infants with Mulibrey Nanism Syndrome may also experience symptoms related to overgrowth of the fibrous sac that surrounds the
heart (constrictive pericarditis). Symptoms may include excessive fluid in the lungs (pulmonary effusion) and abnormal fluid accumulation in the abdomen (ascites).
Other related symptoms may include unusual swelling of the arms and/or legs (peripheral edema) and/or enlargement of the heart. Mulibrey Nanism Syndrome is
inherited as an autosomal recessive genetic trait.
Mullerian Aplasia : a rare disorder that affects only females. It is characterized by the absence of the uterus, the cervix, and the upper part of the vagina in a female who
has normal ovarian function and normal external genitalia. Although females with this disorder develop normal secondary sexual characteristics during puberty (e.g.,
breast development and pubic hair), the failure of menstrual cycles to begin (primary amenorrhea) is usually the initial symptom. The exact cause of Mullerian Aplasia is
not known. The unusual physical characteristics associated with this disorder seem to result from developmental abnormalities during embryonic or fetal growth.
Multi-infarct dementia (MID): a common cause of dementia in the elderly, occurs when blood clots block small blood vessels in the brain and destroy brain tissue.
Probable risk factors are high blood pressure and advanced age. CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)
is an inherited form of MID. This disease can cause stroke, dementia, migraine-like headaches, and psychiatraic disturbances. Symptoms of MID, which often develop in
a stepwise manner, include confusion, problems with recent memory, wandering or getting lost in familiar places, loss of bladder or bowel control (incontinence),
emotional problems such as laughing or crying inappropriately, difficulty following instructions, and problems handling money. Usually the damage is so slight that the
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 change is noticeable only as a series of small steps. However over time, as more small vessels are blocked, there is a gradual mental decline. MID, which typically
begins between the ages of 60 and 75, affects men more often than women.
Currently there is no treatment for MID that can reverse the damage that has already occurred. Treatment focuses on prevention of additional brain damage by controlling
high blood pressure.
Bradley, W, et al (eds) Neurology in Clinical Practice: Principles of Diagnosis and Management vol. II, Butterworth-Heinemann, Boston, pp. 1427-1430 (1991)
Joynt, R (ed). Clinical Neurology vol. 3, Chapter 32, J.B. Lippincott Co., Philadelphia, pp. 45-47 (1990)
Mahler, M, and Cummings, J. Behavioral Neurology of Multi-Infarct Dementia Alzheimer Disease and Associated Disorders, 5:2; 122-130 (1991)
Rowland, L (ed). Merritt?s Textbook of Neurology 8th edition, Lea & Febiger, Philadelphia, pp. 4-9 (1989)
Wyngaarden, J, et al (eds). Cecil Textbook of Medicine 19th edition, W.B. Saunders Co., Philadelphia, p. 2090 (1992)
Multiple Sclerosis (MS )多發性硬化症 : a life-long chronic disease diagnosed primarily in young adults. During an MS attack, inflammation occurs in areas of
the white matter of the central nervous system (nerve fibers that are the site of MS lesions) in random patches called plaques. This process is followed by destruction of
myelin, which insulates nerve cell fibers in the brain and spinal cord. Myelin facilitates the smooth, high-speed transmission of electrochemical messages between the
brain, the spinal cord, and the rest of the body.
The pathological hallmark of chronic multiple sclerosis is the demyelinated plaque, which consists of a well-demarcated hypocellular area characterized by the loss of
myelin, relative preservation of axons, and the formation of astrocytic scars . Lesions have a predilection for the optic nerves, periventricular white matter, brain stem,
cerebellum, and spinal cord white matter, and they often surround one or several medium-sized vessels. Although the lesions are usually round or oval, they often have
finger-like extensions along the path of small or medium-sized blood vessels (Dawson's fingers). Inflammatory cells are typically perivascular in location, but they may
diffusely infiltrate the parenchyma. The composition of the inflammatory infiltrate varies depending on the stage of demyelinating activity. In general, it is composed of
lymphocytes and macrophages; the latter predominate in active lesions.
For meaningful conclusions to be drawn regarding the earliest immunologic and molecular events contributing to the formation of lesions, only actively demyelinating
plaques should be considered. Identifying myelin-degradation products in macrophages is the most reliable method of identifying active lesions (Figure 4). (44) When
stringent criteria are used to define lesional activity, the frequency of active plaques in patients with chronic multiple sclerosis is extremely low. Although remyelination is
minimal in lesions associated with chronic multiple sclerosis, plaques in acute and early multiple sclerosis may have extensive remyelination (referred to as shadow
plaques) (Figure 5). Furthermore, the lesions of chronic multiple sclerosis reportedly contain substantial numbers of oligodendrocyte precursor cells. (45) Thus, central
nervous system myelin can be repaired, and mechanisms that promote endogenous remyelination may represent a feasible therapeutic strategy.
Symptoms of MS may be mild or severe and of long duration or short and appear in various combinations. The initial symptom of MS is often blurred or double vision,
red-green color distortion, or even blindness in one eye. Most MS patients experience muscle weakness in their extremities and difficulty with coordination and balance.
Most people with MS also exhibit paresthesias, transitory abnormal sensory feeling such as numbness or "pins and needles." Some may experience pain or loss of feeling.
About half of people with MS experience cognitive impairments such as difficulties with concentration, attention, memory, and judgment. Such impairments are usually
mild, rarely disabling, and intellectual and language abilities are generally spared. Heat may cause temporary worsening of many MS symptoms. Physicians use a
neurological examination and take a medical history when they suspect MS. Imaging technologies such as MRI, which provides an anatomical picture of lesions, and
MRS (magnetic resonance spectroscopy), which yields information about the biochemistry of the brain. Physicians also may study patients' cerebrospinal fluid and an
antibody called immunoglobulin G. No single test unequivocally detects MS. A number of other diseases produce symptoms similar to those seen in MS.
Relapsing-remitting multiple sclerosis ( 80 % ) typically starts with sensory disturbances, unilateral optic neuritis, diplopia (internuclear ophthalmoplegia), Lhermitte's sign
(trunk and limb paresthesias evoked by neck flexion), limb weakness, clumsiness, gait ataxia, and neurogenic bladder and bowel symptoms. Many patients describe
fatigue that is worse in the afternoon and is accompanied by physiologic increases in body temperature. The onset of symptoms post partum and symptomatic worsening
with increases in body temperature (Uhthoff's symptom) and pseudoexacerbations with fever suggest the diagnosis. Some patients have recurring, brief, stereotypical
phenomena (paroxysmal pain or paresthesias, trigeminal neuralgia, episodic clumsiness or dysarthria, and tonic limb posturing) that are highly suggestive of multiple
sclerosis.
Prominent cortical signs (aphasia, apraxia, recurrent seizures, visual-field loss, and early dementia) and extrapyramidal phenomena (chorea and rigidity) only rarely
dominate the clinical picture. Eventually, cognitive impairment, depression, emotional lability, dysarthria, dysphagia, vertigo, progressive quadriparesis and sensory loss,
ataxic tremors, pain, sexual dysfunction, spasticity, and other manifestations of central nervous system dysfunction may become troublesome. Patients who have primary
progressive multiple sclerosis often present with a slowly evolving upper-motor-neuron syndrome of the legs ("chronic progressive myelopathy"). Typically, this variant
worsens gradually, and quadriparesis, cognitive decline, visual loss, brain-stem syndromes, and cerebellar, bowel, bladder, and sexual dysfunction may develop.
There is as yet no cure for MS. Until recently, steroids were the principal medications for MS. While steroids cannot affect the course of MS over time, they can reduce the
duration and severity of attacks in some patients. The FDA has recently approved new drugs to treat MS. The goals of therapy are threefold: to improve recovery from
attacks, to prevent or lessen the number of relapses, and to halt disease progression.chronic disorder of the central nervous system (CNS) that causes the destruction of
the covering (myelin sheath) over the nerves.
Noseworthy JH, Lucchinetti C, Rodriguez M, Weinshenker BG. Medical Progress: Multiple Sclerosis. New Eng. J Med. 343 : 13,2000
Multiple Sulfatase Deficiency 多發性硫酸脂脢缺乏症 : a very rare hereditary metabolic disorder characterized by impairment of all known sulfatase
enzymes. Major symptoms include coarse facial features, deafness, and an enlarged liver and spleen (hepatosplenomegaly). Abnormalities of the skeleton may occur
such as curvature of the spine (lumbar kyphosis) and in the breast bone. The skin is usually dry and scaly (ichthyosis). Before symptoms are noticeable, children with
this disorder usually develop more slowly than normal. They may not learn to walk or speak as quickly as other children.
Mulvihill Smith Syndrome : an extremely rare inherited disorder characterized by low birth weight; growth delays, leading to short stature (dwarfism); and/or a
prematurely aged facial appearance. Other findings may include additional abnormalities of the head and facial (craniofacial) area, multiple deeply-colored skin lesions
(pigmented nevi), hearing impairment, and/or mental retardation. Eventually, some affected individuals may develop diminished capabilities to resist and fight off
repeated infections (primary immunodeficiency). The range and severity of symptoms varies from case to case. Mulvihill-Smith Syndrome is thought to occur randomly,
for no apparent reason (sporadically).
Mumps 腮腺炎: an acute viral illness that causes a painful inflammation and swelling of the saliva glands. These glands include the parotid, submaxillary, sublingual and
buccal salivary glands. Mumps used to be a common infectious disease of childhood until a vaccine was developed in 1967 to immunize children against the virus that
causes the disorder. However, recent outbreaks of mumps among adolescents and young adults have raised questions about lifetime immunity from the vaccine.
MURCS Association : a very rare developmental disorder that affects only females. The acronym MURCS stands for (MU)llerian, (R)enal, (C)ervicothoracic (S)omite
abnormalities. This rare disorder is characterized by the absence of the uterus, cervix, and upper part of the vagina (Mullerian Aplasia); kidney (renal) abnormalities,
including absent (agenic) and/or improperly positioned (ectopic) kidneys; and/or malformations of the spinal column, ribs, and/or arms. Some affected females may
exhibit additional physical abnormalities, such as malformations of the head and facial (craniofacial) area. In individuals with MURCS Association, symptoms vary from
case to case. MURCS Association appears to occur randomly, with no apparent cause (sporadic). Some researchers suggest that the malformations associated with
this disorder may result from abnormal changes in cellular material (blastema) in portions of the embryo that later develop into the arms, certain bones (vertebrae) in the
spinal column, the kidneys, and adjacent structures (e.g., fallopian tubes).
Muscular dystrophy (MD) : refers to a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal or voluntary muscles which
control movement. The muscles of the heart and some other involuntary muscles are also affected in some forms of MD, and a few forms involve other organs as well.
The major forms of MD include myotonic, Duchenne, Becker, limb-girdle, facioscapulohumeral, congenital, oculopharyngeal, distal and Emery-Dreifuss. Duchenne is the
most common form of MD affecting children, and myotonic MD is the most common form affecting adults. MD can affect people of all ages. Although some forms first
become apparent in infancy or childhood, others may not appear until middle age or later.
There is no specific treatment for any of the forms of MD. Physical therapy to prevent contractures (a condition in which shortened muscles around joints cause abnormal
and sometimes painful positioning of the joints), orthoses (orthopedic appliances used for support) and corrective orthopedic surgery may be needed to improve the
quality of life in some cases. The cardiac problems that occur with Emery-Dreifuss MD and myotonic MD may require a pacemaker. The myotonia (delayed relaxation of a
muscle after a strong contraction) occurring in myotonic MD may be treated with medications such as phenytoin or quinine.
Dubowitz V. What's in a name? Muscular dystrophy revisited . European Journal of Paediatric Neurology. 1998;2(6):279-84
Laing NG, Mastaglia FL. Inherited skeletal muscle disorders Annals of Human Biology. 1999 Nov-Dec;26(6):507-25
Moore DP, Kowalske KJ. Neuromuscular rehabilitation and electrodiagnosis 5. Myopathy. Archives of Physical Medicine and Rehabilitation. 2000 Mar;81(3 Suppl
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 1):S32-5; quiz S36-44
Tsao CY, Mendell JR. The childhood muscular dystrophies: making order out of chaos Seminars in Neurology. 1999;19(1):9-23
Urtizberea JA. Therapies in muscular dystrophy: current concepts and future prospects European Neurology. 2000;43(3):127-32
Muscular Dystrophy, Becker 肌肉性營養不良 e inherited muscle wasting disease usually beginning during the second or third decade of life. This slowly
progressive disorder affects males almost exclusively. Muscles of the hips and shoulders are weakened, walking abnormalities develop, and mild mental retardation may
be present. Eventually, other more severe symptoms may involve the heart and lungs.
Muscular Dystrophy, Duchenne : a hereditary degenerative disease of skeletal (voluntary) muscles, is considered the most prevalent form of childhood muscular
dystrophy. The disorder typically is recognized from approximately age three to six years and has a relatively rapid, progressive disease course. Duchenne Muscular
Dystrophy is initially characterized by muscle weakness and wasting (atrophy) within the pelvic area that may be followed by involvement of the shoulder muscles. With
disease progression, muscle weakness and atrophy affect the trunk and forearms and gradually progress to involve most major muscles of the body. In individuals with
the disorder, initial findings may include an unusual, waddling manner of walking (gait); difficulty climbing stairs or rising from a sitting position; and repeated falling. With
disease progression, additional abnormalities may develop, such as progressive curvature of the spine; wasting of thigh muscles and abnormal enlargement of the
calves due to degenerative changes of muscle fibers (pseudohypertrophy); and abnormal fixation of certain joints (joint contractures) due to muscle weakness,
prolonged immobility, and shortening of muscle fibers. By approximately age 10 to 12, most affected individuals require the use of a wheelchair. Duchenne Muscular
Dystrophy is also typically characterized by additional abnormalities, including involvement of heart muscle (cardiomyopathy) and varying degrees of intellectual
impairment. Affected individuals may develop an increased susceptibility to respiratory infections (e.g., pneumonia), respiratory failure, impaired ability of the heart to
pump blood effectively (heart failure), or other serious findings, leading to potentially life-threatening complications by late adolescence or early adulthood. Duchenne
Muscular Dystrophy is caused by changes (mutations) of a gene on the short arm (p) of chromosome X (Xp21.2). The gene regulates the production of a protein that is
found in skeletal and cardiac muscle. Known as dystrophin, the protein is thought to play an important role in maintaining the structure of these muscle cells. In most
affected individuals, Duchenne Muscular Dystrophy is inherited as an X-linked recessive trait. Therefore, the disorder is usually fully expressed in males only. However,
in rare instances, females who carry a copy of the mutated gene (heterozygous carriers) may develop certain, typically milder symptoms associated with the disorder. In
addition, for some individuals with Duchenne Muscular Dystrophy, there is no family history of the disease. In such cases, the disorder may be caused by new (sporadic)
genetic mutations that occur for unknown reasons.
Muscular Dystrophy, Emery Dreifuss : a rare, often slowly progressive form of muscular dystrophy affecting the muscles of the arms, legs, face, neck, spine and
heart. Major symptoms may include muscle wasting and weakness particularly in the elbows, Achilles tendons, and upper back muscles as well as the heart.
Muscular Dystrophy, Fukuyama Type : a rare form of Muscular Dystrophy that is inherited as an autosomal recessive trait. Symptoms of this disorder begin before
the age of nine months and include mental retardation, loss of muscle tone or tension and weakness of the muscles. This disorder is predominantly found in Japan.
Muscular Dystrophy, Limb Girdle : a group of inherited, progressive disorders that are characterized by weakness and wasting (atrophy) of muscles of the hip and
shoulder areas. Several different forms of the disorder have been identified that are caused by abnormal changes (mutations) of certain genes. Of these disease
subtypes, at least eight have autosomal recessive inheritance and at least three are transmitted as an autosomal dominant trait. In most individuals with Limb-Girdle
Muscular Dystrophy, associated symptoms and findings become apparent during childhood. However, less commonly, symptom onset may begin during adolescence or
adulthood. Muscle weakness may spread from the lower limbs to the upper limbs or vice versa. Although the disorder typically progresses slowly, some affected
individuals experience rapid disease progression.
Muscular Dystrophy, Oculo Gastrointestinal : a very rare form of muscular dystrophy that affects females more often than males. It is inherited as an
autosomal recessive trait and its major characteristics are droopy eyelids (ptosis), loss of movement of the external muscles of the eye (external ophthalmoplegia), and a
progressive condition in which the intestinal walls are unable to contract normally causing abdominal pain, diarrhea, constipation, and malabsorption of nutrients
(progressive intestinal pseudo-obstruction).
Mutism, Selective 啞症 a rare psychiatric condition primarily occuring during childhood. It is characterized by the refusal to speak in social situations. Ability to
understand spoken language and to speak is usually not impaired. Symptoms include excessive shyness, anxiety, depression, and controlling manipulative behavior.
Myasthenia Gravis 重症肌無力症: a chronic autoimmune neuromuscular disease characterized by varying degrees of weakness of the skeletal (voluntary)
muscles of the body. The hallmark of myasthenia gravis is muscle weakness that increases during periods of activity and improves after periods of rest. Muscles that
control eye and eyelid movements, facial expression, chewing, talking, and swallowing are often, but not always, involved. The muscles that that control breathing and
neck and limb movements may also be affected. Myasthenia gravis is caused by a defect in the transmission of nerve impulses to muscles. Normally when impulses
travel down the nerve, the nerve endings release a neurotransmitter substance called acetylcholine. In myasthenia gravis, antibodies produced by the body's own
immune system block, alter, or destroy the receptors for acetylcholine. The first noticeable symptoms of myasthenia gravis may be weakness of the eye muscles,
difficulty in swallowing, or slurred speech. Symptoms vary in type and severity. Myasthenia gravis is not directly inherited nor is it contagious. The first steps in
diagnosing myasthenia gravis include a review of the individual's medical history and physical and neurological examinations. If the doctor suspects myasthenia gravis,
several diagnostic tests are available to confirm the diagnosis, including a special blood test that can detect the presence of immune molecules or acetylcholine receptor
antibodies.
Myasthenia gravis can be controlled. Some medications improve neuromuscular transmission and increase muscle strength, and some suppress the production of
abnormal antibodies. These medications must be used with careful medical followup because they may cause major side effects. Thymectomy, the surgical removal of the
thymus gland, improves symptoms in certain patients and may cure some individuals. Other therapies include plasmapheresis, a procedure in which abnormal antibodies
are removed from the blood, and high-dose intravenous immune globulin, which temporarily modifies the immune system and provides the body with normal antibodies
from donated blood .
Mycosis Fungoides 黴菌病 a rare form of T-cell lymphoma of the skin (cutaneous); the disease is typically slowly progressive and chronic. In individuals with Mycosis
Fungoides, the skin becomes infiltrated with plaques and nodules that are composed of lymphocytes. In advanced cases, ulcerated tumors and infiltration of lymph
nodes by diseased cells may occur. The disorder may spread to other parts of the body including the gastrointestinal system, liver, spleen, or brain.
Myelitis 骨髓炎 isorder of the spine marked by inflammation of the spinal cord. When inflammation is very limited, the condition may be called a "myelopathy." Injury to
the spine, benign tissue growths, or blood vessel abnormalities may also cause this disorder. Major symptoms may initially include pain, followed by gradual paralysis
and/or other central nervous system disturbances.
Myelofibrosis, Idiopathic 骨髓纖維變性 Myelofibrosis is a condition characterized by formation of fibrous tissue (fibrosis) within the bone marrow. Myelofibrosis
may occur as a secondary characteristic to other disorders such as polycythemia vera, certain metabolic disorders, and/or chronic myeloid leukemia. In many cases, the
cause of Myelofibrosis may be unknown (idiopathic). In Idiopathic Myelofibrosis the ability of the bone marrow to produce red blood cells may be impaired. Symptoms
of Idiopathic Myelofibrosis may include abnormally low levels of circulating red blood cells (anemia), an abnormally large spleen (splenomegaly), an abnormally large
liver (hepatomegaly), weight loss, weakness and fatigue due to replacement of normal bone marrow cells, and/or episodes of severe pain in the abdomen, bones, and
joints. In many cases, Myelofibrosis occurs in association with increased bone density and the formation of small sharp pieces of bone (spicules) within the marrow
cavity and increased bone density (osteosclerosis).
Myeloma, Multiple 多發性骨髓瘤: a rare condition characterized by excessive production (proliferation) and improper function of certain cells (plasma cells) of the
bone marrow. Major symptoms may include weakness; fatigue; pain in the back and the ribs, worsened by movement; low levels of circulating red blood cells (anemia);
and/or renal failure. In most cases, affected individuals are more susceptible to bacterial infections such as pneumonia. If the bones of the spine are involved, they may
collapse, resulting in spinal cord compression. The exact cause of Multiple Myeloma is not known.
Myhre Syndrome : an extremely rare inherited disorder characterized by mental retardation, short stature, unusual facial features, and various bone (skeletal)
abnormalities. Characteristic facial features may include abnormally narrow skin folds (palpebral fissures) between the upper and lower eyelids (blepharophimosis),
underdevelopment of the upper jaw bone (maxillary hypoplasia), and an unusually prominent jaw (prognathism). Other findings may include hearing impairment,
abnormal enlargement of the muscles (muscular hypertrophy), and/or joint stiffness. Myhre syndrome is thought to be inherited as an autosomal dominant genetic trait.
Myoclonus, General 肌陣攣: a neurological movement disorder characterized by sudden, involuntary twitching of skeletal muscles. It describes a symptom and,
generally, is not a diagnosis of a disease. The myoclonic twitches or jerks are usually caused by sudden muscle contractions; they also can result from brief lapses of
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 contraction. Myoclonic jerks may occur alone or in sequence, in a pattern or without pattern. They may occur infrequently or many times each minute. Most often
myoclonus is one of several symptoms in a wide variety of nervous system disorders such as multiple sclerosis, Parkinson's disease, Alzheimer's disease, or
Creutzfeldt-Jakob disease. Familiar examples of normal myoclonus include hiccups, and jerks or "sleep starts" that some people experience while drifting off to sleep.
Severe cases of pathologic myoclonus can distort movement and severely limit a person's ability to eat, talk, and walk. Myoclonic jerks commonly occur in individuals
with epilepsy. The most common types of myoclonus include action, cortical reflex, essential, palatal, progressive myoclonus epilepsy, reticular reflex, sleep, and
stimulus-sensitive. Based on the various symptoms, there are three types of Myoclonus: Intention Myoclonus, Rhythmical Myoclonus, and Arrhythmic Myoclonus.
Intention Myoclonus (Action Myoclonus) includes Postanoxic Myoclonus and Postencephalitic Myoclonus. Arrhythmic Myoclonus (stimulus-sensitive myoclonus) includes:
Hereditary Essential Myoclonus (paramyoclonus multiplex), Hyperexplexia (Essential Startle Disease), Opsoclonus (Infantile Myoclonic Encephalopathy, Polymyoclonia
Familial Arrhythmic Myoclonus), Progressive Myoclonic Epilepsy, Ramsay Hunt Syndrome (Dyssynergia Cerebellaris Myoclonia). Rhythmical Myoclonus includes
(Segmental Myoclonus), Nocturnal Myoclonus, Palatal Myoclonus, and Respiratory Myoclonus.
Treatment for myoclonus consists of medications that may help reduce symptoms. Many of these drugs, which include barbiturates, clonazepam, phenytoin, primidone,
and sodium valproate, are also used to treat epilepsy. The complex origins of myoclonus may require the use of multiple drugs for effective treatment.
Myopathy, Congenital, Batten Turner Type : an extremely rare, inherited muscle disease (myopathy) and is characterized by the lack of muscle tone or floppiness
at birth (congenital hypotonia). The symptoms of Batten Turner Type Congenital Myopathy are slowly progressive during infancy and childhood. However, this disorder is
not progressive in adulthood.
Myopathy, Desmin Storage : (DSM) is a rare inherited muscle disorder which may be apparent at birth or may not appear until as late as age 40. Three forms of this
disorder have been described in the medical literature. The symptoms and age of onset depend on which form affects the individual. Symptoms of late onset Desmin
Storage Myopathy (autosomal dominant DSM) may include weakness of the muscles at the base of the thumb and/or weakness of the muscles used to flex the hand.
Muscle weakness in the face, shoulder, and/or pelvic area, a spine that curves backward and to one side, and/or heart disease may occur in the congenital form of the
disorder. The third form of Desmin Storage Myopathy is characterized by heart disease (cardiomyopathy associated with DSM) which appears at variable ages and may
lead to life-threatening complications.
Myopathy, Myotubular : a rare muscle wasting disorder that occurs in three forms. The most severe form is present at birth, inherited as an X- Linked genetic trait, and
presents itself with severe respiratory muscle weakness. A less severe form of Myotubular Myopathy is present at birth or early childhood, progresses slowly and is
inherited as an autosomal recessive genetic trait. The least severe of the three forms of Myotubular Myopathy is inherited as an autosomal dominant genetic trait,
presents itself between the first and third decades of life and is slowly progressive.
Myopathy, Scapuloperoneal : a genetic disorder characterized by a weakness and wasting of muscles. Symptoms are usually limited to the shoulder blade area
(scapula) and the smaller of the two leg muscle groups below the knee (peroneal). Facial muscles may be affected in a few cases. The leg symptoms often appear
before the shoulder muscles become weakened. Progression rates vary between cases. This condition can also occur in combination with several other disorders.
Myositis, Inclusion Body : (IBM) is a rare muscular disorder that usually becomes apparent during adulthood. The disorder is characterized by slowly progressive
inflammation of the muscles (myositis) of the arms and legs (i.e., those nearest [proximal] to and/or farthest [distal] from the trunk). Muscle tissues of the fingers, wrists,
knees, and/or feet are also often affected. Individuals with Inclusion Body Myositis may experience weakness, pain, tenderness, and/or degeneration (atrophy) of
affected muscles as well as diminished involuntary muscle contractions (deep tendon reflexes). In addition, in some cases, affected individuals may also have impaired
nerve transmission to certain muscles (peripheral neuropathy), contributing to muscle thinning and weakness. In individuals with the disorder, removal (biopsy) and
examination of samples of muscle tissue under a microscope may reveal abnormal levels of inflammatory cells as well as abnormal membrane-bound cavities
(vacuolated inclusion bodies) within muscle tissue. In many cases, the cause of Inclusion Body Myositis is unknown. However, some familial cases of the disorder have
been reported in the medical literature. In such cases, Inclusion Body Myositis appears to be inherited as an autosomal dominant genetic trait.
Myotonia Congenita 先天性肌強直: an extremely rare inherited disorder in which an abnormality of the skeletal muscle membranes causes an unusually
exaggerated response to stimulation (hyperexcitability). As a result, affected individuals have difficulty relaxing certain muscles after contracting them (myotonia), and
affected muscles may be abnormally stiff and rigid. Such symptoms tend to occur when affected individuals attempt to move certain muscles after rest. In many cases,
individuals with Myotonia Congenita also exhibit abnormal enlargement of the muscles (hypertrophy) and unusually distinct muscle definition, resulting in a "herculean"
or "body-builder like" appearance. There are two forms of Myotonia Congenita: Thomsen Type and Becker Type. In individuals with Thomsen Type Myotonia
Congenita, symptoms such as myotonia, associated muscle stiffness, and abnormal muscle enlargement may become apparent from infancy to approximately two to
three years of life. After onset, symptoms stabilize and do not progress with age. In many cases, muscles of the eyelids, hands, and legs may be most affected. However,
other muscle groups may be involved as well. In rare cases, some individuals with this form of Myotonia Congenita may also experience weakness in affected muscles.
Thomsen Type Myotonia Congenita is inherited as an autosomal dominant genetic trait. In individuals with Becker Type Myotonia Congenita, symptoms typically become
apparent between the ages of four to 12 years; however, in rare cases, onset may occur as late as approximately 18 years of age. As in Thomsen Type Myotonia
Congenita, affected individuals develop myotonia, associated muscle stiffness and rigidity, and abnormal muscle enlargement (hypertrophy). However, such symptoms
tend to be more severe, and muscle hypertrophy may be particularly striking. In addition, individuals with Becker Type Myotonia Congenita exhibit weakness of affected
muscles and may experience muscle pain. This form of the disease, contrary to Thomsen Type, is a progressive disorder that tends to initially affect muscles in the legs.
Within a few years, muscles of the arms are affected, and, eventually, the muscles of the jaw (masticatory) and face become involved. This disorder is inherited as an
autosomal recessive genetic trait.

N
N-Acetyl Glutamate Synthetase Deficiency (NAGS) N-乙醯麩胺酸合成脢缺乏症 : one of several hereditary urea cycle disorders. These
disorders are caused by a deficiency of one of the enzymes needed for the breakdown of ammonia into urea, which is normally excreted in the urine. The deficiencies
cause an excess of ammonia in the blood (hyperammonemia). In NAGS Deficiency the deficient enzyme is N-acetyl glutamate synthetase. If left untreated, NAGS
deficiency manifests itself by an elevated level of toxic ammonia in the blood (hyperammonemia). Untreated this imbalance may lead to brain damage, coma, and
life-threatening complications.
Nager Syndrome : a rare disorder that may or may not be genetically derived. Major symptoms may include underdevelopment of the cheek and jaw area of the face.
Down-sloping of the opening of the eyes, a smaller than normal jaw, lack or absence of the lower eyelashes, lack of development of the internal and external ear with
related hearing problems and cleft palate may also occur. There may be underdevelopment or absence of the thumb, shortened forearms and poor movement in the
elbow. Breathing and feeding problems may be present in infants with this syndrome.
Nail Patella Syndrome : (NPS) a rare genetic disorder that is usually apparent at birth or during early childhood. Although the symptoms and physical characteristics
associated with NPS may vary, characteristic abnormalities tend to include improper development (dysplasia) of the fingernails and toenails; absence (aplasia) and/or
underdevelopment (hypoplasia) of the knee caps (patellae); underdevelopment of certain bones and/or webbing of skin at the bend of the elbow(s); and/or abnormal
projections of bone from the upper (superior) portion of both sides of the hipbone (bilateral iliac horns). In addition, some individuals within certain families (kindreds)
may have abnormally increased fluid pressure of the eyes (glaucoma). The condition results due to progressive blockage of the outflow of fluid (aqueous humor) from
the front chamber of the eyes (open-angle glaucoma). Without appropriate treatment, the gradual increase in fluid pressure may cause increased narrowing of visual
fields and eventual blindness. Other eye (ocular) abnormalities may also be associated with NPS. For example, in some affected individuals, the inner margin (pupillary
margin) of the colored portion of the eyes (irides) may appear abnormally dark (hyperpigmentation) and "cloverleaf shaped" (Lester iris). Approximately 30 to 40
percent of individuals with NPS may also develop abnormalities in kidney function (nephropathy) that may be apparent during childhood or later in life. Nail-patella
Syndrome is inherited as an autosomal dominant trait.
Narcolepsy 陣發型睡病 : a disabling neurological disorder of sleep regulation that affects the control of sleep and wakefulness. It may be described as an intrusion of
the dreaming state of sleep (called REM or rapid eye movement sleep) into the waking state. Symptoms generally begin between the ages of 15 and 30. The four classic
symptoms of the disorder are excessive daytime sleepiness; cataplexy (sudden, brief episodes of muscle weakness or paralysis brought on by strong emotions such as
laughter, anger, surprise or anticipation); sleep paralysis (paralysis upon falling asleep or waking up); and hypnagogic hallucinations (vivid dream-like images that occur
at sleep onset). Disturbed nighttime sleep, including tossing and turning in bed, leg jerks, nightmares, and frequent awakenings, may also occur. The development,
number and severity of symptoms vary widely among individuals with the disorder. It is probable that there is an important genetic component to the disorder as well.

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 Unrelenting excessive sleepiness is usually the first and most prominent symptom of narcolepsy. Patients with the disorder experience irresistible sleep attacks,
throughout the day, which can last for 30 seconds to more than 30 minutes, regardless of the amount or quality of prior nighttime sleep. These attacks result in episodes
of sleep at work and social events, while eating, talking and driving, and in other similarly inappropriate occasions. Although narcolepsy is not a rare disorder, it is often
misdiagnosed or diagnosed only years after symptoms first appear. Early diagnosis and treatment, however, are important to the physical and mental well-being of the
affected individual.
There is presently no cure for narcolepsy; however, the symptoms can be controlled with behavioral and medical therapy. The excessive daytime sleepiness may be
treated with stimulant drugs, while cataplexy and other REM-sleep symptoms may be treated with antidepressant medications. At best, medications will reduce the
symptoms, but will not alleviate them entirely. Also, many currently available medications have side effects. Basic lifestyle adjustments such as regulating sleep schedules,
scheduled daytime naps and avoiding "over-stimulating" situations may also help to reduce the intrusion of symptoms into daytime activities.
Broughton, R. Narcolepsy. In Handbook of Sleep Disorders. Marcel Decker, Inc., New York, 197-216 (1990).
Moscovitch, A, Partinen, M, and Guilleminault, C. The positive diagnosis of narcolepsy and narcolepsy's borderland. Neurology, 43; 55-60 (1993).
Bassetti, C, and Aldrich, M. Narcolepsy. Neurologic Clinics, 14; 545-571 (1996).
National Commission on Sleep Disorders Research Wake up America: A National Sleep Alert, Volume 1. Executive Summary and Executive Report. Report of the
National Commission on Sleep Disorders Research, DHHS, (January 1993).
Aldrich, M. The clinical spectrum of narcolepsy and idiopathic hypersomnia. Neurology, 46; 393-401 (1996).
Nelson Syndrome : a disorder characterized by abnormal hormone secretion and enlargement of the pituitary gland (hypophysis). It occurs in 5 to 10 percent of affected
individuals following surgical removal of the adrenal glands for Cushing Disease. Symptoms associated with Nelson Syndrome include inten se skin discoloration
(hyperpigmentation), headaches, visual field disturbances, and the cessation of menstrual periods in women.
Nemaline Myopathy : a rare inherited neuromuscular disease that is usually apparent at birth (congenital) and characterized by extreme muscle weakness (hypotonia).
Laboratory examination of muscle tissue samples from people with Nemaline Myopathy reveal the presence of fine fibrous threads known as nemaline rods that interfere
with the muscle function.
Neu Laxova Syndrome : a very rare life-threatening disorder thought to be inherited as an autosomal recessive genetic trait. Major characteristics of this disorder are
generalized swelling especially of the scalp, hands, and feet; unusual facial features; a small head; restricted limb movement due to fixed joints; fetal growth retardation;
abnormalities of the central nervous system; and abnormal skin changes.
Neurasthenia : a mental disorder triggered by stress or anxiety. Symptoms may include weakness or fatigue, which may be accompanied by chest pain. Additional findings
may include rapid intense heartbeat that may be irregular (palpitations, tachycardia); cold, clammy hands and feet; abnormally rapid breathing (hyperventilating);
dizziness or faintness; periodic sighing; and/or sweating for no apparent reason.
Neuroacanthocytosis : a very rare disorder inherited as an autosomal recessive or possibly an autosomal dominant genetic trait. Onset of Neuroacanthocytosis usually
occurs during adolescence or early adulthood. Major symptoms of this disorder are wasting of muscles with uncontrolled rapid muscular movements (amyotropic chorea)
and abnormal red blood cells (acanthocytosis).
Neurofibromatoses 神經纖維瘤: are genetic disorders of the nervous system that primarily affect the development and growth of neural (nerve) cell tissues. These
disorders cause tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities. Although many affected persons inherit the
disorder, between 30 and 50 percent of new cases arise spontaneously through mutation (change) in an individual's genes. Once this change has taken place, the
mutant gene can be passed on to succeeding generations. Scientists have classified the disorders as neurofibromatosis type 1 (NF1) and neurofibromatosis type 2
(NF2). NF1 is the more common type of the neurofibromatoses. In diagnosing NF1, a physician looks for changes in skin appearance, tumors, or bone abnormalities,
and/or a parent, sibling, or chil with NF1. Symptoms of NF1, particularly those on the skin, are often evident at birth or during infancy and almost always by the time a
child is about 10 years old. NF2 is less common. NF2 is characterized by bilateral (occurring on both sides of the body) tumors on the eighth cranial nerve. The tumors
cause pressure damage to neighboring nerves. To determine whether an individual has NF2, a physician looks for bilateral eighth nerve tumors and similar signs and
symptoms in a parent, sibling, or child. Affected individuals may notice hearing loss as early as the teen years. Other early symptoms may include tinnitus (ringing noise
in the ear) and poor balance. Headache, facial pain, or facial numbness, caused by pressure from the tumors, may also occur.
Treatments for both NF1 and NF2 are presently aimed at controlling symptoms. Surgery can help some NF1 bone malformations and emove painful or disfiguring tumors;
however, there is a chance that the tumors may grow back and in greater numbers. In the rare instances when tumors become malignant (3 to 5 percent of all cases),
treatment may include surgery, radiation, or chemotherapy. For NF2, improved diagnostic technologies, such as MRI, can reveal tumors as small as a few millimeters in
diameter, thus allowing early treatment. Surgery to remove tumors completely is one option but may result in hearing loss. Other options include partial removal of tumors,
radiation, and if the tumors are not progressing rapidly, the conservative approach of watchful waiting. Genetic testing is available for families with documented cases of
NF1 and NF2. New (spontaneous) mutations cannot be confirmed genetically. Prenatal diagnosis of familial NF1 or NF2 is also possible utilizing amniocentesis or
chorionic villus sampling procedures.
Neurofibromatosis Type 1 (NF-1) 神經纖維瘤第一型: also called von Recklinghausen's Disease, is a rare genetic disorder characterized by the
development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas) and areas of abnormally decreased or increased coloration (hypo- or
hyperpigmentation) of the skin. Areas of abnormal pigmentation typically include pale tan or light brown discolorations (cafe-au-lait spots) on the skin of the trunk and
other regions as well as freckling, particularly under the arms (axillary) and in the groin (inguinal) area. Such abnormalities of skin pigmentation are often evident by one
year of age and tend to increase in size and number over time. At birth or early childhood, affected individuals may have relatively large benign tumors that consist of
bundles of nerves (plexiform neurofibromas). Individuals with NF-1 may also develop benign tumor-like nodules of the colored regions of the eyes (Lisch nodules) or
tumors of the optic nerves (second cranial nerves), which transmit nerve impulses from the innermost, nerve-rich membrane of the eyes (retinas) to the brain. More
rarely, affected individuals may develop certain malignant (cancerous) tumors. NF-1 may also be characterized by unusual largeness of the head (macrocephaly) and
relatively short stature. Additional abnormalities may also be present, such as episodes of uncontrolled electrical activity in the brain (seizures); learning disabilities;
speech difficulties; abnormally increased activity (hyperactivity); and skeletal malformations, including progressive curvature of the spine (scoliosis), bowing of the lower
legs, and improper development of certain bones. In individuals with NF-1, associated symptoms and findings may vary greatly in range and severity from case to case.
NF-1 is caused by changes (mutations) of a relatively large gene on the long arm (q) of chromosome 17 (17q11.2). The gene regulates the production of a protein known
as neurofibromin, which is thought to function as a tumor suppressor. In about 50 percent of individuals with NF-1, the disorder results from spontaneous (sporadic)
mutations of the gene that occur for unknown reasons. In others with the disorder, NF-1 is inherited as an autosomal dominant trait. The name "Neurofibromatosis" is
sometimes used generally to describe NF-1 as well as a second, distinct form of NF known as Neurofibromatosis Type II (NF-2). Also an autosomal dominant disorder,
NF-2 is primarily characterized by benign tumors of both acoustic nerves, leading to progressive hearing loss. The auditory nerves (eight cranial nerves) transmit nerve
impulses from the inner ear to the brain.
Neurofibromatosis Type 2 (NF-2) 神經纖維瘤第二型: a rare genetic disorder that is primarily characterized by benign (noncancerous) tumors of the nerves
that transmit sound impulses from the inner ears to the brain (bilateral acoustic neuromas). Associated symptoms and findings may become evident during childhood,
adolescence, or early adulthood. Depending on the exact location and size of the acoustic neuromas, such findings may include disturbances of balance and walking
(gait); dizziness; headache; facial weakness, numbness, or pain; ringing in the ears (tinnitus); and/or progressive hearing loss. In some individuals with NF-2, additional
abnormalities may also be present. These may include loss of transparency of the lenses of the eyes (juvenile posterior subcapsular opacities), progressive visual
impairment, or an increased risk of developing certain tumors of the brain and spinal cord (central nervous system). NF-2 results from changes (mutations) of a gene
on the long arm (q) of chromosome 22 (22q12.2). The NF-2 gene regulates the production of a protein that functions as a tumor suppressor. In some individuals with
NF-2, the disorder is caused by new (sporadic) mutations of the gene that occur for unknown reasons. In other affected individuals, NF-2 is inherited as an autosomal
dominant trait. The term "Neurofibromatosis" is sometimes used generally to describe a second, distinct form of NF known as Neurofibromatosis Type I (NF-1) as well as
NF-2. More common than NF-2, NF-1 is primarily characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas) and
areas of abnormally decreased or increased coloration (hypo- or hyperpigmentation) of the skin, such as pale tan or light brown discolorations (cafe-au-lait spots) on the
skin of the trunk or other regions. In contrast, in individuals with NF-2, benign fibrous tumors of the skin (cutaneous neurofibromas) and areas of abnormal pigmentation
are considered relatively rare. As with NF-2, NF-1 may be inherited as an autosomal dominant trait or appear to occur randomly due to new (sporadic) genetic changes.
Neuroleptic Malignant Syndrome 精神病用藥引發之惡性徵候: a potentially fatal reaction to any of a group of antipsychotic drugs or major
tranquilizers (neuroleptics). These drugs are commonly prescribed for the treatment of schizophrenia and other neurological, mental, or emotional disorders.
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 Phenothiazines are one type of neuroleptic and may occasionally be prescribed as a treatment for nausea and vomiting. Several of the most commonly prescribed
neuroleptics include thioridazine, haloperidol, chlorpromazine, fluphenazine and perphenazine. Major tranquilizers or neuroleptics have a strong effect on thought
disturbances associated with paranoid thinking, delusions, anxiety, and agitation. Neuroleptic Malignant Syndrome occurs when a person taking these drugs reacts with
a high fever and other heart, respiratory, and muscle symptoms.
Neuropathy, Congenital Hypomyelination : a neurological disorder present at birth. Major symptoms may include respiratory difficulty, muscle weakness and
incoordination, poor muscle tone, absence of reflexes, difficulty in walking, and/or impaired abilities to feel or move part of the body.
Neuropathy, Giant Axonal : a genetic disorder that first appears during infancy. Major symptoms and findings may include kinky hair, unusual leg posture, poor vision,
impaired muscle coordination (ataxia) and weakness, and degenerative mental functioning (dementia).
Neuropathy, Hereditary Sensory, Type I (HSN I) : a rare genetic disorder characterized by the loss of sensation, especially in the feet and legs and, less severely,
in the hands and forearms. The loss of sensation is caused by abnormal functioning of the autonomic nervous system, which controls responses to pain and
temperature as well as other involuntary or automatic body processes. Hereditary Sensory Neuropathies of various types may attack a single nerve (mononeuropathy,
mononeuritis), or several nerves in asymmetric areas of the body (mononeuritis multiplex), or many nerves simultaneously (polyneuropathy, polyneuritis, multiple
peripheral neuritis). These symptoms may involve sensory, motor, reflex, or blood vessel (vasomotor) functions.
Neuropathy, Hereditary Sensory, Type II : a rare genetic disorder that usually begins in childhood. Major symptoms include inflammation of the fingers or toes
especially around the nails, usually accompanied by pus and infection (paronychia, whitlows), ulcers (open sores) of the fingers and on the soles of the feet, and a loss
of sensation noticeable in both arms and legs.
Neuropathy, Peripheral : a general term that denotes a disorder of the peripheral nervous system. The peripheral nervous system consists of all the motor and sensory
nerves that connect the brain and spinal cord to the rest of the body (i.e., the nerves outside the central nervous system). The symptoms and physical findings
associated with peripheral neuropathies may be extremely complex and vary greatly from case to case. Common findings associated with peripheral neuropathy may
include muscle weakness; pain; numbness; redness; and/or burning or tingling sensations in the affected areas, especially the arms and legs (extremities). Symptoms
and physical findings result from disease of a single nerve (mononeuropathy or mononeuritis), several nerves in asymmetric areas of the body (mononeuritis multiplex),
or many nerves simultaneously (polyneuropathy, polyneuritis, or multiple peripheral neuritis). There are many different causes of peripheral neuropathy including trauma,
fracture, penetrating injuries, and/or an underlying disease process.
Neutropenia, Cyclic 嗜中性球減少: a rare blood disorder characterized by recurrent episodes of abnormally low levels of certain white blood cells (neutrophils) in
the body. Neutrophils are instrumental in fighting off infection by surrounding and destroying bacteria that enter the body. Symptoms associated with cyclic neutropenia
may include fever, a general feeling of ill health (malaise), and/or sores (ulcers) of the mucous membranes of the mouth. In most cases, individuals with low levels of
neutrophils (neutropenia) are abnormally susceptible to recurrent infections.
Neutropenia, Severe Chronic : a rare blood disorder characterized by abnormally low levels of certain white blood cells (neutrophils) in the body (neutropenia).
Neutrophils play an essential role in fighting bacterial infections by surrounding and destroying invading bacteria (phagocytosis). Symptoms associated with severe
chronic neutropenia include recurring fevers, mouth sores (ulcers), and/or inflammation of the tissues that surround and support the teeth (periodontitis). Due to low
levels of neutrophils, affected individuals may be more susceptible to recurring infections that, in some cases, may result in life-threatening complications. Severe
chronic neutropenia may last for months or years and can affect both children and adults. There are three main forms of the disorder: congenital, idiopathic, and cyclic
neutropenia. Severe chronic neutropenia may be inherited or acquired or may occur for unknown reasons (idiopathic).
Nevoid Basal Cell Carcinoma Syndrome : a form of cancer characterized by the appearance of lesions and the development of multiple cysts and bony
formations of the face and head. The lesions may be found on the first layer of the skin (epidermis) or in the mucous membranes of the mouth. The connective tissues
and the nervous and vascular (blood vessel) systems of the body may also be affected. The skin lesions are limited in size, but not in number, and are not usually due to
any external causes.
Nezelof's Syndrome : an extremely rare immune deficiency disorder characterized by the impairment of cellular immunity against infections, especially by those agents
that do not normally cause serious illness (opportunistic infections). In cell-mediated immune responses, specialized white blood cells known as T lymphocytes or "killer
cells" help B lymphocytes respond to infectious foreign agents that invade the body. Nezelof's Syndrome may also include some abnormalities in humoral immunity. In
this form of immune response, antibodies that are produced by specialized cells (i.e., B lymphocytes) circulate in the lymphatic fluid and blood. Antibodies fight off
bacteria, viruses, and other foreign substances that threaten the body. B lymphocytes enable the body to produce and maintain circulating antibodies. In a subgroup of
people with Nezelof's Syndrome, immune deficiency may be caused by a lack of the enzyme purine nucleoside phosphorylase (PNP).
Niemann Pick Disease 尼曼-皮克氏病( 一種鞘髓磷脂貯積症 ): a group of rare inherited metabolic disorders of fat metabolism. Excessive amounts
of cholesterol and a fatty substance found mostly in the brain and nervous system (sphingomyelin) accumulate in many organs of the body (spleen, liver, lungs, bone
marrow ). Symptoms occur as a result of a deficiency of the enzyme sphingomyelinase, which breaks down sphingomyelin. The clinical designations applied to NP are
somewhat erratic. Patients are currently subdivided into 4 categories. In the first, called type A, enlargement of the liver and spleen are apparent early in infancy and
profound brain damage is evident. These children rarely live beyond 18 months. In the second group, called type B, enlargement of the liver and spleen characteristically
occur in the pre-teen years. Most of these patients also have pulmonary difficulties, but the brain is not affected. The fatty material that accumulates in types A and B is
called sphingomyelin. This lipid is a major component of the membrane of all cells in the body. The metabolic defect in types A and B is insufficient activity of an enzyme
called sphingomyelinase that initiates the biodegradation of sphingomyelin that arises from normal cell turnover. The term NP also includes 2 other variant forms called
types C and D. Patients with these types have only moderate enlargement of their spleens and livers. They have brain involvement that can be extensive leading to
inability to look up and down, difficulty in walking and swallowing, as well as progressive loss of vision and hearing. The disorder may appear early in life or its onset may
be delayed into the teen years. Both types are characterized by an inability to mobilize cholesterol in the nerve cells in the brain where it accumulates and causes
malfunction of these cells. The only difference between these two subtypes is that type D arises in people with a common ancestral background in Nova Scotia.
There is currently no effective treatment for patients with type A. Bone marrow transplantation has been attempted in a few patients with type B, and encouraging results
have been reported. Since type B resembles type 1 Gaucher's disease to a considerable degree, one might anticipate that enzyme replacement, and ultimately gene
therapy, will eventually be helpful for these patients. Patients with types C and D are frequently placed on a low-cholesterol dietary regimen.
The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick disease. Proceedings of the National Academy of Science, USA, 55;
366-369 (1966).
Niemann-Pick Disease Types A and B: Acid Sphingomyelinase Deficiencies Chapter 84 in The Metabolic and Molecular Bases of Inherited Disease, 7th edition,
McGraw Hill, In., New York, pp. 2601-2624 (1995).
Neimann-Pick Disease Type C: A Cellular Cholesterol Lipidosis Chapter 85 in The Metabolic and Molecular Bases of Inherited Disease, 7th edition, McGraw-Hill, Inc.,
New York, pp. 2625-2639 (1995).
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis Science, 277; 228-232 (1997).
Nocardiosis 土壤絲菌病 : an infectious pulmonary disease characterized by abscesses in the lungs. These abscesses may extend through the chest wall. The
infection is spread through the bloodstream by a microorganism called Nocardia asteroides.
Non Ketotic Hyperglycinemia 非酮症性高甘胺酸血症 : a genetic disorder characterized by an error of amino acid metabolism. Large amounts of the
amino acid glycine tend to accumulate in body fluids particularly in the cerebrospinal fluid. The metabolic block occurs in the conversion of glycine into smaller molecules.
Severe illness usually occurs soon after birth and many patients become mentally retarded and/or develop seizure disorders.
Noonan Syndrome : a rare genetic disorder that is typically evident at birth (congenital). The disorder may be characterized by a wide spectrum of symptoms and
physical features that vary greatly in range and severity. In many affected individuals, associated abnormalities include a distinctive facial appearance; a broad or
webbed neck; a low hairline in the back of the head; and short stature. Characteristic abnormalities of the head and facial (craniofacial) area may include widely set eyes
(ocular hypertelorism); vertical skin folds that may cover the eyes' inner corners (epicanthal folds); drooping of the upper eyelids (ptosis); a small jaw (micrognathia); a
low nasal bridge; and low-set, prominent, abnormally rotated ears (pinnae). Distinctive skeletal malformations are also typically present, such as abnormalities of the
breastbone (sternum), curvature of the spine (kyphosis and/or scoliosis), and outward deviation of the elbows (cubitus valgus). Many infants with Noonan syndrome also
have heart (cardiac) defects, such as obstruction of proper blood flow from the lower right chamber of the heart to the lungs (pulmonary valvular stenosis). Additional
abnormalities may include malformations of certain blood and lymph vessels, blood clotting and platelet deficiencies, mild mental retardation, failure of the testes to
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 descend into the scrotum (cryptorchidism) by the first year of life in affected males, and/or other symptoms and findings. In some affected individuals, Noonan
syndrome appears to result from spontaneous (sporadic) genetic changes (mutations). In others, the disorder may be transmitted as an autosomal dominant trait.
Genetic analysis of one affected multigenerational family (kindred) suggests that the disorder may result from mutations of a gene located on the long arm (q) of
chromosome 12 (12q24). However, many investigators indicate that Noonan syndrome may be caused by mutations of different genes (genetic heterogeneity).
Norrie Syndrome : a rare inherited neurodevelopmental disorder characterized by blindness in both eyes (bilateral) at birth. Some children with this disorder may
experience varying degrees of mental retardation. Other symptoms may include mild to profound hearing loss, growth delays, and/or diabetes. The lens of the eyes may
become cloudy (cataracts) during early infancy and the eyeball may shrink (phthisis bulbi). The gene responsible for Norrie Syndrome is inherited as an X-linked
recessive genetic trait.
Nystagmus, Benign Paroxysmal Positional : a disorder of the vestibular system in the middle ear that causes dizziness due to altered function of the
semicircular canals, usually the posterior canal. The disorder is paroxysmal because the dizziness takes place without warning; it is positional because the symptoms
increase with certain movements of the head or body. Abnormal eye movements or nystagmus accompanies the dizziness.

O
Obsessive Compulsive Disorder 強迫觀念及強迫行為: is characterized by recurrent habitual obsessive or compulsive thoughts or actions. These
obsessions and compulsions may become very distressing and time-consuming. In severe cases they can significantly interfere with a person's normal routine,
occupational functioning, usual social activities or relationships with others.
Ochoa (urofacial) syndrome : also known as hydronephrosis with peculiar facial expression, is an extremely rare inherited disorder characterized by an abnormal
facial expression and obstructive disease of the urinary tract (uropathy) that are present at birth (congenital). When affected infants smile, their facial musculature turns
upside down or "inverts" so that they appear to be grimacing or crying. The urinary abnormality is an obstructive uropathy in which failure of nerve signals between the
bladder and the spinal cord results in incomplete emptying of the bladder (neurogenic or neuropathic bladder). In addition, neurogenic bladder may result in involuntary
discharge of urine (enuresis), urinary tract infections, and/or abnormal accumulation of urine in the kidneys (hydronephrosis). Additional abnormalities may include
inflammation of the kidneys and pelvis (pyelonephritis), backflow of urine into the tubes that carry urine from the kidney to the bladder (vesicoureteral reflex), and/or
involuntary spasms of the ring of muscle around the anus (external sphincter). In some cases, affected individuals may develop renal failure during adolescence or the
early 20s, potentially leading to life-threatening complications. Ochoa syndrome has been identified as an autosomal recessive genetic trait.
Oculo Dento Digital Dysplasia : a rare disorder that may be inherited as an autosomal dominant trait or be caused by a new change in the genes that occurs for no
apparent reason (mutation). Major symptoms of Oculo-Dento-Digital Dysplasia are webbing of the fourth and fifth fingers, an abnormally small transparent part of the eye
(microcornea), a slender nose with narrow nostrils, underdevelopment of the outer flaring wall of each nostril (alae), defective enamel and dry hair that grows slowly.
Oculocerebral Syndrome with Hypopigmentation : an extremely rare inherited disorder characterized by the lack of normal color (hypopigmentation) of the
skin and hair and abnormalities of the central nervous system that affect the eyes and certain parts of the brain (oculocerebral). Physical findings at birth include
unusually light skin color and silvery-gray hair. Abnormal findings associated with the central nervous system may include abnormal smallness of one or both eyes
(microphthalmia); clouding (opacities) of the front, clear portion of the eye through which light passes (cornea); and/or rapid, involuntary eye movements (nystagmus).
Additional symptoms that may develop during infancy include involuntary muscle contractions, associated loss of muscle function (spastic paraplegia), developmental
delays, and/or mental retardation. Oculocerebral Syndrome with Hypopigmentation is believed to be inherited as an autosomal recessive genetic trait.
Oculocerebrocutaneous Syndrome : a rare congenital disorder that may occur for no apparent reason (sporadically) or may be inherited as an autosomal dominant
trait. Affected individuals may have cysts in the orbit of the eye, malformations of the brain including cysts in the cavities, small brown or flesh colored tags of skin in the
orbit of the eyes and front of the ears, skin lesions on the head and trunk, and seizures.
Olivopontocerebellar Atrophy (OPCA) : a group of inherited forms of Ataxia characterized by progressive neurological degeneration affecting the
olivopontocerebellar area of the brain (the cerebellum, the pons and the inferior olives.). These inherited forms include Menzel type I, Fickler-Winkler type II, retinal
degeneration type III, Schut-Haymaker type IV, and ophthalmoplegia (paralysis of facial and eye muscles) type 5 OPCA. However, cases have occurred that have defied
classification in any of these five categories.
OPCA may be classified based on clinical, genetic, or neuropathological findings; thus, there are many classifications of the disorder. Among the different classifications
there is wide variation in severity and age of onset. The symptoms of OPCA differ from person to person. Most patients experience difficulty with balance and coordination
of the legs and arms (ataxia) and slurred speech (dysarthria). Other symptoms may include muscle spasms or weakness and stiffness of the muscles; numbness or
tingling of the hands or feet; tremor (shaking) of the hand or arm; reduction or slowness of movements; loss of thinking and/or memory skills; difficulty controlling the
bladder or bowels; and feeling faint when standing up. Some patients also have fatigue and/or trouble with sleep. Generally symptoms of OPCA begin in mid-adult life and
progress slowly over the course of many years.
There is no specific treatment for OPCA. Physicians may try different medications to treat the ataxia, tremor and rigidity that are associated with the disorder. Other
treatments are directed at specific symptoms. Stiffness, spasms, sleep disorders, depression, and tremor may be improved with medication. A physical therapist may be
helpful in establishing a routine of exercise and stretching, and in obtaining devices or appliances to assist in walking and other daily activities.
Gilman, S, and Quinn, N. The relationship of multiple system atrophy to sporadic olivopontocerebellar atrophy and other forms of idiopathic late-onset cerebellar atrophy
Neurology, 46:5; 2297-2299 (May 1996)
Harding, A. Clinical features and classification of inherited ataxias In Advances in Neurology, vol. 61, Raven Press, New York, pp. 1-14 (1993)
Penney, J. Multiple systems atrophy and nonfamilial olivopontocerebellar atrophy are the same disease Annals of Neurology, 37:5; 553-554 (May 1995)
Quinn, N. Multiple system atrophy In Movement Disorders 3, Butterworth-Heinemann, London, pp. 262-281 (1994)
Rosenberg, R. Autosomal dominant cerebellar phenotypes: the genotype has settled the issue Neurology, 45; 1-5 (1995)
Wenning, G, Tison, F, Elliott, L, Quinn, N, and Daniel, S. Olivopontocerebellar pathology in multiple system atrophy Movement Disorders, 11:2; 157-162 (1996)
Ollier Disease : a rare skeletal disorder characterized by abnormal bone development (skeletal dysplasia). This disorder is present at birth (congenital); however it may not
be apparent until early childhood when certain symptoms, such as deformities or improper limb growth, are observed. Ollier disease primarily affects the long bones and
cartilage in the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet (metaphyses). The pelvis is often involved; in rare cases,
the ribs, breast bone (sternum), and/or skull may also be affected. Deformities may also develop in the wrists and ankles. In Ollier disease an overgrowth of cartilage
in the long bones of the arms and legs results in abnormal bone growth and thinning of the outer layer (cortex) of the bone. These masses of cartilage are benign
(non-cancerous) tumors known as enchondromas. The growth of enchondromas can occur anytime. After puberty these growths stabilize as cartilage is replaced by
bone. In rare cases, the enchondromas may undergo malignant changes (e.g., chondrosarcomas). The exact cause of Ollier disease is not known although some cases
may be inherited as an autosomal dominant genetic trait.
Opitz Syndrome : a genetic disorder that may be evident at birth. The syndrome may be characterized by distinctive malformations of the head and facial (craniofacial)
area, including widely set eyes (ocular hypertelorism); an abnormal groove in the upper lip (cleft lip); incomplete closure of the roof of the mouth (cleft palate); upwardly
or downwardly slanting eyelid folds (palpebral fissures); vertical skin folds that may cover the eyes' inner corners (epicanthal folds); or a wide, flat nasal bridge. In
addition, in affected males, abnormalities typically include failure of the testes to descend into the scrotum (cryptorchidism), clefting of the scrotum (bifid scrotum), or
abnormal placement of the urinary opening (meatus) on the underside of the penis (hypospadias). Affected individuals may also have malformations of the windpipe
(trachea) and the larynx, which connects the trachea and the throat (pharynx); underdevelopment of the lungs (pulmonary hypoplasia); and associated swallowing and
breathing difficulties. Opitz Syndrome may also be characterized by additional abnormalities, including partial or complete closure of the anal opening (imperforate anus);
underdevelopment or absence of the thick band of nerve fibers that joins the two hemispheres of the brain (hypoplasia or agenesis of the corpus callosum); kidney (renal)
abnormalities; heart (cardiac) defects; or mental retardation. Opitz Syndrome was originally categorized as two distinct disorders: i.e., Opitz G and Opitz BBB
Syndromes. Yet many investigators have since determined that the disorders represent the same clinical entity with different modes of genetic transmission. The form of
the disorder previously designated as Opitz BBB Syndrome is transmitted as an X-linked trait. This X-linked disorder appears to be caused by changes (mutations) of a
gene, known as MID1 (for "midline-1"), that is located on the short arm (p) of chromosome X (Xp22). The form originally classified as Opitz G Syndrome is inherited as
an autosomal dominant trait. It is thought to result from deletions of genetic material from the long arm (q) of chromosome 22 (22q11.2).
Opportunistic Infections : are mild to severe infectious diseases in a compromised host. The infections are caused by microorganisms that normally do not cause
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 serious disease in healthy people. These infections may occur in individuals whose immune system or other physiological defenses are impaired or compromised in
some way. The inability to resist such opportunistic infections is usually caused by an underlying disease or trauma, or from procedures and/or drugs that are used to
treat another medical condition. Opportunistic infections may be caused by bacteria, fungi, viruses, or parasites. Symptoms vary according to the microorganism
involved and the extent of involvement. Treatment or medical management of opportunistic infections may be difficult because some of these microorganisms may be
resistant to standard antibiotic therapy. In some cases an affected individual may have a dysfunctional immune system (compromised) that is not able to fight the
infection.
Oral Facial Digital Syndrome (OFD) : an umbrella term for several apparently distinctive genetic modifications. Symptoms include frequent episodic neuromuscular
disturbances, congenital malformations such as cleft palate, other facial deformities, malformation of the hands and feet, shortened limbs and differing degrees of mental
retardation.
Organic Mood Syndrome : a mental disorder due to physical causes. Either "manic" symptoms of unusual euphoria or irritability, or "depressive" symptoms of
despondency, fear, anxiety, or suspiciousness may be present. Other symptoms may be present as well.
Organic Personality Syndrome: or Organic Mental Syndrome is a mental disorder characterized by a short-term or long-term personality disturbance largely due to
brain dysfunction. The ability to reason, remember, imagine, and learn may not be affected, but the individual's judgement may be so poor that continual supervision may
be necessary. Left unattended, he or she may behave in ways that could cause difficult or dangerous problems.
Ornithine Transcarbamylase Deficiency 鳥胺酸氨甲醯基轉移脢缺乏症: a rare inborn error of metabolism and one of six inherited disorders of the
urea cycle. The urea cycle is a series of chemical reactions in the liver that break down ammonia into urea. Ammonia is toxic to the body. Urea cycle disorders are
caused by deficiencies of certain proteins (enzymes) that act to break down the ammonia into urea that is then eliminated from the body. These enzyme deficiencies
cause an abnormal accumulation of ammonia in the blood and body tissues.
Orocraniodigital Syndrome : an extremely rare inherited disorder characterized by multiple malformations of the head and face (craniofacial area) and the fingers and
toes (digits). Major characteristics may include a vertical groove in the upper lip (cleft lip) and/or the inside, upper portion of the mouth (cleft palate), an abnormally small
head (microcephaly), widely-spaced eyes (ocular hypertelorism), improper development (hypoplasia) of the thumbs and/or toes, and/or webbing (syndactyly) of the toes.
In some cases, malformations of certain skeletal bones may also be present. Mental retardation has occurred in the majority of cases. Orocraniodigital Syndrome may
be inherited as an autosomal recessive genetic trait.
Osgood Schlatter's Disease : is characterized by abnormal bone and cartilage formation in the bone located between the knee and the ankle (tibia). Affected
individuals may experience pain, swelling, and tenderness of the knee and ankle.
Osteogenesis Imperfecta : is characterized by unusually fragile bones that break or fracture easily. There are generally considered to be 4 types of this disorder, some
with subtypes. The congenital form, type II, is the most severe; affected infants are either stillborn or die shortly after birth of respiratory insufficiency. Other forms of
Osteogenesis Imperfecta range from mild to severe.
Osteomyelitis : a common inflammation of the bone caused by bacteria, frequently Staphylococcus. This disorder is usually due to an infection in another part of the body
that is transported through the bloodstream to a bone in a distant location. It can be an acute or chronic condition.
Osteonecrosis 骨壞死: the destruction of a bone (necrosis) often due to an inadequate supply of blood to a bone. It most commonly affects the joints and bones of the
hips, knees and shoulder. It often occurs as a result of bone injuries or in conjunction with other diseases and conditions.
Osteopetrosis 骨質石化病: may be inherited as either a dominant or recessive trait and is marked by increased bone density, brittle bones, and, in some cases,
skeletal abnormalities. Although symptoms may not initially be apparent in people with mild forms of this disorder, trivial injuries may cause bone fractures due to
abnormalities of the bone. The adult type of osteopetrosis is milder than the malignant infantile and intermediate types of osteopetrosis, and may not be diagnosed until
adolescence or adulthood when symptoms first appear. More serious complications occur in the malignant infantile and intermediate types of osteropetrosis that may be
diagnosed from examination of skeletal x-rays during infancy or childhood.
Oto-Palatal-digital syndrome, type I (Taybi syndrome) & type II (Andre syndrome) : are rare genetic disorders in which complete expression of the
disease shows up only in males. Females may be mildly affected with some of the symptoms. Type I OPD is inherited through an X-linked recessive trait with variable
expression in females while Type II OPD is inherited through an X-linked semi-dominant trait. OPD Type I is typically a milder disorder with fewer symptoms. Some of the
characteristics of both disorders may include cleft palate, a downward slant of the opening between the upper and lower eyelids, hearing loss, and short fingers and
toes.

P
Pachydermoperiostosis 厚皮並併發骨贅 : a rare disorder thought to be inherited as an autosomal dominant trait. This disorder typically appears during
childhood or adolescence and progresses slowly for about ten years. Symptoms of Pachydermoperiostosis may be enlargement of the fingers and toes (clubbing), a
condition in which there is a fibrous covering on the ends of the long bones (periostosis), coarse facial features, increased bulk of the skin on the scalp forming folds,
depressions or furrows (cutis verticis gyrata), and/or excessive sweating of the hands and feet.
Paget's disease of the bone 變型性骨炎 : Paget's disease of the bone is a chronic, slowly progressive skeletal condition of abnormally rapid bone destruction
(osteolytic) and reformation (osteoblastic). The new bone is structurally abnormal, dense and fragile. The bones most frequently affected are in the spine, skull, pelvis
and lower legs. The exact cause of Paget� s disease is not known.
Paget's disease of the breast 乳頭癌樣感染 : a very rare form of cancer. It is characterized by skin changes resembling eczema around the nipple and
breast. It may also occur in the skin areas of the genitals and rectum. When it spreads to these areas of the body Paget's Disease of the Breast is called Extramammary
Paget's Disease. Paget's Disease of the Breast often signals the existence of other internal cancer. It can occur in men as well as women. Paget's Disease of the Breast
is not Paget's Disease of the bones.
Pallister-Hall syndrome (PHS) : an extremely rare genetic disorder that may be apparent at birth (congenital). The symptoms and findings associated with the
disorder may vary greatly in range and severity from case to case. However, in many individuals with Pallister-Hall Syndrome, associated abnormalities may include a
benign (non-cancerous) tumor of the hypothalamus (hypothalamic hamartomablastoma), a portion of the brain that coordinates the function of the pituitary gland and has
several other functions; decreased pituitary function (hypopituitarism); the presence of extra (supernumerary) fingers and/or toes (central or postaxial polydactyly);
and/or a condition in which a thin covering blocks the anal opening or the passage that normally connects the anus and the lowest part of the large intestine (rectum)
fails to develop (imperforate anus). Additional symptoms and findings may include inhibition of the normal flow of cerebrospinal fluid (CSF) in the brain, causing
abnormal accumulation of CSF in the skull and increased pressure on brain tissue (hydrocephalus); characteristic malformations of the head and facial (craniofacial)
area; and/or other abnormalities. Pallister-Hall Syndrome has autosomal dominant inheritance. Cases in which a positive family history has not been found are thought
to represent new genetic changes (mutations) that occur randomly, with no apparent cause (sporadic).
Pallister-Killian syndrome : a rare chromosomal disorder that occurs for no apparent reason. Major symptoms may include a coarse face with a high forehead,
sparse hair on the scalp, an abnormally wide space between the eyes, a fold of the skin over the inner corner of the eyes, and a broad nasal bridge with a highly arched
palate. Mental retardation, loss of muscle tone, and streaks of skin lacking color are often present.
Pallister W Syndrome: a rare genetic disorder characterized by unusual facial features such as clefting of the palate and the upper lip, a broad flat nose, widely spaced
slanted eyes, and/or downslanting eyelid folds (palpebral fissures). Other symptoms may include mental retardation, speech problems, bone deformities of the arms and
legs, and/or seizures. The exact cause of Pallister W Syndrome is not known.
Pancreatic islet cell tumors : appear in one of two forms. They may be nonfunctioning or functioning tumors. Nonfunctioning tumors may cause obstruction in the
shortest part of the small intestine (duodenum) or in the biliary tract, which connects the liver to the duodenum and includes the gall bladder. These nonfunctioning
tumors may erode and bleed into the stomach and/or the intestines, or they may cause an abdominal mass. Functioning tumors secrete excessive amounts of hormones,
which may lead to various syndromes including low blood sugar (hypoglycemia), multiple bleeding ulcers (Zollinger-Ellison Syndrome), pancreatic cholera
(Verner-Morrison Syndrome), carcinoid syndrome or diabetes. Islet cells are small, isolated masses of cells that make up the Islet of Langerhans in the pancreas. When
functioning normally, they secrete the protein hormones insulin and glucagon. Tumors composed of irregular islet cells may occur alone or in a group of many tumors.
77
 Approximately 90% of islet-cell tumors are noncancerous (benign). They usually range in size from 0.5 to 2 cm in diameter.
Panic-anxiety syndrome : a psychiatric disorder characterized by recurrent and unpredictable anxiety attacks with no apparent cause for the symptoms, such as threat
of danger or attack. Panic-Anxiety Syndrome is believed to be caused by biochemical factors, though the specific cause of the disorder is not yet known.
Panniculitis, Idiopathic Nodular : a rare spectrum of skin disorders characterized by single or multiple, tender or painful bumps below the surface of the skin
(subcutaneous nodules) that usually lead to inflammation of the subcutaneous layer of fat (panniculitis). These nodules tend to be 1-2 centimeters large and most often
affect the legs and feet (lower extremities). In most cases, idiopathic nodular panniculitis is associated with fever, a general feeling of ill health (malaise), muscle pain
(myalgia), and/or abdominal pain. These symptoms may subside after a few days or weeks and may recur weeks, months, or years later. The exact cause of this
disorder is not known (idiopathic).
Papillitis 乳頭炎 : an eye (ocular) condition, is characterized by progressive inflammation of the optic disk. Also referred to as the "blind spot," the optic disk (optic
papilla) is that portion of the optic nerve that enters the eye and joins with the nerve-rich membrane lining the eye (retina). The optic nerves are the pair of nerves
(second cranial nerves) that transmit impulses from the retinas to the brain. Individuals with Papillitis experience loss of vision in one eye that may occur within several
hours of onset. The severity of visual impairment may vary from case to case, ranging from slight visual deficiency to complete loss of light perception. In addition,
affected individuals experience a reduction in color perception. In some cases, spontaneous recovery may occur. However, in other cases, permanent visual impairment
may result if the underlying cause is not detected or treated. Papillitis may occur for unknown reasons, after a viral illness, or due to or in association with a number of
different underlying disorders or other factors.
Papillon Lefevre Syndrome (PLS) : an extremely rare genetic disorder that typically becomes apparent from approximately one to five years of age. PLS is
characterized by the development of dry scaly patches on the skin of the palms and the soles (palmar-plantar hyperkeratosis) in association with severe inflammation
and degeneration of the structures surrounding and supporting the teeth (periodontium). The primary (deciduous) teeth frequently become loose and fall out by about
age five. Without treatment, most of the secondary (permanent) teeth may also be lost by approximately age 17. Additional symptoms and findings associated with PLS
may include frequent pus-producing (pyogenic) skin infections, abnormalities of the nails (nail dystrophy), and excessive perspiration (hyperhidrosis). Papillon-Lefevre
Syndrome is transmitted as an autosomal recessive trait. Genetic analysis of several affected families (kindreds) suggests that the disorder may result from changes
(mutations) of a gene that regulates production of an enzyme known as cathespin C. The gene is located on the long arm (q) of chromosome 11 (11q14).
Paracoccidioidomycosis (PCM) : a chronic infectious tropical disease caused by the fungus Paracoccidioides brasiliensis. The initial infection usually occurs in the
lungs, but may also spread to the skin, mucous membranes, and other parts of the body. Specialized cells that line the walls of blood and lymphatic vessels and dispose
of cellular waste (reticuloendothelial system) may also be affected by Paracoccidioidomycosis. If left untreated, life-threatening complications can occur. Most cases of
this disease occur in South and Central America.
Paramyotonia Congenita 肌強直性痙攣: a rare muscular disorder inherited as an autosomal dominant trait. This nonprogressive disorder is characterized by a
condition in which the muscles do not relax after contracting (myotonia). Symptoms can be triggered by exposure to the cold. There are also intermittent periods of a
type of paralysis in which there is no muscle tone (flaccid paresis). This condition does not necessarily coincide with exposure to cold temperatures or myotonia. There is
no wasting (atrophy) or increase in bulk (hypertrophy) of muscles with this disorder.
Paraplegia, Hereditary Spastic 下身麻痺: (HSP) : a group of inherited neurological disorders characterized by progressive weakness (paraplegia) and
increased muscle tone and stiffness (spasticity) of leg muscles. HSP is also sometimes referred to as familial spastic paraplegia (FSP) or Strumpell-Lorraine syndrome.
The age at symptom onset and the degree of muscle weakness and spasticity may be extremely variable from case to case, including among individuals within the same
family (kindred). According to reports in the medical literature, symptom onset may occur as early as infancy or as late as the eighth or ninth decade of life; however,
symptoms may most often develop during early to mid-adulthood. Initial findings typically include stiffness and relatively mild weakness of leg muscles, balance
difficulties, unexplained tripping and falls, and an unusually "clumsy" manner of walking (gait). As the disorder progresses, walking may become increasingly difficult;
however, complete loss of the ability to walk is relatively rare. HSP may be classified into two major subtypes: "uncomplicated" or "complicated" HSP. In individuals
with uncomplicated (or "pure") HSP, progressive spastic paraplegia occurs as an isolated, primary finding. In those with complicated HSP, additional neurologic
abnormalities are present. Some individuals with uncomplicated HSP may develop muscle spasms and difficulties with bladder control. In those with complicated HSP,
associated symptoms and findings may include visual and/or hearing impairment, mental retardation, impaired control of voluntary movements (ataxia), and/or other
abnormalities. According to researchers, changes (mutations) of many different genes may cause HSP. In most cases, such mutations appear to be transmitted as an
autosomal dominant trait. More rarely, mutations for HSP may be inherited as an autosomal recessive or X-linked recessive trait. The basic underlying defect or defects
in HSP are unknown. However, associated symptoms appear to result from progressive degenerative changes of regions of the spinal cord (corticospinal tracts) that
convey motor impulses from the brain to muscles involved in controlling certain voluntary movements.
Parkinson's Disease 巴金森氏症 a slowly progressive neurologic condition characterized by involuntary trembling (tremor), muscular stiffness or inflexibility
(rigidity), slowness of movement and difficulty carrying out voluntary movements. Degenerative changes occur in areas deep within the brain (substantia nigra and other
pigmented regions of the brain), causing a decrease in dopamine levels in the brain. Dopamine is a neurotransmitter, which is a chemical that sends a signal in the brain.
Parkinsonian symptoms can also develop secondary to hydrocephalus (a condition in which the head is enlarged and areas of the brain accumulate excessive fluids,
resulting in an increase in pressure on the brain), head trauma, inflammation of the brain (encephalitis), obstructions (infarcts) or tumors deep within the cerebral
hemispheres and the upper brain stem (basal ganglia), or exposure to certain drugs and toxins. Parkinson's disease is slowly progressive and may not become
incapacitating for many years.
A variety of medications provide dramatic relief from the symptoms, but no drug can stop the progression of the disease. In some cases, surgery is an appropriate
treatment. Some doctors recommend physical therapy or muscle-strengthening exercises.
Parry Romberg Syndrome : a rare disorder characterized by slowly progressive wasting (atrophy) of the soft tissues of half of the face (hemifacial atrophy); distinctive
changes of the eyes and hair; and neurological abnormalities including episodes of uncontrolled electrical disturbances in the brain (seizures) and episodes of severe
pain in tissues supplied by the fifth cranial nerve (trigeminal nerve) including the mouth, cheek, nose, and/or other facial tissues (trigeminal neuralgia). Symptoms and
physical findings associated with Parry-Romberg Syndrome usually become apparent during the first or early during the second decade of life. In rare cases, the
disorder is apparent at birth. The majority of individuals with Parry-Romberg Syndrome experience symptoms before the age of 20 years. In individuals with the disorder,
initial facial changes usually involve the tissues above the upper jaw (maxilla) or between the nose and the upper corner of the lip (nasolabial fold) and progress to
involve the angle of the mouth, the areas around the eye, the brow, the ear, and/or the neck. In most cases, progressive tissue wasting is limited to one half of the face,
usually the left side. Affected areas may demonstrate shrinkage and atrophy of tissues beneath the skin (subcutaneous tissue), the layer of fat under the skin
(subcutaneous fat), and underlying cartilage, muscle, and bone. In addition, the skin overlying affected areas may become darkly pigmented (hyperpigmentation), with in
some cases certain areas of white (depigmented) patches (vitiligo). Many individuals also experience atrophy of half of the upper lip and tongue as well as abnormal
exposure, delayed eruption, or wasting of the roots of certain teeth on the affected side. In most affected individuals, hemifacial atrophy typically progresses over
approximately three to five years and then ceases. In many cases, hair abnormalities may also appear on the affected side, including whitening (blanching) of the hair as
well as abnormal bald patches on the scalp and loss of eyelashes and the middle (median) portion of the eyebrows (alopecia). In addition, individuals with
Parry-Romberg Syndrome also experience associated neurological abnormalities. These may include severe headaches that last for extended periods of time and may
be accompanied by visual abnormalities, nausea, and vomiting (migraines); facial pain (trigeminal neuralgia); and/or periods of uncontrolled electrical disturbances in the
brain (seizures) that usually are characterized by rapid spasms of a muscle group that spread to adjacent muscles (contralateral Jacksonian epilepsy). The range and
severity of associated symptoms and findings may vary from case to case. In most cases, Parry-Romberg Syndrome appears to occur randomly for unknown reasons
(sporadically).
Pars Planitis : a vision disorder characterized by inflammation of the peripheral retina and pars plana (a section of the ciliary body connected to the retina) sections of the
eye. Fluid and cells can infiltrate the clear gelatin-like substance (vitreous humor) near the retina and/or pars plana. Swelling inside the eye can also occur. These
abnormalities may appear in one or both eyes.
Parsonage Turner Syndrome : also known as Brachial Plexus Neuritis or Neuralgic Amyotrophy, is a common condition characterized by inflammation of a network of
nerves that control and supply (innervate) the muscles of the chest, shoulders, and arms (brachial plexus). Individuals with the condition first experience a sudden onset
of severe pain across the shoulder and upper arm. Within a few hours or days, the muscles of the affected shoulder may be affected by weakness, wasting (atrophy),
and paralysis (atrophic paralysis). Although individuals with the condition may experience paralysis of the affected areas for months or, in some cases, years, recovery is

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 usually complete. The exact cause of Parsonage-Turner Syndrome is not known.
Patulous Eustachian Tube dysfunction : the eustachian tube abnormally remains open constantly. This results from reduced soft tissue mass around this tube.
Symptoms of this disorder occur when the patient's head has been erect for several hours.
Peeling Skin Syndrome : an extremely rare inherited disorder characterized by continual, spontaneous skin peeling (exfoliation). Other findings may include itching
(pruritis), short stature, and/or newly formed hairs that can be plucked more easily than normal. In some cases, affected individuals have the ability to manually remove
sheets of skin. Peeling Skin Syndrome is thought to be inherited as an autosomal recessive genetic trait.
Pelizaeus Merzbacher Brain Sclerosis 貝里流士-墨茲巴克氏腦硬化症: a rare inherited disease of the central nervous system that is associated
with the progressive deterioration of the white matter of the brain. Symptoms develop due to the loss of the fatty covering on nerve fibers (myelin sheath) and the
accumulation of the breakdown products of myelin. Many areas of the central nervous system may be affected including the deep portions of the cerebrum (subcortical),
cerebellum, and/or brain stem. Symptoms may include the impaired ability to coordinate movement (ataxia), loss of motor abilities, and the progressive deterioration of
intellectual function. The symptoms of Pelizaeus-Merzbacher Brain Sclerosis are usually slowly progressive. There are three forms of the disease: Classical X-Linked
Pelizaeus- Merzbacher Brain Sclerosis, Acute Infantile Pelizaeus-Merzbacher Brain Sclerosis, and Autosomal Dominant or Late Onset Pelizaeus-Merzbacher Brain
Sclerosis. It is not clear if the acute infantile and late onset forms of the disease represent the same genetic defect or if they will come to be recognized as separate
distinct disorders. It has an X-linked genetic transmission whereby boys are much more often affected than girls. The disease is one of a group of genetic disorders
called the leukodystrophies that affect growth of the myelin sheath, the fatty covering--which acts as an insulator--on nerve fibers in the brain. In this disease, a myelin
protein called proteolipid protein is abnormal. There are several forms of Pelizaeus-Merzbacher disease including classic, connatal, transitional and adult. Except for the
adult form of the disease, onset of Pelizaeus-Merzbacher disease is usually in early infancy. Early symptoms may include slow growth, nystagmus (rapid, involuntary,
rhythmic jerking of the eyes), and failure to develop normal control of head movement. In adult-onset cases, deteriorating speech may be an early sign. Other symptoms
may include tremor, various involuntary movements, grimacing, weakness, unsteady gait, and muscle contractures (shrinkage or shortening of a muscle). Over time,
legs and arms may become spastic, and mental functions may deteriorate. Some patients may have convulsions and skeletal deformation, resulting from abnormal
muscular stress on bones.
There is no cure for Pelizaeus-Merzbacher disease, nor is there a standard course of treatment. Treatment, which is symptomatic and supportive, may include medication
for seizures and movement disorders.
Magalini, S, et al (eds). Dictionary of Medical Syndromes 4th edition, J.B. Lippincott Co., Philadelphia, pp. 619-620 (1997)
Menkes, J. The Leukodystrophies The New England Journal of Medicine, 322:1; 54-55 (January 4, 1990)
Rowland, L (ed). Merritt's Textbook of Neurology 9th edition, Williams & Wilkins, Baltimore, pp. 599-600 (1995)
Thoene, J (ed). Physicians' Guide to Rare Diseases Dowden Publishing Co., Inc., Montvale, NJ, p. 420 (1992)
van der Knaap, M, and Valk, J. The Reflection of Histology in MR Imaging of Pelizaeus-Merzbacher Disease American Journal of Neuroradiology, 10:99-103
(January/February 1989)
Pemphigoid, Benign Mucosal 天皰瘡 : a rare skin disease characterized by blisters on the mucous membranes (the thin moist layer lining the body's cavities).
Mucous membranes of the mouth and the conjunctiva (the eyelids) are commonly affected areas.
Pemphigus 天皰瘡 : a group of rare autoimmune skin disorders characterized by the development of blisters in the outer layer of the skin (epidermis) and mucous
membranes (thin moist layers that line the body's internal surfaces). The location and type of blisters vary according to the type of Pemphigus. If left untreated
Pemphigus can be a serious illness.
Penta X syndrome : a chromosomal disorder that affects females. It is caused by the presence of extra X chromosomes. Major symptoms may include mental and
growth deficiencies, upward slanting eyes with excess skin over the inner corners of the eyes (epicanthal folds), and an unclosed blood vessel that connects the lung's
left artery to the heart's main artery (patent ductus arteriosus).
Pentalogy of Cantrell : a very rare disorder characterized by a combination of severe defects of the middle of the chest including the sternum, diaphragm, heart, and
abdominal wall. This defect can affect males or females and is apparent at birth or shortly after.
PEPCK Deficiency, Mitochondrial 粒腺體 PEPCK 缺乏症: an extremely rare disorder of carbohydrate metabolism inherited as an autosomal recessive trait.
A deficiency of the enzyme phosphoenolpyruvate carboxykinase, which is a key enzyme in the conversion of proteins and fat to glucose (gluconeogenesis), causes an
excess of acid in the circulating blood (acidemia). Characteristics of this disorder are low blood sugar (hypoglycemia), loss of muscle tone, an abnormal enlargement of
the liver and failure to gain weight and grow normally.
Perisylvian Syndrome, Congenital Bilateral (CBPS) : an extremely rare neurological disorder that is apparent at birth (congenital) or within the first months of
life. It is characterized by partial paralysis of muscles on both sides (diplegia) of the face, tongue, jaws, and throat (pseudobulbar palsy); difficulties in speaking
(dysarthria), chewing (mastication), and swallowing (dysphagia); and/or episodes of uncontrolled convulsions, muscle spasms, and/or other symptoms (epilepsy). In
most cases, mild to severe mental retardation is also present. The symptoms of this disorder are thought to be due to improper development of a portion of the brain
(cerebral cortex) during embryonic growth (neuronal dysmigration). Researchers believe that CBPS may be caused by an underlying genetic abnormality that is inherited
as an autosomal recessive genetic trait.
Perniosis 凍瘡 : an inflammatory disease of the skin of the arms and legs and is triggered by prolonged exposure to cold temperature. The disorder is characterized by
painful, itchy skin lesions on the lower legs, hands, toes, feet, ears and face. The lesions usually last for two to three weeks.
Pertussis 百日咳 : a highly contagious acute respiratory disease caused by the bacteria Bordetella pertussis. This disease has 3 stages: catarrhal, paroxysmal, and
convalescent. The symptoms of the catarrhal stage are mild and may go unnoticed. The paroxysmal stage of Pertussis is characterized by episodes of coughing with a
distinctive "whooping" sound when breathing in (inspiration). This characteristic cough gives the disease its common name, Whooping Cough. During the convalescent
stage, episodes of coughing are less frequent and symptoms improve. The incidence of Pertussis has diminished greatly with widespread use of the DPT vaccine
(Diphtheria Pertussis Tetanus), but in certain areas of the United States outbreaks have occurred periodically in recent years.
Peutz Jeghers Syndrome : a rare inherited disorder characterized by multiple benign nodular growths (hamartomas) on the mucous lining of the intestinal wall.
Affected individuals also have dark skin discolorations, especially around the lips and mucous membranes of the mouth. The association between heredity,
gastrointestinal polyposis, and mucocutaneous pigmentation in Peutz-Jeghers syndrome (PJS) was first recognised in 1921 by Peutz in a Dutch family. This original
family has now been followed-up for more than 78 years. We did mutation analysis in this family to test whether the recently identified LKB1 gene is indeed the PJS
gene in this family. Clinical features in this family included gastrointestinal polyposis, mucocutaneous pigmentation, nasal polyposis, and rectal extrusion of polyps.
Survival of affected family members was reduced by intestinal obstruction and by the development of malignant disease. A novel germline mutation in the LKB1 gene
was found to cosegregate with the disease phenotype in the original family. The mutant LKB1 allele carried a T insertion at codon 66 in exon 1 resulting in frameshift and
stop at codon 162 in exon 4. The morbidity and mortality in this family suggest that PJS is not a benign disease. An inactivating germline mutation in the LKB1 gene is
involved in the PJS phenotype in the original and oldest kindred known to be affected by PJS.
Westerman, Anne Marie; Entius, Mark M; de Baar, Ellen; Boor, Patrick P C; Koole, Rita; van Velthuysen, M Loes F; et. al.Peutz-Jeghers syndrome: 78-year follow-up
of the original family. Lancet 353: 1211-1215, 1999
Peyronie Disease : a rare connective tissue disorder characterized by the development of fibrous plaques in the soft tissue of the penis of adult males. Affected
individuals may experience pain, have cord-like lesions on the penis, and/or exhibit abnormal curvature of the penis when erect. In some cases, these conditions may
make it impossible for many affected individuals to have normal sexual intercourse unless treated. Symptoms may be chronic, or may spontaneously resolve in some
cases. The exact cause of Peyronie Disease is not known.
Pfeiffer Syndrome Type I : a very rare genetic disorder characterized by abnormalities of the head and facial (craniofacial) area, distinctive malformations of the fingers
and toes (digits), and/or additional physical abnormalities. This disorder, which is also known as Acrocephalosyndactyly Type V, is generally accepted to be the same
disorder as Noack Syndrome (Acrocephalopolysyndactyly Type I). The Acrocephalosyndactyly (ACS) disorders are a group of very rare genetic disorders characterized
by premature closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis), causing the top of the head to appear abnormally
pointed (acrocephaly), and webbing or fusion of certain fingers and/or toes (syndactyly). According to the medical literature, researchers have recognized three subtypes
of Pfeiffer Syndrome: namely, Pfeiffer Syndrome Types I, II, and III. Major findings that may be associated with all forms of the disorder include premature fusion of

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 certain cranial sutures (craniosynostosis), abnormally broad thumbs and great toes that may bend outward (varus deformity), and syndactyly of certain fingers and toes.
The range and severity of associated symptoms and findings may vary greatly from case to case. (For more information on Pfeiffer Syndrome Types II and III, please
see the Related Disorders section below.) In most infants with Type I, or Classic Type Pfeiffer Syndrome, craniosynostosis causes the head to appear short and
unusually pointed at the top (turribrachycephaly). Affected infants and children typically have craniofacial abnormalities including an unusually high, full forehead; a
flattened middle portion of the face (midface hypoplasia); a small nose with a flattened bridge; widely spaced eyes (ocular hypertelorism); an underdeveloped upper jaw
(hypoplastic maxilla), causing the lower jaw to appear unusually prominent (relative mandibular prognathism); and/or dental abnormalities. Individuals with Pfeiffer
Syndrome Type I also have digital abnormalities including the malformations mentioned above (i.e., abnormally broad thumbs and great toes that may bend outward
[varus deformity] and syndactyly). Intelligence is usually normal. In some cases, Pfeiffer Syndrome Type I may be due to new genetic changes (mutations) that occur
randomly, with no apparent cause (sporadic). In other cases, the disorder may be inherited as an autosomal dominant genetic trait.
Phenylketonuria (PKU) 苯酮尿症: an inborn error of metabolism that is detectable during the first days of life with appropriate blood testing (e.g., during routine
neonatal screening). PKU is characterized by absence or deficency of an enzyme (phenylalanine hydroxylase) that is responsible for processing the essential amino
acid phenylalanine. (Amino acids, the chemical building blocks of proteins, are essential for proper growth and development.) With normal enzymatic activity,
phenylalanine is converted to another amino acid (tyrosine), which is then eliminated from the body. However, when the phenylalanine hydroxylase enzyme is absent or
deficient, phenylalanine abnormally accumulates in the blood and is toxic to brain tissue. Symptoms associated with PKU are typically absent in newborns. In rare cases,
affected infants may be abnormally drowsy and listless (lethargic) and have difficulties feeding. In addition, infants with PKU tend to have unusually light eyes, skin, and
hair (light pigmentation) and may develop a rash that appears similar to eczema, an inflammatory skin condition that may be characterized by itching, redness, and
blistering in affected areas. Without treatment, most infants with PKU ( normal range : 2.0-6.0 mg/dl, young children < 7.9 mg/dl, elder children < 11.6 mg/dl )develop
mental retardation that is typically severe. Those with untreated PKU may also develop additional neurologic symptoms, such as episodes of uncontrolled electrical
activity in the brain (seizures), abnormally increased activity (hyperactivity), poor coordination and a clumsy manner of walking (gait), abnormal posturing, aggressive
behavior, or psychiatric disturbances. Additional symptoms and findings may include nausea, vomiting, and a musty or "mousy" body odor due to the presence of a
by-product of phenylalanine (phenylacetic acid) in the urine and sweat. To prevent mental retardation, treatment consists of a carefully controlled,
phenylalanine-restricted diet beginning during the first days or weeks of life. Most experts suggest that a phenylalanine-restricted diet should be lifelong. PKU is inherited
as an autosomal recessive trait. The disorder is caused by changes (mutations) of a gene that has been mapped to the long arm (q) q22-q24 of chromosome 12.
Pheochromocytoma : a rare type of tumor that arises in certain cells (chromaffin) of the sympathetic nervous system. The sympathetic nervous system controls certain
involuntary activities in the body (e.g., regulating the heart beat or breathing rate). Symptoms associated with Pheochromocytomas include high blood pressure
(hypertension), headaches, excessive sweating, and/or heart palpitations. In most cases, Pheochromocytomas occur randomly, for unknown reasons (sporadically). In
approximately 5 percent of cases, Pheochromocytomas may be inherited as an autosomal dominant genetic trait.
Phocomelia Syndrome : a birth defect that may occur sporadically or be genetically transmitted in some cases. In other cases it may be caused by toxins (such as
certain drugs) taken by a pregnant woman. Major symptoms may include growth and mental deficiencies, defects in the eyes, ears, and nose, and characteristic
deficient limb development affecting the arms and possibly the legs.
Phosphoglycerate Kinase Deficiency 磷酸甘油激脢缺乏症 : an extremely rare inherited metabolic disorder characterized by deficiency of the enzyme
phosphoglycerate kinase. Symptoms and findings associated with the disorder may include low levels of circulating red blood cells (hemolytic anemia); varying degrees
of mental retardation; rapidly changing emotions (emotional lability); an impaired ability to communicate through and/or to comprehend speech or writing (aphasia);
muscle weakness after exercise; and/or paralysis of one side of the body (hemiplegia). In most cases, Phosphoglycerate Kinase Deficiency is inherited as an X-linked
genetic trait. In such cases, the disorder is fully expressed in males only; however, some females who carry one copy of the disease gene (heterozygotes) may have
hemolytic anemia.
Pica 異食癖 : an eating disorder that is characterized by the repeated eating of non-nutritive substances over a period of one month or longer. Patients may eat
non-edible objects such as paint, plaster, dirt, ice, or laundry starch. Pica generally affects small children, pregnant women, and people whose cultural environment is
most compatible with the eating of non-food items.
Pick's Disease : a very rare progressive form of dementia that affects certain areas of the brain (i.e., temporal and frontal lobes). Symptoms of this disorder may include
loss of intellectual abilities and changes in behavior (e.g., lack of inhibition) and personality. Affected individuals may exhibit confusion and a general lack of concern
about their surroundings. Other symptoms may include unusual speech patterns and the repetition of another's words (echolalia). In the majority of cases, the exact
cause of Pick's Disease is not known; however, about 10 to 20 percent of cases are thought to be inherited as an autosomal dominant genetic trait. Although the
disease usually affects individuals between the ages of 40 and 60, the age of onset may range from 20 to 80.
There is no cure or specific treatment for Pick's disease. Its progression cannot be slowed. However, some of the symptoms of the disease may be treated effectively.
Pierre Robin Syndrome : characterized by a combination of three features, possibly due to the underdevelopment of the lower jaw. The lower jaw is abnormally small
(micrognathia), the tongue is displaced downwards (glossoptosis), and there is an abnormal opening in the roof of the mouth (cleft soft palate).
Pinta 螺旋體引起慢性變色性皮膚炎 : an infectious disease characterized by skin rashes and discoloration. It is caused by the spiral-shaped bacterium
Treponema carateum, which is transmitted by direct, nonsexual contact. This disease is most common in tropical areas such as the lowlands of South and Central
America. Pinta is rare in the United States.
Pityriasis Rubra Pilaris : a mildly itchy chronic skin disorder that is possibly caused by an inherited metabolic defect. Initially, the disorder is characterized by elevated
spots (papules) on the skin. These spots grow and become connected, producing red plaques over large areas.
Pneumonia, Eosinophilic : a disorder characterized by an inflammation of the lungs and an abnormal increase in the number of certain white blood cells (eosinophils)
in the lymph nodes, lungs and blood. This disorder is usually associated with allergic conditions and various parasitic infections.
Pneumonia, Interstitial : involving the spaces and tissue (interstices) of the lungs, is a type of primary pneumonia. It involves an abnormal increase in the interstitial
tissue and a decrease and hardening (induration) of other lung tissue. Major symptoms may include shortness of breath on exertion, cough (which may or may not be
present) and loss of appetite.
POEMS Syndrome : an extremely rare multisystem disorder. POEMS is an acronym that stands for (P)olyneuropathy, disease affecting many nerves; (O)rganomegaly,
abnormal enlargement of an organ; (E)ndocrinoapthy, disease affecting certain hormone-producing glands that help to regulate the rate of growth, sexual development,
and certain metabolic functions (endocrine system); (M)onoclonal gammopathy or M proteins; and (S)kin defects. Common symptoms include progressive weakness of
the nerves in the arms and legs, an abnormally enlarged liver and/or spleen (hepatosplenomegaly), abnormally darkening of the skin (hyperpigmentation) and excessive
hair growth (hypertrichosis). Endocrine abnormalities such as failure of the ovaries and testes (gonads) to function properly (primary gonadal failure) and diabetes
mellitus type I may be present. Specific endocrine abnormalities associated with POEMS syndrome vary from case to case. POEMS syndrome is associated with a
group of disorders known as monoclonal gammopathies or plasma cell dyscrasias. These disorders are characterized by the uncontrolled growth of a single clone
(monoclonal) of plasma cells, which results in the abnormal accumulation of M-proteins (also known as immunoglobulin M or IgM) in the blood. M-proteins are supposed
to fight foreign substances in the body such as viruses and bacteria, but researchers suspect that they play a role in the development of POEMS syndrome. However,
the specific role M-proteins play and the exact cause of POEMS syndrome are unknown.
Poland Syndrome : an extremely rare developmental disorder that is present at birth (congenital). It is characterized by absence (agenesis) or underdevelopment
(hypoplasia) of certain muscles of the chest (e.g., pectoralis major, pectoralis minor, and/or other nearby muscles), and abnormally short, webbed fingers
(symbrachydactyly). Additional findings may include underdevelopment or absence of one nipple (including the darkened area around the nipple [areola]) and/or patchy
hair growth under the arm (axilla). In females, one breast may also be underdeveloped (hypoplastic) or absent (amastia). In some cases, affected individuals may also
exhibit underdeveloped upper ribs and/or an abnormally short arm with underdeveloped forearm bones (i.e., ulna and radius) on the affected side (ipsilateral). In most
cases, physical abnormalities are confined to one side of the body (unilateral). In approximately 75 percent of the cases, the right side of the body is affected. The range
and severity of symptoms may vary from case to case. The exact cause of Poland Syndrome is not known.
Polyarteritis Nodosa : a rare multisystem disorder that usually becomes apparent between the ages of 40 to 50 years, is characterized by widespread inflammation,
weakening, and degeneration of small- and medium-sized arteries. Blood vessels in any organ or organ system may be affected including arteries supplying the kidneys,
heart, intestine, nervous system, and/or skeletal muscles. Damage to affected arteries may result in abnormally increased blood pressure (hypertension), "ballooning"

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 (aneurysm) of an arterial wall, the formation of blood clots (thrombosis), obstruction of blood supply to certain tissues, and/or tissue damage and loss (necrosis) in
certain affected areas. In many cases, affected individuals experience weight loss, fever, a general feeling of ill health (malaise), fatigue, weakness, headache, muscle
aches (myalgias), and/or abdominal pain. Other symptoms and findings are often present and depend upon which areas of the body are affected. Although the exact
cause of Polyarteritis Nodosa is not known, many researchers suspect that the disorder is due to disturbances of the body's immune system.
Polychondritis 多發性軟骨炎: a rare degenerative disease characterized by recurrent inflammation of the cartilage in the body. Deterioration of the cartilage may
affect any site of the body where cartilage is present. Ears, larynx and trachea may become "floppy," and the bridge of the nose can collapse into a "saddlenose" shape.
The aortic heart valve may also be affected.
Polycystic Kidney Diseases : are inherited renal disorders characterized by the presence of multiple cysts in both kidneys (bilateral renal cysts). Normal kidney tissue
is replaced by fluid-filled sacs or cysts of varying sizes that become larger as the disease progresses. Symptoms of Polycystic Kidney Diseases include abnormally high
blood pressure (hypertension) and the progressive loss of kidney function, leading to end-stage renal failure. Other symptoms may include enlarged kidneys, vomiting,
and/or failure to thrive. Most infants with Autosomal Recessive Polycystic Kidney Disease also have unusual facial features (Potter's face). There are two major
subdivisions of Polycystic Kidney Diseases. Autosomal Recessive Polycystic Kidney Disease (ARPKD) includes four subdivisions: Perinatal, Neonatal, Infantile, and
Juvenile. The different forms of the disease are based on the age at onset, which frequently correlates with the rate of progression and severity of the symptoms. The
second major subdivision is Autosomal Dominant Polycystic Kidney Disease (ADPKD). This form of the disease affects adults, and the symptoms typically progress
more slowly than in Autosomal Recessive Polycystic Kidney Disease.
Polycystic Liver Disease : an inherited disorder characterized by many cysts in the liver. Abdominal discomfort from swelling of the liver may occur; however, most
affected individuals do not have any symptoms. In some cases, Polycystic Liver Disease appears to occur randomly, with no apparent cause (sporadically). Other cases
are thought to be inherited as an autosomal dominant genetic trait.
Polycythemia Vera : a rare chronic myeloproliferative disorder characterized by overproduction of red blood cells and elements of the bone marrow involved in the
formation of red blood cells (hematopoietic elements). In most cases, affected individuals may experience headaches, weakness, dizziness (vertigo), and/or a ringing
noise in the ear (tinnitus). In some cases, individuals with polycythemia vera experience itching (pruritis), especially after a hot bath. Affected individuals often have an
abnormally enlarged spleen (splenomegaly) and/or liver (hepatomegaly). In some cases, affected individuals may have associated conditions including high blood
pressure (hypertension), the formation of blood clots (thrombosis), rupturing of and loss of blood (hemorrhaging) from certain blood vessels, and/or Budd-Chiari
Syndrome, a rare disorder characterized by obstruction (occlusion) of veins of the liver (hepatic veins). The exact cause of polycythemia vera is not known.
Polyglucosan Body Disease, Adult: a rare progressive neurological disorder characterized by the accumulation of microscopic material (polyglucosan bodies),
predominantly in skeletal muscle nerve cells (motor neurons). The disorder typically affects both upper and lower motor neurons, resulting in nerve damage within the
brain and/or spinal cord (central nervous system). Symptoms usually begin during middle age or later and may include muscle weakness, loss of sensation, and/or
wasting of muscles (atrophy) in the arms and/or legs. Impaired bladder control (neurogenic bladder) and/or mental confusion (dementia) may also occur.
Polymyalgia Rheumatica 風濕性多肌痛 : a rare inflammatory disease characterized by muscle pain, stiffness, and other generalized systemic symptoms such
as fatigue, low-grade fever, and/or a general feeling of ill health (malaise). Polymyalgia Rheumatica can be a relatively benign condition that is extremely responsive to
treatment. In some rare cases, permanent muscle weakness, loss of muscle mass (atrophy), and disability may occur. The exact cause of Polymyalgia Rheumatica is
not known, although immunological factors and familial tendencies (genetic predisposition) have been mentioned in the medical literature. Polymyalgia Rheumatica and
Giant Cell Arteritis, a chronic inflammatory disease characterized by progressive inflammation of many arteries of the body, are known to be associated and have been
described in the medical literature as possible variants of the same disease process. The exact nature of the association is not fully understood.
Polymyositis 多肌炎 : a systemic connective tissue disorder characterized by inflammatory and degenerative changes in the muscles, leading to symmetric weakness
and some degree of muscle atrophy. The areas principally affected are the hip, shoulders, arms, pharynx and neck. The disease has a gradual onset and generally
begins in the second decade of life. Polymyositis rarely affects persons under the age of 18. The most common symptom is muscle weakness, usually affecting those
muscles that are closest to the trunk of the body (proximal). Eventually, patients have difficulty rising from a sitting position, climbing stairs, lifting objects, or reaching
overhead. In some cases, distal muscles (those not close to the trunk of the body) may also be affected later in the course of the disease. Trouble with swallowing
(dysphagia) may occur. Occasionally, the muscles ache and are tender to touch. Patients may also feel fatigue and discomfort and have weight loss or a low-grade fever.
Treatment for polymyositis generally consists of a steroid drug called prednisone. For patients in whom prednisone is not effective, immunosuppressants such as
azathioprine and methotrexate may be prescribed. Physical therapy is usually recommended to preserve muscle function and avoid muscle atrophy.
Dalakas, M. Current Treatment of Inflammatory Myopathies Current Opinion in Rheumatology, 6; 595-607 (1994)
Dalakas, M. Immunopathogenesis of Inflammatory Myopathies Annals of Neurology, 37:5; 74-86 (1995)
Dalakas, M. Polymyositis, Dermatomyositis, and Inclusion-Body Myositis The New England Journal of Medicine, 325:21; 1487-1498 (November 21, 1991)
Polyposis, Familial 家族性肉息病: a group of rare inherited disorders of the gastrointestinal system. Initially the disorder is characterized by benign growths
(adenomatous polyps) in the mucous lining of the gastrointestinal tract. If left untreated, affected individuals usually develop cancer of the colon and/or rectum.
Pompe Disease 龐培氏症( 肝醣貯積型第二型 ) : a glycogen storage disease. This hereditary metabolic disorder is caused by an inborn lack of the
enzyme alpha-1,4 glucosidase (lysosomal glucosidase; acid maltase). This enzyme deficiency causes excess amounts of glycogen to accumulate in the lysosomes of all
body tissues, due to an inability to break down the glycogen. The glycogen accumulates in the lysosomes, which swell and cause cell damage.
Popliteal Pterygium Syndrome 腿後翼狀胔肉: an extremely rare inherited disorder that is apparent at birth (congenital). It is characterized by webbed skin
(pterygium) on the backs of both legs (popliteal) and between the legs (intercrural), characteristic facial abnormalities, and malformations of the genitalia. Facial
abnormalities may include incomplete closure of the roof of mouth (cleft palate), a vertical groove in the upper lip (cleft lip), and/or depressions or "pits" near the center
(paramedian) of the lower lip. Other physical findings may include underdevelopment (hypoplasia) of the genitals and/or webbing or fusion of the fingers and/or toes
(syndactyly). The range and severity of the symptoms associated with Popliteal Pterygium Syndrome vary greatly from case to case. Popliteal Pterygium Syndrome is
believed to be inherited as an autosomal dominant genetic trait. .
Porencephaly : an extremely rare disorder of the central nervous system involving cysts or cavities in a cerebral hemisphere. The cysts or cavities are usually the
remnants of destructive lesions, but are sometimes the result of abnormal development. The disorder can occur before or after birth. Most infants show symptoms of the
disorder shortly after birth. Diagnosis is usually made before age 1. Signs may include delayed growth and development, spastic paresis (slight or incomplete paralysis),
hypotonia (low muscle tone), seizures (often infantile spasms), and macrocephaly (large head) or microcephaly (small head). Individuals with porencephaly may have
poor or absent speech development, epilepsy, hydrocephalus, spastic contractures (shrinkage or shortening of a muscle), and mental retardation.
Treatment may include physical therapy, medication for seizure disorders, and a shunt for hydrocephalus.
Bradley, W, et. al. (eds). Neurology in Clinical Practice: The Neurological Disorders. vol. II, 2nd edition, Butterworth-Heinemann, Boston, pp. 1480 (1996).
Berkow, R. (ed). The Merck Manual of Diagnosis and Therapy: Specialties. vol. II, 16th edition, Merck & Co., Inc., Rahway, NJ, p. 307 (1992).
Blackman, J, et. al. Large Postnatally Acquired Porencephalic Cysts: Unexpected Developmental Outcomes. Journal of Child Neurology, 6; 58-64 (January 1991).
Porphyria 蚍咯紫質沉著症: a group of at least seven metabolic disorders characterized by excess accumulation of the natural chemicals "porphyrins" or "porphyrin
precursors" in the body. The different types vary in their clinical presentation. Clinical findings associated with the disorders generally include skin (cutaneous) or nervous
system manifestations. Sometimes these symptoms are so ill-defined that proper diagnosis is delayed. The urine of some patients is a purple-red color or changes to
that color when exposed to light.
Porphyria Cutanea Tarda (PCT)遲發性皮性砒咯紫質沉著症 : the most common of the porphyrias. It results from a deficiency of the enzyme
uroporphyrinogen decarboxylase (URO-D). The disorder can be caused by either inherited or acquired factors. PCT is one of the "hepatic" porphyrias, and large
amounts of porphyrins can build up in the liver when the disease is active. When inherited, the enzyme deficiency is inherited as an autosomal dominant trait. In most
individuals with the inherited enzyme deficiency, the disease remains latent and may never be symptomatic. The porphyrias are a group of at least seven disorders. The
common feature in all porphyrias is the excess accumulation in the body of "porphyrins" or "porphyrin precursors." These are natural chemicals that normally do not
accumulate in the body. Precisely which one of these porphyrin chemicals builds up depends upon the type of porphyria that a patient has. Porphyrias can also be
classified into two groups: the "hepatic" and "erythropoietic" types. Porphyrins and related substances originate in excess amounts from the liver in the hepatic types,
and mostly from the bone marrow in the erythropoietic types. The porphyrias with skin manifestations are sometimes called "cutaneous porphyrias." The "acute
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 porphyrias" are characterized by sudden attacks of pain and other neurological manifestations. These "acute" symptoms can be both rapidly appearing and severe. An
individual may be considered in a "latent" condition if he or she has the characteristic enzyme deficiency but has never developed symptoms. There can be a wide
spectrum of severity between the "latent" and "active" cases of any particular type of porphyria. The symptoms and treatments of the different types of porphyrias are not
the same.
Porphyria, Acute Intermittent (AIP)急性間歇性砒咯紫質沉著症 : one of a group of hereditary hepatic Porphyrias. It is inherited as an autosomal
dominant trait. The deficient enzyme is porphobilinogen deaminase (PBG-D), also known as uroporphyrinogen I-synthase. This enzyme deficiency by itself is not
sufficient to produce symptoms of the disease. Other factors must also be present such as hormones, drugs and dietary changes that trigger the appearance of
symptoms. The Porphyrias are a group of at least seven disorders. The common feature in all porphyrias is the excess accumulation in the body of "porphyrins" or
"porphyrin precursors." These are natural chemicals that normally do not accumulate in the body. Precisely which one of these porphyrin chemicals builds up depends
upon the type of Porphyria that a patient has. Porphyrias can also be classified into two groups: the "hepatic" and "erythropoietic" types. In the hepatic types of Porphyria
porphyrins and related substances originate in excess amounts from the liver, and mostly from the bone marrow in the erythropoietic types. The Porphyrias with skin
manifestations are sometimes called "cutaneous Porphyrias." The "acute Porphyrias" are characterized by sudden attacks of pain and other neurological symptoms.
These "acute" symptoms can be both rapidly-appearing and severe. An individual may be considered in a "latent" condition if he or she has the characteristic enzyme
deficiency but has never developed symptoms. There can be a wide spectrum of severity between the "latent" and "active" cases of any particular type of Porphyria. The
symptoms and treatments of the different types of Porphyrias are not the same.
Porphyria, ALA-D ALA-D 砒咯紫質沉著症 : a recently described form of acute porphyria, is inherited as an autosomal recessive trait and seems to be
extremely rare. This form of porphyria is one of the "hepatic" porphyrias. The Porphyrias are a group of at least seven disorders. The common feature in all porphyrias is
the excess accumulation in the body of "porphyrins" or "porphyrin precursors." These are natural chemicals that normally do not accumulate in the body. Precisely which
one of these porphyrin chemicals builds up depends upon the type of porphyria that a patient has. Porphyrias can also be classified into two groups: the "hepatic" and
"erythropoietic" types. Porphyrins and related substances originate in excess amounts from the liver in the hepatic types, and mostly from the bone marrow in the
erythropoietic types. The porphyrias with skin manifestations are sometimes called "cutaneous porphyrias." The "acute porphyrias" are characterized by sudden attacks
of pain and other neurological manifestations. These acute symptoms can be both rapidly-appearing and severe. An individual may be considered in a "latent" condition
if he or she has the characteristic enzyme deficiency, but has never developed symptoms. There can be a wide spectrum of severity between the "latent" and "active"
cases of any particular type of this disorder. The symptoms and treatments of the different types of porphyrias are not the same.
Porphyria, Congenital Erythropoietic (CEP) 先天紅血球增生性砒咯紫質沉著症 : is extremely rare and is inherited through an autosomal
recessive trait. It is also known as Guenther Porphyria. The deficient enzyme is uroporphyrinogen III cosynthase. As is characteristic of the erythropoietic porphyrias,
symptoms usually begin during infancy. CEP is manifested by markedly increased levels of porphyrins in bone marrow, red blood cells, plasma, urine and feces.
Porphyrins are also deposited in the teeth and bones. The Porphyrias are a group of at least seven disorders. The common feature in all porphyrias is the excess
accumulation in the body of "porphyrins" or "porphyrin precursors." These are natural chemicals that normally do not accumulate in the body. Precisely which one of
these porphyrin chemicals builds up depends upon the type of porphyria that a patient has. Porphyrias can also be classified into two groups: the "hepatic" and
"erythropoietic" types. Porphyrins and related substances originate in excess amounts from the liver in the hepatic types, and mostly from the bone marrow in the
erythropoietic types. The porphyrias with skin manifestations are sometimes called "cutaneous porphyrias." The "acute porphyrias" are those characterized by sudden
attacks of pain and other neurological manifestations. These acute symptoms can be both rapidly-appearing and severe. An individual may be considered in a "latent"
condition if he or she has the characteristic enzyme deficiency, but has never developed symptoms. There can be a wide spectrum of severity between the "latent" and
"active" cases of any particular type of this disorder. The symptoms and treatments of the different types of porphyrias are not the same.
Porphyria, Hereditary Coproporphyria 遺傳性糞紫質砒咯增生沉著症 : an autosomal dominant form of hepatic porphyria that is very similar to
Acute Intermittent Porphyria, although it is usually a less severe disease. It is caused by an enzyme deficiency. Some patients develop skin photosensitivity, and must
avoid sunlight. The diagnosis is established by finding excess coproporphyrin in urine and stool (other types of porphyrins show little or no increase). Urinary ALA and
PBG are increased during acute attacks, but may become normal on recovery. The Porphyrias are a group of at least seven disorders. The common feature in all
porphyrias is the excess accumulation in the body of "porphyrins" or "porphyrin precursors." These are natural chemicals that normally do not accumulate in the body.
Precisely which one of these porphyrin chemicals builds up depends upon the type of porphyria that a patient has. Porphyrias can also be classified into two groups: the
"hepatic" and "erythropoietic" types. Porphyrins and related substances originate in excess amounts from the liver in the hepatic types, and mostly from the bone marrow
in the erythropoietic types. The porphyrias with skin manifestations are sometimes called "cutaneous porphyrias." The "acute porphyrias" are characterized by sudden
attacks of pain and other neurological manifestations. These acute symptoms can be both rapidly-appearing and severe. An individual may be considered in a "latent"
condition if he or she has the characteristic enzyme deficiency, but has never developed symptoms. There can be a wide spectrum of severity between the "latent" and
"active" cases of any particular type of this disorder. The symptoms and treatments of the different types of porphyrias are not the same.
Porphyria, Variegate (VP) 變異性砒咯紫質沉著症: a form of hepatic porphyria, is most common in the South African white population and is much less
frequent elsewhere. It is an autosomal dominant disorder and may produce acute attacks (as in acute intermittent porphyria) as well as skin photosensitivity. This form of
porphyria is also due to an enzyme deficiency. The diagnosis may be made by finding excess coproporphyrin in urine and both coproporphyrin and protoporphyrin in
feces. In patients with photosensitive skin changes alone, it is important to distinguish Varigate Porphyria or hereditary coproporphyria (HCP) from porphyria cutanea
tarda (PCT), because treatment by phlebotomy or low-dose chloroquine is not successful in VP and HCP. Acute attacks are managed and may be prevented as in AIP.
The Porphyrias are a group of at least seven disorders. The common feature in all porphyrias is the excess accumulation in the body of "porphyrins" or "porphyrin
precursors." These are natural chemicals that normally do not accumulate in the body. Precisely which one of these porphyrin chemicals builds up depends upon the
type of porphyria that a patient has. Porphyrias can also be classified into two groups: the "hepatic" and "erythropoietic" types. Porphyrins and related substances
originate in excess amounts from the liver in the hepatic types, and mostly from the bone marrow in the erythropoietic types. The porphyrias with skin manifestations are
sometimes called "cutaneous porphyrias." The "acute porphyrias" are characterized by sudden attacks of pain and other neurological manifestations. These acute
symptoms can be both rapidly-appearing and severe. An individual may be considered in a "latent" condition if he or she has the characteristic enzyme deficiency, but
has never developed symptoms. There can be a wide spectrum of severity between the "latent" and "active" cases of any particular type of this disorder. The symptoms
and treatments of the different types of porphyrias are not the same.
Post Polio Syndrome ( PPS ) : It is a condition that can strike polio survivors anywhere from 10 to 40 years after their recovery from polio. PPS is caused by the death
of individual nerve terminals in the motor units that remain after the initial polio attack. Symptoms include fatigue, slowly progressive muscle weakness, muscle and joint
pain, and muscular atrophy. The severity of PPS depends upon how seriously the survivors were affected by the first polio attack. Doctors estimate the incidence of PPS
at about 25 percent of the survivor population. The only way to be sure a person has PPS is through a neurological examination aided by other laboratory studies (for
example, magnetic resonance imaging (MRI), neuroimaging, electrophysiological studies, and muscle biopsies or spinal fluid analysis).
At present, no treatment can cure or prevent PPS. Some experimental drug treatments, including pyridostigmine and seligiline, show promise in treating symptoms of the
disorder. Doctors recommend that polio survivors follow standard healthful lifestyle practices: consuming a healthful diet, exercising in moderation, and visiting a doctor
regularly.
Posterior Uveitis : a vision disorder characterized by inflammation of the layer of blood vessels underlying the retina, and usually of the retina as well. Major symptoms
include blurred vision, distortion of the size or shape of objects (metamorphopsia), and floating black spots in the visual field. The resulting scars may impair clear
vision and cause dimness of vision (amblyopia). In many cases, this disorder occurs as a complication of Toxoplasmosis or other infections. In other cases, the cause
cannot be determined.
Prader Willi Syndrome : Prader Willi Syndrome was first officially described in 1956 by Dr. Guiod Fanconi in Zurich. a genetic disorder characterized by diminished
muscle tone (hypotonia), feeding difficulties, and failure to grow and gain weight (failure to thrive) during infancy; short stature; genital abnormalities; and mental
retardation. In addition, beginning at approximately age six months to six years, affected individuals may develop excessive body weight (obesity), especially in the lower
regions of the body (e.g., lower abdomen, thighs, buttocks). Progressive obesity results from lack of physical activity and excessive intake of food, which may be
associated with no feeling of satisfaction (satiety) after completing a meal, an obsession with eating, unusual food rituals, and binge-type eating habits. Individuals with
Prader-Willi syndrome may also have a characteristic facial appearance due to certain features, including almond-shaped eyes, a thin upper lip, and full cheeks.
Additional abnormalities may include crossing of the eyes (strabismus); unusually small hands and feet; sideways curvature of the spine (scoliosis); or mild, moderate, or
severe mental retardation. Children with the disorder may also tend to have an unusual, nasal voice; difficulties articulating speech; and outbursts of anger and other
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 behavioral abnormalities. Without appropriate treatment, individuals with severe progressive obesity may have an increased risk of cardiac insufficiency; a condition in
which there is insufficient secretion of the hormone insulin (diabetes mellitus); or other serious conditions that may lead to potentially life-threatening complications. In
most affected individuals, Prader-Willi syndrome appears to occur spontaneously (sporadically) for unknown reasons. However, some familial cases have been reported.
Sporadic and familial cases are thought to be caused by deletion or disruption of certain adjacent genes on the long arm (q) of chromosome 15 (15q11-q13).
FDA recently approved recombinant human growth hormone in the treatment of Prader-Willi syndrome
Couper RTL, Couper JJ. Prader Willi Syndrome. Laancet 356: 673-675, 2000.
Precocious puberty 早熟發育 : an abnormally early onset of puberty. A sequence of events occurs during which a child develops into a young adult beginning at
an unexpectedly early age. Glands that secrete growth and sex hormones begin to function abnormally early in life resulting in this condition. The exact cause of
Precocious Puberty is not known.
Primary Lateral Sclerosis : a rare neurological disease affecting the central motor neurons. The disorder causes progressive muscle weakness in the facial area,
hands, arms, legs and feet; spasticity; and hyperactive deep-tendon reflexes of the muscles in these areas.
Proctitis 直腸炎 : a chronic inflammatory disease arising in the rectum and characterized by bloody diarrhea. There are two types of Proctitis, Ulcerative and
Gonnoreal, which are differentiated by the means in which they are contracted. Gonnoreal Proctitis is transmitted through sexual contact.
Progressive multifocal leukoencephalopathy (PML) : an infrequent disorder of the nervous system that primarily affects individuals with suppressed immune
systems (including, allograft recipients such as kidney transplant patients; patients with cancers such as leukemia or lymphoma; and nearly 10% of patients with acquired
immune deficiency syndrome (AIDS). The disorder, which is caused by a common human polyomavirus, JC virus, is characterized by demyelination or destruction of the
myelin sheath that covers nerve cells. The myelin sheath is the fatty covering -- which acts as an insulator -- on nerve fibers in the brain. Symptoms of PML include mental
deterioration, vision loss, speech disturbances, ataxia (inability to coordinate movements), paralysis, and, ultimately, coma reflecting the multifocal distribution of brain
lesions. In rare cases, seizures may occur.
There is no cure for PML, nor is there currently an effective treatment for the disorder. Treatment is symptomatic and supportive.
Portegies, P. Response to Cytarabine in Progressive Multifocal Leukoencephalopathy in AIDS. The Lancet, 337; 680-681 (March 16, 1991).
Hall, CD, et al. Failure of Cytosine Arabinoside Therapy of HIV-1 Associated Progressive Multifocal Leukoencephalopathy. New England Journal of Medicine, 338;
1345-1351 (1998).
Koralnik, I, et al. JC Virus DNA Load in Patients With and Without PML. Neurology; 52: 353-358 (1999).
Berger, JR, and Major, EO The Pathogenesis and Clinical Course of Progressive Multifocal Leukoencephalopathy. Seminars in Neurology, Berger, JR, and Pascuzzi,
RM, eds, 19 (2); 193-200 (1999).
Yiannoutsas, C, et al. Relation of JC Virus DNA in the Cerebralspinal Fluid to Survival in AIDS Patients With Biopsy Proven Progressive Multifocal
Leukoencephalopathy. Annals of Neurology, 45; 816-845 (1999).
Power, C, et al. Non-AIDS and AIDS Related Progressive Multifocal Leukoencephalopathy: Association With Distinct p53 Polymorphisms. Neurology, 54; 743-746
(2000).
Progressive Osseous Heteroplasia (POH) : an extremely rare disorder characterized by abnormal development of bone in areas of the body where bone is not
normally present (heterotopic ossification). The disorder first appears as areas of patchy bone formation (ossification) on the skin during infancy; heterotopic ossification
progresses to involve superficial and deep connective tissues, areas of fat beneath the skin (subcutaneous fat), muscles, tendons, ligaments, and the bands of fibrous
tissues that support muscle (fascia). This abnormal formation of bone may restrict the movement of affected joints and/or hinder the growth of affected limbs. The course
of the disease is unpredictable; some areas of the body may become severely affected while others may remain unaffected. The exact cause of Progressive Osseous
Heteroplasia is not known.
Progressive Supranuclear Palsy (PSP) : a rare brain disorder that causes serious and permanent problems with control of gait and balance. The most obvious
sign of the disease is an inability to aim the eyes properly, which occurs because of lesions in the area of the brain that coordinates eye movements. Some patients
describe this effect as a blurring. PSP patients often show alterations of mood and behavior, including depression and apathy as well as progressive mild dementia. It
must be emphasized that the pattern of signs and symptoms can be quite different from person to person. The symptoms of PSP are caused by a gradual deterioration
of brain cells in a few tiny but important places at the base of the brain, in the region called the brainstem. PSP is often misdiagnosed because some of its symptoms are
very much like those of Parkinson's disease, Alzheimer's disease, and more rare neurodegenerative disorders, such as Creutzfeldt-Jakob disease. The key to
establishing the diagnosis of PSP is the identification of early gait instability and difficulty moving the eyes, the hallmark of the disease, as well as ruling out other similar
disorders, some of which are treatable. Although PSP gets progressively worse, no one dies from PSP itself.
There is currently no effective treatment for PSP, although scientists are searching for better ways to manage the disease. In some patients the slowness, stiffness, and
balance problems of PSP may respond to antiparkinsonian agents such as levodopa, or levodopa combined with anticholinergic agents, but the effect is usually
temporary. The speech, vision, and swallowing difficulties usually do not respond to any drug treatment.. Another group of drugs that has been of some modest
success in PSP are antidepressant medications. The most commonly used of these drugs are Prozac, Elavil, and Tofranil. The anti-PSP benefit of these drugs seems
not to be related to their ability to relieve depression. Non-drug treatment for PSP can take many forms. Patients frequently use weighted walking aids because of their
tendency to fall backward. Bifocals or special glasses called prisms are sometimes prescribed for PSP patients to remedy the difficulty of looking down. Formal physical
therapy is of no proven benefit in PSP, but exercises can be done to keep the joints limber. A surgical procedure, a gastrostomy, may be necessary when there are
swallowing disturbances. This surgery involves the placement of a tube through the skin of the abdomen into the stomach (intestine) for feeding purposes.
Prostatitis : a common infection of the prostate gland, the gland near the penis that is situated at the base of the male urethra. The prostate secretes an alkaline fluid that is
the major ingredient of ejaculatory fluid. Prostatitis is classified into four subcategories: acute bacterial, chronic bacterial, nonbacterial and prostatodynia.
Proteus Syndrome : a very rare hereditary disorder characterized by multiple lesions of the lymph vessels (lipolymphohemangiomas), overgrowth of one side of the body
(hemihypertrophy), an abnormally large head (macrocephaly), partial gigantism of the feet, and abnormal coffee-colored (cafe-au-lait) spots on the skin.
Prune Belly Syndrome : also known as Eagle-Barrett Syndrome, is a rare disorder characterized by partial or complete absence of the stomach (abdominal) muscles,
failure of both testes to descend into the scrotum (bilateral cryptorchidism), and/or urinary tract malformations, such as abnormal widening (dilation) of the tubes that
bring urine to the bladder (ureters), accumulation of urine in the ureters (hydroureter) and the kidneys (hydronephrosis), and/or backflow of urine from the bladder into
the ureters (vesicoureteral reflux). Complications associated with Prune-Belly Syndrome may include underdevelopment of the lungs (pulmonary hypoplasia) and/or
chronic renal failure. The exact cause of Prune-Belly Syndrome is not known.
Pseudo Hurler Polydystrophy 假性賀勒氏多重失養症( 黏脂質貯積症第三型 ) : The Mucolipidoses are a family of hereditary disorders in
which enzyme deficiencies cause both complex carbohydrates (mucopolysaccharides) and certain fatty substances (mucolipids) to accumulate in body tissues without
excess mucopolysaccharides in the urine. Pseudo-Hurler Polydystrophy (Mucolipidosis III) is a rare inherited metabolic disorder characterized by childhood onset,
painless joint stiffness, decreased mobility, short stature, some coarseness of the facial features, mild mental retardation, evidence of multiple defective bone formations
(dysostosis multiplex), and aortic valve disease. Pseudo-Hurler Polydystrophy is, in general, a milder form of I-cell disease (ML II), a rare inherited metabolic disorder
characterized by multiple abnormalities of the skull and face, growth delays, and/or mental retardation.
Pseudocholinesterase Deficiency : a rare genetic disorder. Individuals with this disorder have a deficiency or absence of the plasma enzyme pseudocholinesterase,
which can cause respiratory difficulty during surgery if the muscle-relaxing drug succinylcholine is used.
Pseudohypoparathyroidism : a hereditary disorder characterized by an inadequate response to the parathyroid hormone, although the hormone is present in normal
amounts. This inadequate response affects bone growth in individuals with Pseudohypoparathyroidism. Affected individuals may also experience headaches, unusual
sensations, weakness, easy fatigue, lack of energy, blurred vision, and/or abnormal sensitivity (hypersensitivity) to light. Additional symptoms and findings may include
stiffness or cramps in the arms and/or legs, palpitations, and/or abdominal pain. In addition, individuals with Pseudohypoparathyroidism may have an abnormally round
face, thick short stature, unusually short fourth fingers, and mental retardation. Hormonal and calcium replacement therapy is often helpful, but the lack of growth may
persist.
Pseudomyxoma Peritonei 腹腔膠假黏液瘤 : a rare malignant growth characterized by the progressive accumulation of mucus-secreting (mucinous) tumor
cells within the abdomen and pelvis. The disorder develops after a small growth (polyp) located within the appendix bursts through the wall of the appendix, and spreads

83
 mucus-producing tumor cells throughout the surrounding surfaces (e.g., the membrane that lines the abdominal cavity [peritoneum]). As mucinous tumor cells
accumulate, the abdominal area becomes swollen and digestive (gastrointestinal) function becomes impaired. Pseudomyxoma Peritonei develops at a variable rate, but
may grow at a slower rate (indolent) than other malignancies within the abdomen.
Pseudotumor Cerebri : also called benign intracranial hypertension, literally means "false brain tumor.". A condition characterized by increased pressure
inside the skull (intracranial pressure), headache, nausea, vomiting, pulsating intracranial noises, closely mimic symptoms of brain tumors, possibly because of the
abnormal buildup of pressure within the brain, and swelling of the optic disk (papilledema), the portion of the optic nerve that enters the eye and joins the nerve-rich
membrane lining the eye (retina). (The optic nerves are the pair of nerves [second cranial nerves] that transmit impulses from the retinas to the brain.) In some cases,
papilledema may cause progressive visual loss and/or impairment of one of the cranial nerve pairs (sixth cranial nerves [nervus abducens]) arising from the brain
(cranial nerve palsy). The sixth cranial nerves control the muscles (lateral rectus muscles) that turn the eyes outward. Although the symptoms and findings associated
with Pseudotumor cerebri are similar to those that may occur due to certain brain tumors, no tumor is involved in individuals with Pseudotumor cerebri. Pseudotumor
cerebri most commonly occurs in young, obese females. In most cases, the exact cause of Pseudotumor cerebri is unknown. However, in some cases, the condition
appears to occur in association with pregnancy, use of sex hormones, certain parathyroid or adrenal gland disorders, or other underlying disorders, conditions, or other
factors.
Treatment for pseudotumor cerebri is generally symptomatic. Pressure may be controlled by removing excess fluid with repeated spinal taps or by shunting. Steroids
may be prescribed to reduce swelling of brain tissue. Drugs to reduce cerebrospinal fluid production or hyperosmotic drugs may be used to reduce fluid buildup.
Baker, R, et al. Idiopathic Intracranial Hypertension (Pseudotumor Cerebri) in Pediatric Patients. Pediatric Neurology, 5:1; 5-11 (1989).
Berman, E, and Wirtschafter, J. Improvement of Optic Nerve Head Appearance After Surgery for Pseudotumor Cerebri. Journal of the American Medical Association,
267:8; 1130 (February 26, 1992).
Guiseffi, V, et al. Symptoms and Disease Associations in Idiopathic Intracranial Hypertension (Pseudotumor Cerebri): A Case-Control Study. Neurology, 41; 239-244
(February 1991).
Lepore, F. Unilateral and Highly Asymmetric Papilledema in Pseudotumor Cerebri. Neurology, 42; 676-678 (March 1992).
Susman, J. Benign Intracranial Hypertension. The Journal of Family Practice, 30:3; 290-292 (1990).
Waldron, B. A Phantom in the Brain. Discover, pp. 32-33 (August 1991).
Wall, M. Idiopathic Intracranial Hypertension. Neurologic Clinics, 9:1; 73-95 (February 1991).
Pseudoxanthoma Elasticum (PXE) 彈性纖維假黃瘤 : a rare inherited connective tissue disease that affects the elastic tissues of the body. Abnormal
accumulations of calcium (calcifications) occur within the elastic fibers of the skin, eyes, and cardiovascular system (i.e., heart and blood vessels) in individuals with
Pseudoxanthoma Elasticum. Small, raised yellowish bumps (papules) appear on certain areas of the body. After many years, affected skin looses elasticity, and when
stretched does not spring back. After the skin symptoms appear eye abnormalities develop, eventually leading to diminished vision. Cardiovascular abnormalities may
include calcification of the walls of certain arteries (arteriosclerosis), which leads to narrowing or blockage (occlusion) preventing proper blood flow to certain areas of the
body. In addition, arteriosclerosis may lead to abnormally high blood pressure (hypertension). The range and severity of PXE symptoms vary greatly from case to case,
with some people having milder symptoms than others. The classic form of Pseudoxanthoma Elasticum is inherited as an autosomal recessive genetic trait, but it can
also be inherited through autosomal dominant genes.
Psittacosis 鸚鵡病( 濾過性病毒) : a common infectious disorder found in birds that is transmissible to humans. It rarely occurs in humans but when it does it can
spread and become epidemic. In humans it can have very serious and complicated effects. The most prominent symptom is usually pneumonia with associated
breathing problems. Other major symptoms may include chills, fever, headache, nausea, vomiting, and muscle pain in the neck and back. These symptoms can mimic
many other diseases. A definite diagnosis is necessary for appropriate treatment to begin.
Psoriasis 牛皮癬 : a common chronic and recurrent skin disorder characterized by dry, well-circumscribed silvery gray scaling spots (papules) or plaques that usually
appear on the scalp, elbows, or knees. Although the exact cause of Psoriasis is not known, a family history of the disorder is common. In such cases, it is thought that
the disorder is inherited as an autosomal dominant genetic trait.
Pterygium Syndrome, Multiple : a very rare disorder that may occur for no apparent reason (sporadically) or be inherited as an autosomal recessive or autosomal
dominant genetic trait. This disorder is characterized by multiple joints in a fixed position (contractures), permanently bent fingers (camptodactyly), webbing of the skin,
short stature, vertebral abnormalities, drooping eyelids, and/or eyes that slant downward. An abnormally long groove in the middle of the upper lip, a small jaw, cleft
palate, low-set ears, a downturned mouth and fusion of vertebrae in the neck may also be found in patients with Multiple Pterygium Syndrome.
Pulmonary Alveolar Proteinosis : a rare lung disorder characterized by the filling of the air sacs of the lungs (alveoli) with grainy material consisting mostly of protein
and fat. Breathing becomes progressively difficult. The disorder occurs in different forms, ranging from mild to severe.
Pulmonary Hypertension, Primary : a very rare and progressive vascular disease. It is characterized by excessively high pulmonary artery pressure, and multiple
lesions that affect the small size arteries (arterioles) that lead to the capillaries of the lungs. These lesions are widespread in the lung. Eventually, there is a reduction in
the amount of blood able to be forced out by the right ventricle of the heart.
Pulmonary Hypertension, Secondary : a disorder of the blood vessels in the lungs. It usually is the result of other lung diseases or related diseases in other organs.
The disorder is characterized by breathing difficulties, especially after exertion.
Pure Red Cell Aplasia, Acquired : a rare bone marrow disorder characterized by an isolated decline of red blood cells (erythrocytes) produced by the bone marrow.
Affected individuals may experience fatigue, lethargy, and/or abnormal paleness of the skin (pallor). Acquired Pure Red Cell Aplasia may occur for unknown reasons
(idiopathic) or as a primary autoimmune disorder. It is also believed that Acquired Pure Red Cell Aplasia may occur secondary to a tumor of the thymus gland (thyoma),
viral infections, or certain drugs.
Purpura, Henoch Schonlein 紫斑症 : a rare inflammatory disease of the small blood vessels (capillaries) and is usually a self-limited disease. It is the most
common form of childhood vascular inflammation (vasculitis) and results in inflammatory changes in small blood vessels. The symptoms of Henoch-Schonlein Purpura
usually begin suddenly and may include headache, fever, loss of appetite, cramping abdominal pain, and joint pain. Red or purple spots typically appear on the skin
(petechial purpura). Inflammatory changes associated with Henoch-Schonlein Purpura can also develop in the joints, kidneys, digestive system, and, in rare cases, the
brain and spinal cord (central nervous system). In one form of the disorder, termed Schonlein's Purpura, the skin and joints are affected but the gastrointestinal tract is
not. In another form, known as Henoch's Purpura, affected individuals have purpura spots on the skin and acute abdominal problems. People with Henoch's Purpura are
not affected by joint disease. The exact cause of Schonlein-Henoch Purpura is not fully understood, although research suggests that it may be an autoimmune disease
or, in some rare cases, an extreme allergic reaction to certain offending substances (e.g., foods or drugs).
Purpura, Idiopathic Thrombocytopenic (ITP) : characterized by an abnormal decrease of a certain type of blood cell, called platelets (thrombocytopenia) without
a readily apparent cause or underlying disease. The disorder is characterized by abnormal bleeding into the skin. Bleeding from mucous membranes also occurs, and
may subsequently result in anemia.
Purpura, Thrombotic Thrombocytopenic (TTP) : a rare, serious blood disease. Major symptoms may include a severe decrease in the number of blood
platelets (thrombocytopenia), abnormal destruction of red blood cells (hemolytic anemia), and disturbances in the nervous system. Kidney dysfunction and fever are also
common.
Pyknodysostosis : a rare disorder that is inherited as an autosomal recessive genetic trait. This disorder is characterized by short stature; a large skull with a protruding
forehead and bulge on the back of the skull; unusually broad hands and feet with abnormally short, brittle nails; a bluish discoloration of the whites of the eyes (sclera);
an unusually small face; a receding chin; abnormalities of the teeth; and fragile bones that may fracture easily.
Pyoderma Gangrenosum 壞疽性化膿皮膚病 : a rare skin disorder of unknown origin. Major symptoms include small pustules that develop into large ulcers at
various sites on the body. It may or may not be associated with other illnesses.
Pyruvate Carboxylase Deficiency 丙酮酸羧化脢缺乏症: a rare genetic metabolic disorder that is present at birth. It is classified as a lactic acidemia in
which the conversion of pyruvate to oxaloacetate is blocked, impairing gluconeogenesis and resulting in an overabundance of lactic acid in the blood. Major symptoms
may include delayed development, muscle weakness (hypotonia), impaired ability to control voluntary movements (ataxia), seizures, and vomiting.

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Pyruvate Dehydrogenase Deficiency 丙酮酸脫氫脢缺乏症: a rare disorder of carbohydrate metabolism inherited as an X-linked recessive genetic trait.
Symptoms are caused by a deficiency of the enzyme pyruvate dehydrogenase resulting in persistent or recurrent metabolic acidosis (acidemia). The disorder is
manifested by mental retardation and other neurological symptoms.
Pyruvate Kinase Deficiency 丙酮酸激脢缺乏症: a hereditary blood disorder characterized by a deficiency of the enzyme pyruvate kinase. Physical findings
associated with the disorder may include reduced levels of oxygen-carrying hemoglobulin in the blood due to premature destruction of red blood cells (hemolytic anemia);
abnormally increased levels of bilirubin in the blood (hyperbilirubinemia); abnormal enlargement of the spleen (splenomegaly); and/or other abnormalities. Pyruvate
Kinase Deficiency is inherited as an autosomal recessive genetic trait.

Q
Q fever : an infectious disease that is caused by contact with animals that have the parasitic Rickettsia bacteria, Coxiella burnetii. Major symptoms may include headache,
fever, chills, muscle aches, and a general feeling of ill health (malaise).

R
Rabies 狂犬病 : an infectious disease that can affect all species of warmblooded animals, including man. This disorder is transmitted by the saliva of an infected animal
and is caused by a virus (Neurotropic lyssavirus) that affects the salivary glands and the central nervous system. The symptoms may lead to serious complications if the
virus is not treated immediately.
Radiation Syndromes : describe the harmful effects--acute, delayed, or chronic--produced by exposure to ionizing radiations. Tissues vary in response to immediate
radiation injury according to the following descending order of sensitivity: (1) lymph cells (2) reproductive organs (3) proliferating cells of the bone marrow (4) epithelial
cells of the bowel (5) top layer (epidermis) of the skin (6) liver cells (7) epithelium of the little lung sacs (alveoli) and bile passages (8) kidney epithelial cells (9)
endothelial cells of the membranes around the lungs, lining the chest cavity (pleura) and the abdominal cavity (peritoneum) (10) nerve cells (11) bone cells (12) muscle
and connective tissue. Generally, the more rapid the turnover of the cell, the greater the radiation sensitivity.
Ramsay Hunt syndrome type II ( dyssynergia cerebellaris myoclonica ) : refers to a collection of rare, degenerative, neurological disorders
characterized by epilepsy, cognitive impairment, myoclonus, and progressive ataxia. Symptoms include seizures, tremor, and reduced muscle coordination. Onset of the
disorder generally occurs in early adulthood. Tremor may begin in one extremity and later spread to involve the entire voluntary muscular system. Arms are usually more
affected than legs. Some of the cases are due to mitochondrial abnormalities.
Treatment of Ramsay Hunt type II is symptomatic. Myoclonus and seizures may be treated with the drug valproate.
Bradley, W, et al (eds). Neurology in Clinical Practice: The Neurological Disorders. vol. II, 2nd edition, Butterworth-Heinemann, Boston, p. 1786 (1996).
Rowland, L (ed). Merritt's Textbook of Neurology. 10th edition, Lippincott Williams & Wilkins, Philadelphia, p. 646 (2000).
Magalini, S, et al (eds). Dictionary of Medical Syndromes. 4th edition, J.B. Lippincott Co., Philadelphia, p. 389 (1997).
Franschetti S, Antozzi C., Binelli, S., Carrara, F., Nardocci, N., Zeviani, M., Avanzini, G. Progressive Myoclonus Epilepsies: An Electroclinical, Biochemical,
Morphological and Molecular Genetic Study of 17 Cases. Acta Neurol Scand 87(3):219-223 (1993).
Shibasaki, H. Electrophysiological Studies of Myoclonus. Muscle Nerve 23(3):321-335 (2000).
Hallett, M. Myoclonus and Myoclonic Syndromes. (Chapter 260) In: Engel, J. Jr. and Pedley, T.A. (eds). Epilepsy: A Comprehensive Textbook. Lippincott-Raven
Publishers, Philadelphia. Vol 3, pp. 2717-2723 (1997).
Rapp Hodgkin Syndrome : an extremely rare inherited multisystem disorder that is apparent at birth (congenital) or during infancy, belongs to a group of diseases
known as ectodermal dysplasias. Ectodermal dysplasias typically affect the skin, teeth, hair, and/or nails. Rapp-Hodgkin syndrome is characterized by an impaired ability
to sweat (hypohidrosis or anhidrosis), causing heat intolerance and susceptibility to abnormally increased body temperatures; incomplete closure of the roof of the mouth
(cleft palate) and/or an abnormal groove in the upper lip (cleft lip); partial or complete and/or absence (hypodontia or partial anodontia) and/or abnormal smallness
(microdontia) of certain primary (deciduous) and secondary (permanent) teeth. Infants and children with the disorder also have abnormally sparse, coarse, wiry scalp
hair that is often lost prematurely during adulthood (alopecia); unusually slow-growing, improperly developed nails (dysplastic); and, in some cases, additional physical
abnormalities. In most cases, Rapp-Hodgkin Syndrome is thought to be inherited as an autosomal dominant genetic trait.
Rasmussen's encephalitis: a rare progressive neurological disorder, characterized by frequent and severe seizures, loss of motor skills and speech, hemiparesis
(paralysis on one side of the body), encephalitis (inflammation of the brain), dementia, and mental deterioration. The disorder, which affects a single brain hemisphere,
generally occurs in children under the age of 10.
When seizures have not spontaneously remitted by the time hemiplegia and aphasia are complete, the standard treatment for Rasmussen's encephalitis is surgery to
remove or disconnect the affected part of the brain (hemispherectomy). Although anti-epileptic drugs may be prescribed initially, they are usually not effective in controlling
the seizures. Alternative treatments may include plasmapheresis (the removal and reinfusion of blood plasma), ketogenic diet (high fat, low carbohydrate), and steroids.
Raynaud's Disease and Phenomenon : a common vascular disorder characterized by episodes of constriction of very small arteries (arteriole vasospasm) in the
fingers and skin. Symptoms in the fingers include unusual paleness, absence of color (pallor), and/or a red or bluish color to the skin (cyanosis) usually occurring with
exposure to cold temperatures or stress. Occasionally other parts of the body are affected including the nose, ears, and/or tongue. Raynaud's Disease is a common
benign condition and does not usually occur in association with any other underlying disorder. A secondary form of the disease, known as Raynaud's Phenomenon,
affects a small number of individuals. This form of the disorder is usually found in association with another underlying systemic disorder.
Recurrent Respiratory Papillomatosis : a rare viral disease characterized by multiple benign growths (papillomas) in the middle and lower respiratory tract.
Symptoms usually begin with hoarseness and/or a change in voice. The growths may be surgically removed, but frequently recur and may require additional surgery.
Affected individuals may experience long periods without recurrence (remission), and/or the disease may disappear completely. Children under five years of age are
most commonly affected, although adults represent about one-third of all documented cases. People with Recurrent Respiratory Papillomatosis may have difficulty
breathing (dyspnea) and/or experience other life-threatening complications if the papillomas block the airway.
Reflex Sympathetic Dystrophy Syndrome (RSDS) : a rare disorder of the sympathetic nervous system that is characterized by chronic, severe buring pain. The
sympathetic nervous system is that part of the autonomic nervous system that regulates involuntary, bodily functions such as increasing heart rate, constricting blood
vessels, and increasing blood pressure. Excessive or abnormal responses of portions of the sympathetic nervous system are thought to be responsible for the pain
associated with Reflex Sympathetic Dystrophy Syndrome. It occurs especially after injuries from high-velocity impacts such as those from bullets or shrapnel. However, it
may occur without apparent injury. One visible sign of RSDS near the site of injury is warm, shiny red skin that later becomes cool and bluish.The pain that patients
report is out of proportion to the severity of the injury and gets worse, rather than better, over time. Eventually the joints become stiff from disuse, and the skin, muscles,
and bone atrophy. The symptoms of RSDS vary in severity and duration. The symptoms of Reflex Sympathetic Dystrophy Syndrome typically begin with burning pain,
especially in an arm, finger(s), palm of the hand(s), and/or shoulder(s). In some individuals, RSDS may occur in one or both legs or it may be localized to one knee or
hip. Frequently, RSDS may be misdiagnosed as a painful nerve injury. The skin over the affected area(s) may become swollen (edema) and inflamed. Affected skin may
be extremely sensitive to touch and to hot or cold temperatures (cutaneous hypersensitivity). The affected limb(s) may perspire excessively and be warm to the touch
(vasomotor instability). The exact cause of RSDS is not fully understood, although it may be associated with injury to the nerves, trauma, surgery, atherosclerotic
cardiovascular disease, infection, or radiation therapy.
The disorder is unique in that it simultaneously affects the nerves, skin, muscles, blood vessels, and bones. RSDS can strike at any age but is more common between the
ages of 40 and 60, although the number of RSDS cases among adolescents and young adults is increasing. RSDS is diagnosed primarily through observation of the
symptoms. Some physicians use thermography to detect changes in body temperature that are common in RSDS. X-rays may also show changes in the bone.
Physicians use a variety of drugs to treat RSDS. Elevation of the extremity and physical therapy are also used to treat RSDS. Injection of a local anestheticis usually the
first step in treatment. TENS (transcutaneous electrical stimulation), a procedure in which brief pulses of electricity are applied to nerve endings under the skin, has helped
some patients in relieving chronic pain. In some cases, surgical or chemical sympathectomy -- interruption of the affected portion of the sympathetic nervous system -- is
necessary to relieve pain. Surgical sympathectomy involves cutting the nerve or nerves, destroying the pain almost instantly, but surgery may also destroy other
sensations as well.

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Refsum Syndrome 瑞福森氏症( Phytanic acid storage disease, Heredopathia Atactica Polyneuritiformis 遺傳性共濟失調性多發
性神經炎 ) : a rare disorder of lipid metabolism inherited as a recessive trait. One of a group of genetic disorders called the leukodystrophies that affect growth of
the myelin sheath. Symptoms may include a degenerative nerve disease (peripheral neuropathy), failure of muscle coordination (ataxia), retinitis pigmentosa (a
progressive vision disorder), and bone and skin changes. Symptoms of the disorder may include vision impairments (retinitis pigmentosa), peripheral neuropathy, ataxia
(impaired muscle coordination), impaired hearing, and bone and skin changes. Nystagmus (rapid, involuntary to-and-fro eye movements), anosmia (absence of the
sense of smell), and ichthyosis (a skin disorder causing dry, rough, scaly skin) may also occur. Onset of Refsum disease varies from early childhood to age 50, however,
symptoms usually appear by age 20. The disorder affects both males and females. This disorder is believed to be due to the absence of phytanic acid hydroxylase in the
blood, an enzyme needed for the metabolism of phytanic acid (found in dairy products, beef, lamb and some seafoods). Refsum Syndrome is characterized by a marked
accumulation of phytanic acid in the plasma and tissues. Prolonged treatment with a diet deficient in phytanic acid can be beneficial. This slowly progressive disorder is
most common in children and young adults of Scandinavian heritage. Phytanic Acid is a derivative of phytol, a component of chlorophyll.
Treatment for Refsum disease includes restricting foods that contain phytanic acid. Plasmapheresis (the removal and einfusion of blood plasma) may also be
required.
Berkow, R (ed). The Merck Manual of Diagnosis and Therapy: General Medicine vol. I, 16th edition, Merck & Co., Inc., Rahway, NJ, p.907 (1992)
Bradley, W, et al (eds). Neurology in Clinical Practice: The Neurological Disorders vol. II, 2nd edition, Butterworth-Heinemann, Boston, pp. 910-1911 (1996)
Magalini, S, et al (eds). Dictionary of Medical Syndromes 4th edition, J.B. Lippincott Co., Philadelphia, p. 685 (1997)
Rowland, L (ed). Merritt's Textbook of Neurology 9th edition, Williams & Wilkins, Baltimore, pp. 556-557, 580-581 (1995)
Reifenstein Syndrome (Partial Androgen Insensitivity) : a hereditary form of male pseudohermaphroditism, a condition in which the male has testes but
possesses both male and female sexual characteristics. The severity of androgen (male hormone) insensitivity determines how this syndrome will present itself. In mild
cases of androgen resistance, infertility may be the only symptom. More severe cases may result in hardening of the tubules in the testes, failure of one or both testes to
descend, an abnormal penis in which the urethra opens on the underside, and development of male breasts. The degree of feminization at puberty is not as marked as
in other forms of pseudohermaphroditism.
Reiter's Syndrome : a rare disorder characterized by arthritis, inflammation of the urinary tract (nongonococcal urethritis), and inflammation of the mucous membranes
that line the eyes (conjunctivitis). Painful and swollen joints occur because of an underlying infection (reactive arthritis). Sores (lesions) may also occur on the skin and
the mucous membranes of the mouth. In most cases, Reiter's Syndrome is transmitted through sexual contact (venereal). However, occasionally there is an underlying
infection of the small bowel (enteric) that may contribute to the onset of Reiter's Syndrome. All the symptoms of the disease may not appear at once, and they may also
disappear and then recur.
Renal Agenesis, Bilateral : the absence of both kidneys at birth. It is a genetic disorder characterized by a failure of the kidneys to develop in a fetus. This absence of
kidneys causes a deficiency of amniotic fluid (Oligohydramnios) in a pregnant woman. Normally, the amniotic fluid acts as a cushion for the developing fetus. When there
is an insufficient amount of this fluid, compression of the fetus may occur resulting in further malformations of the baby. This disorder is more common in infants born of a
parent who has a kidney malformation, particularly the absence of one kidney (unilateral renal agenesis). Studies have proven that unilateral renal agenesis and bilateral
renal agenesis are genetically related.
Renal Glycosuria 腎性葡萄糖尿症: also known as renal glucosuria, is a rare condition in which the simple sugar glucose is eliminated (excreted) in the urine
despite normal or low blood glucose levels. With normal kidney (renal) function, glucose is excreted in the urine only when there are abnormally elevated levels of
glucose in the blood. However, in those with renal glycosuria, glucose is abnormally eliminated in the urine due to improper functioning of the renal tubules, which are
primary components of the filtering units of the kidneys (nephrons). In most affected individuals, the condition causes no apparent symptoms (asymptomatic) or serious
effects. When renal glycosuria occurs as an isolated finding with otherwise normal kidney function, the condition is thought to be inherited as an autosomal recessive
trait.
Respiratory Distress Syndrome, Adult 成人呼吸窘迫症: a lung disorder caused by direct injury to the lungs or acute illness. Major symptoms may include
breathing difficulties (dyspnea), rapid breathing (tachypnea), excessively deep and rapid breathing (hyperventilation) and insufficient levels of oxygen in the circulating
blood (hypoxemia).
Respiratory Distress Syndrome, Infant 嬰兒呼吸窘迫症 : a lung disorder that tends to affect premature infants. Major symptoms include difficulty in
breathing and collapsed lungs, potentially requiring mechanical ventilation or positive end-expiratory pressure (PEEP).
Surfactant for infants requiring mechanical ventilation for respiratory distress syndrome has been standard care since 1990.
Jobe AH. Pulmonary surfactant therapy. N Eng J Med 3: 328, 1993.
Restless Legs Syndrome: (RLS) : a neurologic sensori-motor (movement) disorder characterized by abnormal, uncomfortable sensations in the legs that typically
occur during sleep or rest. Such sensations, known as paresthesias or dysesthesias, are often likened to crawling, cramping, aching, burning, itching, or prickling deep
within the affected areas. Although the legs are usually involved, paresthesias or dysesthesias may also sometimes affect the arms or other areas of the body. Affected
individuals feel an irresistible urge to move in response to, or in an effort to alleviate, such sensations. As a result, those with RLS may vigorously move the affected area,
engage in pacing, or perform other, often repetitive movements, such as stretching, bending, or rocking. Symptoms most often become apparent or worsen as an
individual is attempting to go to sleep; in many cases, they also occur during the night, resulting in awakening. Some individuals with RLS may also develop symptoms
during other extended periods of inactivity, such as while sitting in a movie theater or traveling in a car. Restless legs syndrome may occur as a primary condition or
due to another underlying disorder, certain medications, or other factors (secondary or symptomatic RLS). In primary RLS, the disorder may appear to occur sporadically
for unknown reasons (idiopathic). In many of these cases, affected individuals report a family history of the disorder that may suggest autosomal dominant inheritance.
Secondary RLS may occur due to certain conditions such as iron deficiency or low levels of the oxygen-carrying component of red blood cells (anemia); certain chronic
diseases, including diabetes, chronic obstructive pulmonary disease, or Parkinson� s disease; pregnancy; the use of particular medications; or other factors.
Treatment for restless legs syndrome is symptomatic. Massage and application of cold compresses may provide temporary relief. Medications such as temazepam,
levodopa/carbidopa, bromocriptine, pergolide mesylate, oxycodone, propoxyphene, and codeine are effective in relieving the symptoms. However, many of these
medications have side effects. Current research suggests correction of iron deficiency may improve symptoms for some patients.
Hening, W, et al. The treatment of restless legs syndrome and periodic limb movement disorder Sleep, 22; 970-999 (1999)
Hening, W, Walters, A, and Chokroverty, S. Motor functions and dysfunctions of sleep In Sleep Disorders Medicine, Butterworth-Heinemann, Boston, pp. 255-293
(1994)
McGee, S. Restless legs syndrome Journal of American Medical Association, 265:22; 3014 (June 12, 1991)
Montplaisir,J, Lorrain, D, and Godbout, R. Restless legs syndrome and periodic leg movements in sleep and the primary role of dopaminergic mechanisms European
Neurology, 31; 41-43 (1991)
O'Keeffe, S, Gavin, K, and Lavan, J. Iron status and restless legs syndrome in the elderly Age and Ageing, 23:3; 200-203 (1994)
Pelletier, G, Lorrain, D, and Montplaisir, J. Sensory and motor components of the restless legs syndrome Neurology, 42:9; 1663-1666 (September 1992)
Phillips, B, et al. Epidemiology of restless legs syndrome in adults Archives of Medicine, (in press)
Trenkwalder, C, et al. Circadian rhythm of periodic limb movements and sensory symptoms of restless legs syndrome Movement Disorders, 14; 102-110 (1999)
Retinitis Pigmentosa : one of a group of inherited visual disorders that causes the degeneration of the retina of the eyes. Vision gradually decreases and may eventually
be lost. Retinitis Pigmentosa can be associated with deafness and other malfunctions, central nervous system and metabolic disorders, and chromosomal abnormalities.
Retinoblastoma : an extremely rare malignant tumor that develops in the nerve-rich layers of one eye or both eyes, most commonly in children under the age of three
years. The most typical finding associated with retinoblastoma is the appearance of a distinctive white mass in the pupil area behind the lens of the eye or so called
"cat� s eye reflex" (leukokoria). In addition, the eyes may appear crossed (strabismus). In some affected children, the eye(s) may become red and/or painful. The
presence of the tumor may cause a rise in the pressure in the eyeball (glaucoma). In most cases, retinoblastomas occur spontaneously for no apparent reason
(sporadic); however, approximately 20 percent of cases are transmitted as an autosomal dominant genetic trait.
Retinopathy, Arteriosclerotic : a series of changes in the retina that are caused by arteriosclerosis. It is characterized by bleeding in the retina, thick fluid oozing from
the retina, impaired oxygenation of the retina, an abrupt reduction of blood flow to the heart muscle that may cause dying off of tissue (myocardial infarction), and
hardening of the walls of the little arteries (arterioles) in the eye. These degenerative changes can cause vision impairment.
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Retinopathy, Diabetic : a complication of diabetes and a disorder of the light sensitive tissue of the eye (the retina). This condition is characterized by destructive
changes in the blood vessels of the retina, which, if left unchecked, may lead to visual impairment or blindness. The severity of the damage to the retina is highly
correlated with the length of time the patient has had diabetes. For reasons that are not well understood, the blood vessels of the retina lack their normal oxygen load.
Capillaries tend to close off, further depleting the oxygen supply. The diabetes process also weakens the walls of these blood vessels, which tend to become enlarged
and form micro-aneurysms. Not infrequently, the small blood vessels break causing hemorrhage and contributing to the patient's clouded vision.
Retinopathy, Hypertensive : characterized by high blood pressure (hypertension) that results in abnormalities affecting the nerve-rich membrane that lines the eyes
(retina). The most common manifestation of hypertensive retinopathy is narrowing (occlusion) of the tiny arteries (arterioles) of the eye. In some cases, hypertensive
retinopathy may result in loss of clarity of vision (visual acuity).
Retinoschisis : splitting of the eye's retina into two layers. The various forms of this disorder can be inherited or acquired. The disorder is characterized by a slow
progressive loss of parts of the field of vision corresponding to the areas of the retina that have become split. Often, Retinoschisis is associated with the development of
saclike blisters (cysts) in the retina.
Retrolental Fibroplasia : a bilateral eye disorder characterized by abnormality of the retinal vessels. It occurs in premature infants with immature retinas who are
exposed to oxygen in an incubator, and possibly to bright lights. The degree of sight impairment appears to be relative to the oxygen levels in incubators. Oxygen levels
of 30% or more can cause more severe vision impairment.
Retroperitoneal Fibrosis : a rare disorder in which there is a formation of fiber-like tissue behind the membrane that lines the cavity of the abdomen (peritoneum). This
abnormal tissue growth usually affects the tubes that carry the urine from the kidney to the bladder (ureters). Often these tubes are blocked by the excess tissue. In most
cases the cause of this disorder is unknown.
Rett Syndrome : a rare progressive neurodevelopmental disorder that appears to occur exclusively in females. Infants and children with the disorder typically develop
normally until about 7 to 18 months of age, when they may begin to lose previously acquired skills (developmental regression), such as purposeful hand movements and
the ability to communicate. Additional abnormalities typically include slowing of head growth (acquired microcephaly); development of distinctive, uncontrolled
(stereotypic) hand movements, such as hand clapping, rubbing, or "wringing"; and impaired control of voluntary movements required for coordination of walking (gait
apraxia). Affected children also typically develop autistic-like behaviors, breathing irregularities, feeding and swallowing difficulties, growth retardation, and episodes of
uncontrolled electrical activity in the brain (seizures). According to many researchers, Rett Syndrome may result from changes (mutations) of a gene that is transmitted
as an X-linked dominant trait. However, most cases are thought to represent new mutations that appear to occur spontaneously (sporadically) for unknown reasons. In
some affected females, the disorder may result from mutations of a gene known as MECP2 that is located on the long arm (q) of chromosome X (Xq28). The MECP2
gene is thought to play an essential role in brain development.
There is no cure for Rett syndrome; however, there are several treatments options. These include treatments for the orthopedic and learning disabilities and seizures
that may occur in individuals with Rett syndrome. Some children may require special nutritional programs to maintain adequate weight.
Haas, RH. The History and Challenge of Rett Syndrome Journal of Child Neurology, 3; S3-S5 (1988)
Hagberg, BA. (Review Article) Rett Syndrome: Clinical Peculiarities, Diagnostic Approach, and Possible Cause Pediatric Neurology, 5:2; 75-83 (1989)
Percy, AK. Research in Rett Syndrome: Past, Present, and Future Journal of Child Neurology, 3:S72-75 (1988) Neuropediatrics, 26:2:57-128 (1995). (entire issue)
The Rett Syndrome Diagnostic Criteria Work Group. Diagnostic Criteria for Rett Syndrome Annals of Neurology, 23:4; 425-428 (1988)
Reye Syndrome 雷氏徵候 a disease of childhood that primarily affects individuals under 15 years of age, particularly children from approximately age four to 12.
Rarely, infants, older children, or young adults may be affected. The condition's cause is unknown. However, there appears to be an association between the onset of
Reye Syndrome and the use of aspirin-containing medications (salicylates) in children or adolescents with certain viral illnesses, particularly upper respiratory tract
infections (e.g., influenza B) or, in some cases, chickenpox (varicella). It affects all organs of the body but is most harmful to the brain and the liver--causing an acute
increase of pressure within the brain and, often, massive accumulations of fat in the liver and other organs. Reye Syndrome is primarily characterized by distinctive,
fatty changes of the liver and sudden inflammation and swelling of the brain (acute encephalopathy). Associated symptoms and findings include the sudden onset of
severe, persistent vomiting; elevated levels of certain liver enzymes in the blood (hepatic transaminases); disturbances of consciousness; episodes of uncontrolled
electrical disturbances in the brain (seizures), causing involuntary muscle contractions (convulsions); and, in some cases, potentially life-threatening complications.
RS is defined as a two-phase illness because it generally occurs in conjunction with a previous viral infection, such as the flu or chicken pox. The disorder commonly
occurs during recovery from a viral infection, although it can also develop 3 to 5 days after the onset of the viral illness. RS is often misdiagnosed as encephalitis,
meningitis, diabetes, drug overdose, poisoning, sudden infant death syndrome, or psychiatric illness. Due to the potential association between the use of
aspirin-containing agents and the development of Reye Syndrome, it is advised that such medications be avoided for infants, children, adolescents, and young adults
affected by viral infections such as influenza or chickenpox. Symptoms of RS include persistent or recurrent vomiting, listlessness, personality changes such as irritability
or combativeness, disorientation or confusion, delirium, convulsions, and loss of consciousness. If these symptoms are present during or soon after a viral illness,
medical attention should be sought immediately. The symptoms of RS in infants do not follow a typical pattern; for example, vomiting does not always occur. The cause
of RS remains a mystery. However studies have shown that using aspirin or salicylate-containing medications to treat viral illnesses increases the risk of developing RS.
A physician should be consulted before giving a child any aspirin or anti-nausea medicines during a viral illness, which can mask the symptoms of RS.
There is no cure for RS. Successful management, which depends on early diagnosis, is primarily aimed at protecting the brain against irreversible damage by reducing
brain swelling, reversing the metabolic injury, preventing complications in the lungs, and anticipating cardiac arrest. It has been learned that several inborn errors of
metabolism mimic RS in that the first manifestation of these errors may be an encephalopathy with liver dysfunction. These disorders must be considered in all suspected
cases of RS. Some evidence suggests that treatment in the end stages of RS with hypertonic IV glucose solutions may prevent progression of the syndrome.
Kilpatrick-Smith, L, Hale, D, and Douglas, S. Progress in Reye Syndrome: Epidemiology, Biochemical Mechanisms and Animal Models. Digestive Diseases, 7:3;
135-146 (1989).
Pinsky, P, Hurwitz, E, and Schonberger, L. Reye's Syndrome in Children: Low-Dose Aspirin Implicated. Modern Medicine, 57; 115 (February 1989).
Various. Public Health Service Study of Reye's Syndrome and Medications. ournal of the American Medical Association, 257:14; 1905-1911a (April 10, 1987).
Trauner, D. What is the Best Treatment for Reye's Syndrome? Archives of Neurology, 43:7; 729-731 (July 1986).
Rh Disease : or Rh incompatibility (also known as Erythroblastosis Fetalis) occurs when a woman with Rh-negative blood conceives a child with Rh-positive blood. Red
blood cells are destroyed (hemolysis) because of this incompatibility, leading to anemia and other symptoms in the infant. Symptoms vary in severity among affected
infants and may include an unusual yellowish coloration of the skin (jaundice); swelling of the chest and abdomen due to the accumulation of fluid (edema); and/or a pale
appearance of the skin. In more severe cases, affected infants may have experience life-threatening complications. Rh Disease occurs only when a mother� s blood is
Rh-negative and her baby� s blood is Rh-positive.
Rheumatic Fever 風濕熱 inflammatory syndrome that can occur following streptococcal infections of the throat (strep throat). Patients initially experience moderate
fever, a general feeling of ill health (malaise), a sore throat, and fatigue. Major complications can include heart disease, joint pain and arthritis, involuntary abrupt limb
movements with characteristic grimaces (chorea), and possible skin symptoms. Treatment should begin as soon as possible and be maintained for months or even
years to help control serious complications. Rheumatic fever can be avoided if strep throat is vigorously treated and cured with antibiotics.
Rickets, Hypophosphatemic : a rare genetic form of Rickets characterized by impaired transport of phosphate and diminished Vitamin-D metabolism in the kidneys.
Additionally, calcium and phosphate are not absorbed properly in the intestines which can lead to softening of bones. Major symptoms include skeletal changes,
weakness and slowed growth. Cases affecting females are usually less severe than those affecting males. One rare acquired form of this disorder may be associated
with a benign tumor.
Rickets, Vitamin D Deficiency : a disorder that becomes apparent during infancy or childhood, is characterized by insufficient amounts of vitamin D in the body. The
vitamin deficiency may be caused by poor nutrition, a lack of exposure to the sun, or malabsorption syndromes in which the intestines do not adequately absorb
nutrients from foods. Vitamin D is needed for the metabolism of calcium and phosphorus in the body, which, in turn affects how calcium is deposited in the bones. Major
symptoms of Vitamin-D Deficiency Rickets include bone disease, restlessness, and slow growth. This disorder is rare in the United States but is not uncommon in certain
areas of the world.
Rieger Syndrome : a rare autosomal dominant genetic disorder characterized by absence (hypodontia or partial adontia) and/or malformation of certain teeth; mild
craniofacial abnormalities; and various eye abnormalities. The eye abnormalities (referred to as Rieger Eye Malformations) may be present alone or as a part of Rieger

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 Syndrome.
Roberts Syndrome : an extremely rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation); distinctive
abnormalities of the head and facial (craniofacial) area, the eyes, and/or the arms and legs (limbs); and/or other symptoms and findings. In many cases, craniofacial
abnormalities may include an unusually small, broad head (microbrachycephaly); abnormal grooves on either side of the upper lip and incomplete development of both
sides of the roof of the mouth (bilateral cleft lip and palate); thin, small nostrils (hypoplastic nasal alae); low-set and/or malformed (dysplastic) ears; and/or benign tumors
consisting of a mass of small blood vessels (capillary hemangiomas) on the forehead, midface, and/or ears. In infants and children with the disorder, characteristic eye
(ocular) abnormalities may include the abnormal development of blood vessels within the front, clear portion of the eyes (corneal vascularization) and/or abnormal
clouding of the corneas (corneal opacities), potentially causing blindness. In addition, in affected infants and children, all four limbs may be incompletely developed (limb
reduction abnormalities), although the arms are usually more severely affected. Such limb reduction abnormalities may include malformation of the hands and absence
of certain fingers (oligodactyly); abnormal shortness, underdevelopment (hypoplasia), or absence (aplasia) of the bones on the thumb or pinky side of the forearms
(radius or ulna); and/or incomplete development or absence of certain bones (e.g., fibula) of the lower legs. In approximately half of affected individuals, mental
retardation may also be present. The range and severity of symptoms vary from case to case. Roberts Syndrome is inherited as an autosomal recessive genetic trait.
Robinow Syndrome : an extremely rare inherited disorder characterized by mild to moderate short stature due to growth delays after birth (postnatal growth retardation);
distinctive abnormalities of the head and facial (craniofacial) area; additional skeletal malformations; and/or genital abnormalities. The facial features of infants with
Robinow syndrome resemble those of an eight-week-old fetus; within the medical literature, this condition is often referred to as "fetal face." Characteristic craniofacial
features may include an abnormally large head (macrocephaly) with a bulging forehead (frontal bossing); widely spaced eyes (ocular hypertelorism) that are abnormally
prominent; a small, upturned nose with nostrils that are flared forward (anteverted); and/or a sunken (depressed) nasal bridge. Skeletal malformations may include
forearm bones (radius and ulna) that are unusually short (forearm brachymelia), abnormally short fingers and toes, permanent fixation of the fifth fingers in a bent
position (clinodactyly), unusually small hands with broad thumbs, malformation of the ribs, abnormal side-to-side curvature of the spine (scoliosis), and/or
underdevelopment of one side of the bones in the middle (thoracic) portion of the spinal column (hemivertebrae). Genital abnormalities associated with Robinow
syndrome may include an abnormally small penis (micropenis) and failure of the testes to descend into the scrotum (cryptorchidism) in affected males and
underdevelopment (hypoplasia) of the clitoris and the outer, elongated folds of skin on either side of the vaginal opening (labia majora) in affected females. The range
and severity of symptoms vary from case to case. In some cases, Robinow syndrome has autosomal dominant inheritance; in other cases, the disorder may have an
autosomal recessive mode of inheritance. According to the medical literature, individuals with the recessive form of Robinow syndrome may have more numerous
abnormalities of the ribs and the bones of the spinal column (vertebrae) than in the dominant form of the disorder. In addition, the symptoms and physical findings
associated with the recessive form tend to be more severe.
Rocky Mountain Spotted Fever (RMSF) : a rare infectious disease that belongs to a group of diseases known as the Spotted Fever Group Rickettsioses. Often
considered the most potentially severe of the spotted fevers, Rocky Mountain Spotted Fever is caused by the bacterium Rickettsia rickettsii (R. rickettsii). In the majority
of affected individuals, infection with the R. rickettsii bacterium damages certain cells (endothelial cells) lining the blood vessels and lymphatic ducts as well as certain
involuntary muscle cells. Such damage triggers an inflammatory response including inflammation of certain blood vessels (vasculitis) and blood clotting abnormalities,
resulting in the symptoms and findings associated with the disease. Approximately two to 14 days after initial infection, symptoms associated with Rocky Mountain
Spotted Fever may include extremely severe headaches, a high fever, chills, and muscle pain (myalgia). Additional symptoms early in the course of the disease may
include nausea, vomiting, loss of appetite (anorexia), and/or diarrhea. Without prompt, appropriate treatment, R. rickettsii infection continues to progress; in such cases,
associated symptoms and findings vary, depending upon the location and severity of inflammatory responses and clotting abnormalities. Vessels and tissues in several
areas of the body may be affected including the skin, abdominal area, liver, spleen, eyes, lungs, heart, brain, spinal cord, and/or kidneys. In a majority of individuals with
Rocky Mountain Spotted Fever, a distinctive rash develops during the course of the disease. The rash may initially appear on the skin of the wrists and ankles and then
spread to involve the palms of the hands, the soles of the feet, and, eventually, the trunk, the buttocks, and the neck and facial areas. The rash initially consists of small,
flat pinkish spots (macules). Without treatment, the rash may develop small raised areas (papules) and small purplish spots (petechia) that may merge into larger, bluish
or purplish patches (ecchymosis). In some severe cases, these patches may become open sores (ulcers) with localized areas of tissue loss (necrosis). In some
individuals with Rocky Mountain Spotted Fever, additional symptoms and findings may become apparent. If timely, appropriate treatment is not received, affected
individuals may experience life-threatening complications due to associated respiratory problems, heart (cardiac) involvement, neurological abnormalities, and/or kidney
(renal) failure. Most outbreaks of Rocky Mountain Spotted Fever occur in the Eastern, Southeastern, and Midwestern United States. In most cases, infection with the
R. rickettsii bacterium results from tick bites. Several different types of ticks serve as "vectors" for the disease, carrying and transmitting the R. rickettsii bacterium to
humans.
Romano Ward Syndrome : a genetic heart disorder. Symptoms usually begin during infancy or early childhood, although onset during adulthood is possible. Recurrent
symptoms such as fainting, convulsive seizures and/or heart beat irregularities with chest pain may occur. Physical exertion, excitement or stress may trigger onset of
symptoms.
Rosenberg Chutorian Syndrome : a very rare syndrome thought to be inherited as an X-linked semidominant genetic trait. Symptoms of Rosenberg-Chutorian
Syndrome become apparent during infancy or puberty. Sensorineural hearing loss, optic atrophy resulting in loss of vision, and noninflammatory degenerative nerve
disease (polyneuropathy) of the upper and/or lower limbs are the major characteristics found in affected individuals.
Roseola Infantum roseola infantum 幼兒玫瑰疹 : an acute infectious disorder of infants or very young children. Characterized by high fever and the
appearance of a red skin rash, this disorder may resemble Rubella after the fever has disappeared. Seizures may also occur.
Rothmund Thomson Syndrome : an extremely rare inherited multisystem disorder that is usually apparent during early infancy. The disorder is typically
characterized by distinctive abnormalities of the skin, defects of the hair, clouding of the lenses of the eyes (juvenile cataracts), short stature and other skeletal
abnormalities, malformations of the head and facial (craniofacial) area, and other physical abnormalities. In rare cases, mental retardation may be present. The range
and severity of symptoms may vary from case to case. During early infancy, individuals with Rothmund-Thomson Syndrome develop abnormally red, inflamed patches
(plaques) on the skin (erythema) accompanied by abnormal accumulations of fluid between layers of tissue under the skin (edema). Such plaques typically first appear
on the cheeks. In most cases, additional areas of the skin may then become involved to a lesser degree (e.g., the skin of the ears, forehead, chin, hands, forearms,
lower legs, etc.). Inflammation eventually tends to recede and the skin of affected areas develops a condition known as poikiloderma, characterized by abnormal
widening (dilation) of groups of small blood vessels (telangiectasia); skin tissue degeneration (atrophy); and patchy areas of abnormally decreased and/or unusually
increased pigmentation (depigmentation and hyperpigmentation). In many cases, additional skin abnormalities may also occur. Many infants and children with
Rothmund-Thomson Syndrome also have additional physical abnormalities including hair that is gray and abnormally sparse; the development of abnormal clouding of
the lenses of the eyes (juvenile cataracts); growth delays leading to mild to severe short stature (dwarfism); and/or additional skeletal abnormalities such as unusually
small, short hands and feet, underdeveloped (hypoplastic) or absent thumbs, and/or underdeveloped (hypoplastic) or missing forearm bones (ulna and radii). Affected
infants and children may also have characteristic abnormalities of the craniofacial area including a prominent forehead (frontal bossing), a sunken nasal bridge (saddle
nose), a protruding lower jaw (prognathism), and/or dental abnormalities. In some cases, affected individuals may have additional physical abnormalities including
deficient activity of the ovaries in females or testes in males (hypogonadism), resulting in irregular menstruation in affected females and delayed sexual development in
affected males and females. Rothmund-Thomson Syndrome is inherited as an autosomal recessive genetic trait.
Roussy Levy Syndrome : also known as hereditary areflexic dystasia, is a rare genetic neuromuscular disorder that typically becomes apparent during early childhood.
The disorder is characterized by incoordination, poor judgment of movements (sensory ataxia), and absence of reflexes (areflexia) of the lower legs and, eventually, the
hands; weakness and degeneration (atrophy) of muscles of the lower legs; abnormally high arches of the feet with increased extension of the toes (pes cavus or
"clawfoot"); and tremors of the hands. Many affected individuals also have an abnormal front-to-back and sideways curvature of the spine (kyphoscoliosis). In individuals
with Roussy-Levy Syndrome, there is a failed communication of certain nerve signals to muscles of the lower legs (denervation). Roussy-Levy Syndrome is inherited as
an autosomal dominant genetic trait.
Rubella : a contagious viral disease characterized by sore throat, fever, swelling of lymph glands, and a rash. Maternal infection with Rubella during the early months of
pregnancy may cause miscarriage or severe congenital defects in a newborn infant.
Rubella, Congenital : a syndrome that occurs when a fetus has been infected with the Rubella virus while in the uterus. It is primarily characterized by abnormalities of
the cardiovascular system, the eyes and the ears. Women who contract Rubella during pregnancy have a high risk of having a baby with Congenital Rubella.
Rubinstein Taybi Syndrome : a rare genetic multisystem disorder that affects many organ systems of the body. The group of findings (constellation) associated with
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 this syndrome include growth retardation and delayed bone age; mental retardation; distinctive abnormalities of the head and face (craniofacial dysmorphism), including
widely spaced eyes (hypertelorism), a broad nasal bridge, and an abnormally large or "beak-shaped" nose; abnormally broad thumbs and great toes (halluces); and/or
breathing and swallowing difficulties. In addition, most affected children experience delays in attaining developmental milestones (e.g., sitting, crawling, walking, talking,
etc.) and/or delays in the acquisition of skills requiring coordination of muscular and mental activity (psychomotor retardation). Additional craniofacial abnormalities may
include an abnormally small head (microcephaly); a highly-arched roof of the mouth (palate); an unusually small (hypoplastic) lower jaw (micrognathia); crossed eyes
(strabismus); droopy eyelids (ptosis); downwardly slanting eyelid folds (palpebral fissures); and/or an extra fold of skin on either side of the nose that may cover the eyes'
inner corners (epicanthal folds). In addition, many individuals with Rubinstein-Taybi syndrome may have malformations of the heart, kidneys, urogenital system, and/or
skeletal system. In most cases, the skin is also affected. The range and severity of symptoms and physical findings may vary widely from case to case. Most cases of
Rubinstein-Taybi syndrome occur randomly, for no apparent reason (sporadic).
Russell Silver Syndrome (RSS) : a very rare genetic disorder characterized by growth delays before birth (prenatal or intrauterine growth retardation); overgrowth of
one side of the body (hemihypertrophy or asymmetry); unusual characteristic facial features; and other physical abnormalities. Growth delays before birth affect both
weight and linear growth. As a result, although carried to full term (normal gestational age), affected infants may be abnormally small and have low birth weight. In
addition, growth delays and immature bone development (growth retardation and delayed bone age) continue after birth (postnatally). As a result, affected children may
exhibit short stature and may be unusually small and thin for their age. In most cases (65 to 80 percent), asymmetry or overgrowth of one side of the body is obvious at
birth. Asymmetry may affect the head, trunk, arms, and/or legs. The extent and severity of asymmetry vary greatly among affected children. Characteristic facial features
may include a triangular-shaped face with a small, pointed chin; an abnormally prominent forehead (frontal bossing); bluish discoloration of the tough, outer membranes
covering the eyeballs (blue sclera); an unusually small, wide mouth; downturned corners of the mouth; and/or an abnormally small jaw (micrognathia). The range and
severity of symptoms associated with Russell-Silver Syndrome vary greatly from case to case. Other physical findings associated with this disorder may include
permanent fixation of the fifth fingers in a bent position (clinodactyly); webbing of the second and third toes (syndactyly); underdevelopment (hypoplasia) of certain bones
of the fingers (phalanges); development of smooth, coffee-colored patches on the skin (cafe-au-lait spots); and/or abnormalities of the kidney and urinary tract. Most
cases of Russell-Silver Syndrome are the result of new genetic changes (mutations) that occur randomly for no apparent reason (sporadic). If this mutation were to be
inherited, it would do so as an autosomal dominant genetic trait. In rare cases, it is thought that the disorder may be inherited as an autosomal recessive genetic trait. In
addition, a rare form of Russell-Silver Syndrome is thought to be inherited as an X-linked dominant genetic trait.
Ruvalcaba Syndrome : a rare inherited disorder characterized by short stature, abnormalities affecting the head and facial (craniofacial) area, mental retardation,
skeletal malformations, and/or underdeveloped (hypoplastic) genitalia. Characteristic craniofacial features include an abnormally small head (microcephaly); an
abnormally small, narrow nose; and downslanting eyelid folds (palpebral fissures). Skeletal malformations may include fifth fingers that are permanently fixed in a bent
position (clinodactyly) and/or abnormally short bones between the wrists and the fingers (metacarpals) and the ankles and toes (metatarsals), resulting in unusually
small hands and feet. In addition, affected children may have abnormal side-to-side curvature of the spine (scoliosis) and/or unusual prominence of the breast bone
(pectus carinatum). Ruvalcaba syndrome is thought to be inherited as an autosomal dominant genetic trait.

S
Saethre Chotzen Syndrome (Acrocephalosyndactyly Type III) : a rare inherited disorder characterized by various malformations of the head, face, and/or
skeletal system. Physical features may include an unusually short and broad head (brachycephaly), an unbalanced appearance to the head (cranial asymmetry), widely
spaced eyes, and/or droopy eyelids (ptosis). Abnormalities of the fingers and/or toes such as unusually short fingers (brachydactyly) and mild webbing of some fingers
(syndactyly) may also be present. Growth delays may occur, leading to less than average adult height. Intelligence is usually normal, but mild to moderate mental
retardation may occur. Saethre-Chotzen Syndrome is believed to be inherited as an autosomal dominant genetic trait.
Sakati Syndrome : (Acrocephalopolysyndactyly Type III) is an extremely rare inherited disorder characterized by malformations of the head and face; abnormalities of the
hands, feet, and legs; and congenital heart disease. Sakati Syndrome is thought to be caused by a genetic change (mutation) in mature parents that occurs for no
apparent reason (sporadic).
Sandhoff Disease : a rare inherited lipid storage disorder resulting in the progressive deterioration of the central nervous system. A deficiency of the enzyme
hexosaminidase (beta-subunit) results in the accumulation of certain fats (lipids or fatty acids) in the brain and other organs of the body. Sandhoff Disease is a severe
form of Tay-Sachs Disease and is not limited to any particular ethnic group.
Sanfilippo Syndrome 聖菲力波氏症( 黏多醣症第三型 ): Mucopolysaccharidoses (MPS Disorders) are a group of rare genetic disorders caused by the
deficiency of one of the lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules. The
accumulation of these large, undegraded mucopolysaccharides in the cells of the body causes a number of physical symptoms and abnormalities. Sanfilippo Syndrome
(MPS III), an autosomal recessive hereditary disorder, is characterized by severe mental deterioration, mild physical defects and the excretion of heparan sulfate in the
urine. There are four types of Sanfilippo Syndrome; types A and B are the most common forms.
Santavuori Disease : an extremely rare inherited disorder, belongs to a group of progressive degenerative neurometabolic diseases known as the neuronal ceroid
lipofuscinoses (NCL). These diseases share certain similar symptoms and are distinguished in part by the age at which such symptoms appear. Santavuori Disease is
considered the infantile form of the neuronal ceroid lipofuscinoses. In most cases, infants with Santavuori Disease appear to develop normally until approximately nine to
19 months of age. They may then begin to exhibit a delay in the acquisition of skills that require the coordination of mental and muscular activity (psychomotor
retardation). In addition, affected infants begin to lose previously acquired physical and mental abilities (developmental regression). Affected infants may then experience
a variety of symptoms including episodes of uncontrolled electrical disturbances in the brain (seizures), impaired ability to coordinate voluntary movements (cerebellar
ataxia), abnormally diminished muscle tone (hypotonia), and repeated, brief, shock-like muscle spasms of the arms, legs, or entire body (myoclonic seizures). Affected
infants also experience progressive visual impairment due to deterioration of the nerves of the eyes (optic nerves) that transmit impulses from the nerve-rich membranes
lining the eyes (retina) to the brain (optic atrophy). Neurological impairment continues to progress and may be characterized by an inability to move voluntarily
(immobility); sudden involuntary muscle spasms (spasticity); and lack of response to stimuli in the environment. Life-threatening complications may develop by the end
of the first decade. The symptoms and physical characteristics of Santavuori Disease result due to abnormal accumulation of certain fatty, granular substances (i.e.,
pigmented lipids [lipopigments] ceroid and lipofuscin) within nerve cells (neurons) of the brain as well as other tissues of the body. Santavuori Disease is inherited as an
autosomal recessive genetic trait.
Sarcoidosis 類肉瘤病 multisystem disorder that most often affects individuals between 20 and 40 years of age. Females appear to be affected more frequently than
males. Sarcoidosis is characterized by the abnormal formation of inflammatory masses or nodules (granulomas) consisting of certain granular white blood cells (modified
macrophages or epithelioid cells) in certain organs of the body. The granulomas that are formed are thought to affect the normal structure of and, potentially, the normal
functions of the affected organ(s), causing symptoms associated with the particular body system(s) in question. In individuals with sarcoidosis, such granuloma formation
most commonly affects the lungs. However, in many cases, the upper respiratory system, lymph nodes, skin, and/or eyes may be involved. In addition, in some cases,
other organs may be affected including the liver, bone marrow, spleen, musculoskeletal system, heart, salivary glands, and/or nervous system (i.e., central or peripheral
nervous system). The range and severity of symptoms associated with sarcoidosis vary greatly, depending upon the specific organ(s) involved and the degree of such
involvement. In some cases, the symptoms of sarcoidosis may begin suddenly (acute), sometimes severely, and subside in a relatively short period of time (self limited).
Acute sarcoidosis is often characterized by fatigue, fever, generalized muscle aches, difficulty breathing (dyspnea), joint pain, swollen glands, skin eruptions, eye
irregularities, and/or other symptoms. In the subacute form, affected individuals may experience no symptoms (asymptomatic), even with organ involvement. In the
chronic form of sarcoidosis, symptoms may appear slowly and subtly and may persist or recur over a long time span. Initial symptoms of the chronic form of the disorder
may include difficulty breathing (dyspnea), dry cough, limited airflow, and other respiratory abnormalities. Symptoms associated with other organ involvement may follow.
The exact cause of sarcoidosis is not known. However, possible infectious, environmental, genetic, and immunological factors are under investigation as potential
causes of the disorder.
Sarcoma, Ewing's 肉瘤 : a malignant tumor of bone (i.e., primitive small round cell tumor) that may invade surrounding soft tissues. In many cases, Ewing� s Sarcoma
affects the shafts of the long bones (diaphyses) of the legs or arms. Ewing� s Sarcoma may also develop in bones of the foot, the hand, the spinal column (vertebrae), the
pelvis, the lower jaw (mandible), the skull, and/or other locations. Individuals with Ewing�s Sarcoma often experience associated pain and swelling, fever, and abnormally
increased levels of circulating white blood cells (leukocytosis). Ewing� s Sarcoma affects males more often than females and usually develops between the ages of 10

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 and 20 years. The exact cause of Ewing�
s Sarcoma is not known.
Schindler Disease 辛德勒氏病(一種神經節醣脂貯積症) are inherited metabolic disorder characterized by a deficiency of the lysosomal enzyme
alpha-N-acetylgalactosaminidase (alpha-NAGA). The disorder belongs to a group of diseases known as lysosomal storage disorders. Lysosomes function as the primary
digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients, such as certain fats and carbohydrates. In individuals with Schindler
Disease, deficiency of the alpha-NAGA enzyme leads to an abnormal accumulation of certain complex compounds (glycosphingolipids) in many tissues of the body.
There are two forms of Schindler Disease. The classical form of the disorder, known as Schindler Disease, Type I, has an infantile onset. Affected individuals appear to
develop normally until approximately 1 year of age, when they begin to lose previously acquired skills that require the coordination of physical and mental activities
(developmental regression). Additional neurological and neuromuscular symptoms may become apparent, including diminished muscle tone (hypotonia) and weakness;
involuntary, rapid eye movements (nystagmus); visual impairment; and episodes of uncontrolled electrical activity in the brain (seizures). With continuing disease
progression, affected children typically develop restricted movements of certain muscles due to progressively increased muscle rigidity, severe mental retardation,
hearing and visual impairment, and a lack of response to stimuli in the environment. Schindler Disease, Type II, which is also known as Kanzaki Disease, is the
adult-onset form of the disorder. Associated symptoms may not become apparent until the second or third decade of life. In this milder form of the disease, symptoms
may include the development of clusters of wart-like discolorations on the skin (angiokeratomas); permanent widening of groups of blood vessels (telangiectasia),
causing redness of the skin in affected areas; relative coarsening of facial features; and mild intellectual impairment. The progressive neurological degeneration
characteristically seen in the infantile form of the disease has not occurred in association with Schindler Disease, Type II. Both forms of Schindler Disease are inherited
as autosomal recessive traits. According to investigators, different changes (mutations) of the same gene are responsible for the infantile- and adult-onset forms of the
disease. The gene has been mapped to the long arm (q) of chromosome 22 (22q11).
Schinzel Giedion Syndrome : a very rare disorder thought to be inherited as an autosomal recessive genetic trait. One of the major symptoms of this disorder is an
obstruction of the tube that carries urine from the kidney into the bladder (ureter) causing the pelvis and kidney duct to become swollen with an accumulation of urine
(hydronephrosis). Other symptoms characteristic of Schinzel-Giedion Syndrome are excessive growth of hair (hypertrichosis), a flat midface, seizures or abnormal brain
activity, apneic spella, abnormalities of the skeleton, mental retardation, and short arms and legs.
Schinzel Syndrome : also known as Ulnar-Mammary Syndrome (UMS), is an extremely rare inherited disorder characterized by abnormalities affecting the bones of the
forearms and hands and/or underdevelopment (hypoplasia) and dysfunction of certain sweat (apocrine) glands and/or the breasts (mammary glands). Abnormalities
affecting the hands and/or forearms may range from underdevelopment (hypoplasia) of the bone in the tip of the fifth finger (hypoplastic terminal phalanx) to
underdevelopment or complete absence of the bone on the outer aspect of the forearm (ulna) and certain fingers (e.g., third, fourth, fifth). In addition, affected infants
may have additional finger (digital) malformations with or without ulnar and/or digital abnormalities on the other side of the body (contralateral limb deficiencies), such as
extra fingers on the "pinky" side of the hand (postaxial polydactyly). In addition, certain sweat glands (apocrine glands), such as those located under the arms, may be
underdeveloped or absent, resulting in diminished ability or inability to sweat (perspire). In some cases, the breasts (mammary glands) may also be underdeveloped or
absent; as a result, affected females exhibit a diminished ability or an inability to produce milk (lactate). Other abnormalities associated with Schinzel Syndrome may
include absent or incorrectly positioned (ectopic) teeth, delayed growth, and/or abnormally low levels of testicular function in males (hypogenitalism), resulting in delayed
development of secondary sexual characteristics (puberty). The range and severity of physical abnormalities associated with Schinzel Syndrome may vary greatly
among affected individuals; some cases may be very mild, while others may be more severe. Schinzel Syndrome is inherited as an autosomal dominant genetic trait.
Schizencephaly: an extremely rare developmental disorder characterized by abnormal slits, or clefts, in the brain's cerebral hemispheres. Schizencephaly is a form of
porencephaly in which there is a cyst or cavity in the cerebral hemispheres. Individuals with clefts in both hemispheres (bilateral clefts) are commonly developmentally
delayed and have delayed speech and language skills and corticospinal dysfunction. Individuals with smaller, unilateral clefts (clefts in only one hemisphere) are often
paralyzed on one side of the body and may have normal intelligence. Patients with schizencephaly may also have varying degrees of microcephaly (abnormally small
head), mental retardation, hemiparesis or quadriparesis (partial or complete paralysis), and reduced muscle tone (hypotonicity). Most patients have seizures. Some may
have hydrocephalus.
Treatment for individuals with schizencephaly generally consists of physical therapy, treatment for seizures, and, in cases that are complicated by hydrocephalus, a shunt
(a surgically implanted tube that diverts fluid from one pathway to another).
Asbury, A, et al (eds). Diseases of the Nervous System: Clinical Neurobiology. vol. I, 2nd edition, W.B. Saunders Co., Philadelphia, pp. 618-621 (1992).
Barth, P. Schizencephaly and Nonlissencephalic Cortical Dysplasias. American Journal of Neuroradiology, 13; 104-106 (January/February 1992).
Barkovich, A, and Kjos, B. Schizencephaly: Correlation of Clinical Findings with MR Characteristics. American Journal of Neuroradiology, 13;85-94
(January/February 1992).
Aniskiewicz, A, et al. Magnetic Resonance Imaging and Neurobehavioral Correlates in Schizencephaly. Archives of Neurology, 47; 911-916 (August 1990).
Schmid Type Metaphyseal Chondrodysplasia : a very rare inherited disorder characterized by short stature with abnormally short arms and legs (short-limbed
dwarfism). Other physical characteristics may include outward "flaring" of the bones of the lower rib cage, bowed legs (genu varum), pain in the legs, and/or hip
deformities in which the thigh bone is angled toward the center of the body (coxa vara). Such abnormalities of the legs and hips typically result in an unusual "waddling"
walk (gait). Schmid Type Metaphyseal Chondrodysplasia is thought to be inherited as an autosomal dominant genetic trait.
Schmidt Syndrome : a rare disorder in which there are multiple deficiencies in the glands that secrete hormones. This syndrome is characterized by the presence of
Addison's disease and hypothyroidism. Insulin-Dependent Diabetes and failure of additional hormone secreting (endocrine) glands such as the gonads, parathyroids,
and pancreas may also occur along with autoimmune type abnormalities. Most cases of this disorder are sporadic although some scientists believe that there could be a
familial or hereditary trait associated with Schmidt Syndrome.
Schwartz Jampel Syndrome : a rare genetic disorder characterized by abnormalities of the skeletal muscles, including muscle weakness and stiffness (myotonic
myopathy); abnormal bone development (bone dysplasia); permanent bending or extension of certain joints in a fixed position (joint contractures); and/or growth delays
resulting in abnormally short stature (dwarfism). Affected individuals may also have small, fixed facial features and various abnormalities of the eyes, some of which may
cause impaired vision. The range and severity of symptoms may vary from case to case. Two types of the disorder have been identified that may be differentiated by age
of onset and other factors. Schwartz-Jampel Syndrome Type 1, which is considered the classical form of the disorder, may become apparent during early to late infancy
or childhood. Schwartz-Jampel Syndrome Type 2, a rarer form of the disorder, is typically recognized at birth. Both forms of Schwartz-Jampel Syndrome are thought to
be inherited as an autosomal recessive trait.
Scleroderma 硬皮症 : a rare connective tissue disorder characterized by abnormal thickening of the skin. Connective tissue is composed of collagen, which supports
and binds other body tissues. There are several types of Scleroderma. Some types affect certain, specific parts of the body, while other types can affect the whole body
and internal organs (systemic).
Scott Craniodigital Syndrome With Mental Retardation : an extremely rare inherited disorder characterized by mental retardation and various physical
abnormalities affecting the head and facial (craniofacial) area and the fingers and/or toes (digits). Characteristic craniofacial features may include a short, wide head
(brachycephaly); a small, narrow nose; widely spaced eyes (ocular hypertelorism); and/or an abnormally small lower jaw (mandible). In addition, some children may
have a "startled" expression to their faces. Other characteristic features may include webbing of some of the fingers and toes (syndactyly); uncommon skin ridge
patterns (dermatoglyphic patterns) on the palms of the hands; and/or abnormal inward turning of the heel of the foot (talipes varus). In addition, individuals with this
disorder may have thick scalp hair with an extended hairline; long, dark eyelashes; abnormally thick eyebrows; and/or excessive hair growth on other areas of the body
(hirsutism). Scott Craniodigital Syndrome With Mental Retardation is thought to be inherited as an X-linked recessive genetic trait.
Seckel Syndrome : an extremely rare inherited disorder characterized by growth delays prior to birth (intrauterine growth retardation) resulting in low birth weight. Growth
delays continue after birth (postnatal) resulting in short stature (dwarfism). Other symptoms and physical features associated with Seckel Syndrome include an
abnormally small head (microcephaly); varying degrees of mental retardation; and/or unusual characteristic facial features including "beak-like" protrusion of the nose.
Other facial features may include abnormally large eyes, a narrow face, malformed ears, and/or an unusually small jaw (micrognathia). In addition, some affected infants
may exhibit permanent fixation of the fifth fingers in a bent position (clinodactyly), malformation (dysplasia) of the hips, dislocation of a bone in the forearm (radial
dislocation), and/or other physical abnormalities. Seckel Syndrome is thought to be inherited as an autosomal recessive genetic trait.
Seitelberger Disease (Infantile Neuroaxonal Dystrophy) : also known as Infantile Neuroaxonal Dystrophy, is an extremely rare inherited degenerative
disorder of the nervous system characterized by abnormalities of nerve endings (axons) within the brain and spinal cord (central nervous system) and outside the central
nervous system (peripheral nerves). In most cases, infants and children with Seitelberger Disease appear to develop normally until approximately 14 to 18 months of
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 age, when they may begin to experience progressively increased difficulties in walking. In other cases, symptoms may begin at approximately six to eight months of age,
at which time infants may experience delays or an arrest in the acquisition of skills requiring the coordination of mental and physical activities (delayed psychomotor
development). Affected infants and children may then begin to lose previously acquired skills (psychomotor regression) including sitting and standing and may
demonstrate progressive neuromuscular impairment characterized by generalized muscle weakness, severely diminished muscle tone (hypotonia), abnormally
exaggerated reflex responses (hyperreflexia), and/or unusually weak, depressed, or absent reflexes. In some cases, as the disorder progresses, affected children may
also experience involuntary movements of the face and hands, sudden involuntary muscle spasms (spasticity) of the lower arms and legs (limbs), and progressive
paralysis of the legs and lower part of the body (paraplegia). Progressive mental retardation occurs in association with gradual motor impairment. Children with
Seitelberger Disease also experience progressive neurological impairment including involuntary, rapid, side-to-side movements of the eyes (pendular nystagmus);
crossing of the eyes (strabismus); gradual deterioration of the nerves of the eyes (optic atrophy), progressing to blindness; and/or hearing impairment. As neurological
impairment progresses, affected children may experience disorientation and loss of intellectual function (dementia); impaired response to touch (tactile stimulation);
uncontrolled, rigid extensions and rotations of the arms, legs, fingers, and toes due to progressively degenerative brain abnormalities (decerebrate rigidity); and
increased susceptibility to repeated infections of the respiratory tract. Life-threatening complications may develop by the end of the first decade. The symptoms and
physical characteristics associated with Seitelberger Disease occur due to swelling and degeneration of nerve endings (dystrophic axonal swellings or "spheroids") in
certain areas of the brain and spinal cord (central nervous system or neuroaxis) and outside the central nervous system (peripheral nerves). In most cases, Seitelberger
Disease is inherited as an autosomal recessive genetic trait.
Sennetsu Fever : a rare infectious disease belonging to a group of diseases known as the Human Ehrlichioses. These diseases are caused by bacteria belonging to the
"Ehrlichia" family. Several forms of Human Ehrlichial infection have been identified including Sennetsu Fever, Human Monocytic Ehrlichiosis (HME), and Human
Granulocytic Ehrlichiosis (HGE). Though caused by different strains of Ehrlichia bacteria, the disorders are all characterized by similar symptoms. The symptoms of
Sennetsu Fever may include a sudden high fever, headache, and muscle aches (myalgia) within a few weeks after initial infection. In some cases, affected individuals
may also experience nausea, vomiting, and/or loss of appetite (anorexia). In addition, in many cases, abnormal laboratory findings may include a decrease in white
blood cells (leukopenia) and/or an abnormal increase in the level of certain liver enzymes (hepatic transaminases). Sennetsu Fever is caused by the bacterium Ehrlichia
sennetsu. The vector (or carrier) for this bacterium has not yet been determined; however, some researchers believe that infection may result from the ingestion of raw
fish.
Septo Optic Dysplasia (De Morsier Syndrome) : a rare disorder that may be apparent in early infancy, during childhood, or, in some cases, as late as
adolescence. The disorder is characterized by abnormal development (dysplasia) of certain structures (the optic disk, pituitary deficiencies, and often agenesis (absence)
of the septum pellucidum (the part of the brain that separates the anterior horns or the lateral ventricles of the brain) within the central portion (midline) of the brain,
affecting structures of the eyes; the hypothalamus, an area of the brain that plays a role in coordinating hormone function (i.e., endocrine system); and/or other portions
of the brain. Resulting characteristic findings may include underdevelopment (hypoplasia) of the optic nerves, the pair of nerves (second cranial nerves) that transmit
impulses from the nerve-rich membranes lining the eyes (retina) to the brain; absence (agenesis) of a certain membrane in the brain (septum pellucidum); and
diminished activity of the pituitary gland, the hormone-producing gland at the base of the brain, due to improper function of the hypothalamus (hypothalamic
hypopituitarism). Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the
eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems. Seizures may also occur. In a few cases, jaundice (prolonged
yellow skin discoloration) may occur at birth. Intellectual problems vary in severity among individuals. While some children with SOD have normal intelligence, others
have learning disabilities and mental retardation. Most, however, are developmentally delayed due to vision impairment or neurological problems.As a result of such
abnormalities, affected individuals may experience partial or complete blindness or mild to severe visual impairment; delays in the acquisition of skills that require the
coordination of mental and muscular activity (psychomotor retardation); deficiencies of certain hormones resulting in growth retardation, short stature, and/or other
symptoms; and/or, in some cases, additional abnormalities. Although some children with the disorder have normal intelligence, most may exhibit dimished intellectual
capabilities ranging from learning disabilities to mental retardation. The cause of Septo-Optic Dysplasia is not fully understood. Most cases are thought to occur
randomly for unknown reasons (sporadic).
Treatment for SOD is symptomatic. Hormone deficiencies may be treated with hormone replacement therapy. The optical problems associated with SOD are generally
not treatable. Vision, physical, and occupational therapies may be required.
Lau, K, et. al. Septo-Optic Dysplasia. American Journal of Diseases of Children, 147; 71-72 (January 1993).
Thoene, J. (ed). Physicians' Guide to Rare Diseases. Dowden Publishing Co., Inc., Montvale, NJ, p. 123 (1992).
Williams, J, et. al. Septo-Optic Dysplasia: The Clinical Insignificance of an Absent Septum Pellucidum. Developmental Medicine and Child. Neurology, 35; 490-501
(1993).
Setleis Syndrome : an extremely rare inherited disorder that belongs to a group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the
hair, teeth, nails, and/or skin. Setleis syndrome is characterized by distinctive abnormalities of the facial area that may be apparent at birth (congenital). Most affected
infants have multiple, scar-like, circular depressions on both temples (bitemporal). These marks closely resemble those made when forceps are used to assist delivery.
In addition, affected infants may have puffy, wrinkled skin around the eyes (periorbital) and/or abnormalities of the eyelashes, eyebrows, and eyelids. Infants with Setleis
syndrome may be missing eyelashes on both the upper and lower lids, or they may have multiple rows of lashes on the upper lids but none on the lower lids. In addition,
in some cases, the bridge of the nose may appear flat, while the tip may appear unusually rounded (bulbous). Affected infants often have loose, excessive (redundant)
skin, particularly in the area of the nose and the chin. Due to such facial abnormalities, infants with Setleis syndrome may have an aged and/or "leonine" (lion-like)
appearance. The range and severity of symptoms may vary from case to case. Most cases of Setleis syndrome are thought to be inherited as an autosomal recessive
genetic trait.
Severe Combined Immunodeficiency : (SCID) is a group of rare congenital syndromes characterized by little if any immune responses. This results in frequent
recurring infections. Cellular immune responses involve specialized white blood cells known as T lymphocytes or "killer cells." These cells assist other white blood cells
(B lymphocytes) to respond to infectious, foreign agents that invade the body (i.e., bacteria or viruses). The B lymphocytes maintain immunity by enabling the body to
produce and preserve circulating antibodies. People with Severe Combined Immunodeficiency are unusually susceptible to recurrent infections with bacteria, viruses,
fungi, and other infectious agents that can be life-threatening. There are several types of Severe Combined Immunodeficiencies. These include: Autosomal Recessive
Severe Combined Immunodeficiency, X-Linked Recessive Severe Combined Immunodeficiency, Adenosine Deaminase Deficiency (ADA), Bare Lymphocyte Syndrome,
Severe Combined Immunodeficiency with Leukopenia (Reticular Dysgenesis), and Swiss-type Agammaglobulinemia. Each type of Severe Combined Immune Deficiency
is caused by a different genetic defect, but the primary symptom is reduced or absent immune functions, and all types are hereditary.
Shaken baby syndrome : a severe form of head injury that occurs when a baby is shaken forcibly enough to cause the baby's brain to rebound (bounce) against his or
her skull. This rebounding may cause bruising, swelling, and bleeding (intracerebral hemorrhage) of the brain, which may lead to permanent, severe brain damage or
death. The condition is usually the result of non-accidental trauma or child abuse. In rare instances it may be caused by tossing a baby in the air or jogging with a baby
in a backpack. Symptoms may include changes in behavior, irritability, lethargy, loss of consciousness, pale or bluish skin, vomiting, and convulsions. Although there
usually are no outward physical signs of trauma, there may be broken, injured, or dislocated bones and injuries to the neck and spine.
Immediate emergency treatment is necessary and usually includes life-sustaining measures such as stopping internal bleeding and relieving increased intracranial
pressure.
Spaide, R, et. al. Shaken Baby Syndrome. American Family Physician, 41:4; 1145-1152 (April 1990).
Joynt, R (ed). Clinical Neurology. vol. 3, Chapter 30, J.B. Lippincott Co., Philadelphia, p. 62 (1990).
Frank, Y, et. al. Neurological Manifestations in Abused Children Who Have Been Shaken. Developmental Medicine and Child Neurology, 27; 312-316 (1985).
Sheehan Syndrome : caused by abnormal diminishment or cessation of pituitary gland functioning (hypopituitarism). The disorder affects females and is caused by
necrosis (death of cells) of the anterior pituitary gland secondary to profound blood loss during and after childbirth, with vascular collapse and shock (postpartum
collapse).
Shingles ( Postherpetic Neuralgia, Herpes Zoster ): an infection caused by the varicella-zoster virus, which is the virus that causes chickenpox. Shingles
occurs in people who have had chickenpox and represents a reactivation of the dormant varicella-zoster virus. The disease generally affects the elderly, although it
occasionally occurs in younger and/or immunodeficient individuals. The first sign is usually a tingling feeling, itchiness, or stabbing pain on the skin. After a few days, a
rash appears as a band or patch of raised dots on the side of the trunk or face. The rash develops into small, fluid-filled blisters which begin to dry out and crust over
within several days. When the rash is at its peak, symptoms can range from mild itching to extreme and intense pain. Contact with a person with shingles may cause
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 chickenpox (but not shingles) in someone who has never had chickenpox before.
Treatment for shingles includes antiviral drugs, steroids, antidepressants, anticonvulsants, and topical agents. The severity and duration of an attack of shingles can be
significantly reduced by immediate treatment with the antiviral drugs acyclovir, valacyclovir or famcyclovir. These drugs may also help stave off the painful aftereffects of
shingles known as postherpetic neuralgia.
Flieger, K. Shingles -- Or Chickenpox, Part Two FDA Consumer, Food and Drug Administration, Rockville, MD (July-August 1991)
Kost, R, and Straus, S. Postherpetic Neuralgia --- Pathogenesis, Treatment, and Prevention New England Journal of Medicine, 335:1; 32-42 (July 4, 1996)
Loeser, J. Herpes Zoster and Postherpetic Neuralgia In The Management of Pain, vol. 1, 2nd edition, Lea & Febiger, Philadelphia, pp. 257-263 (1990)
Rockley, P, and Tyring, S. Pathophysiology and Clinical Manifestations of Varicella Zoster Virus Infections International Journal of Dermatology, 33:4; 227-232 (April
1994)
Schultz, D. That Spring Fever May Be Chickenpox FDA Consumer, Food and Drug Administration, Rockville, MD, pp. 15-17 (March 1993)
The Message is Clear: Antiherpetics Do Prevent Neuralgia Modern Medicine, 63; 8 (January 1995)
Whitley, R, et al. Acyclovir With and Without Prednisone for the Treatment of Herpes Zoster Annals of Internal Medicine, 125:5; 376-383 (Sept. 1, 1996)
Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD) : an extremely rare inherited disorder of fat metabolism belonging to a group of diseases known
as organic acidemias. Excessive amounts of acids and ammonia accumulate in the blood and body tissues due to a deficiency of an enzyme known as Short-Chain CoA
Dehydrogenase. This enzyme is needed to break down fatty acids in the blood. There are two distinct types of Short-Chain Acyl-CoA Dehydrogenase Deficiency. The
more severe generalized form is present at birth (congenital) and characterized by progressive muscle weakness (hypotonia) and the accumulation of acidic waste
product in the blood (organic acidemia). The symptoms in infants associated with organic acidemia may include poor feeding, frequent vomiting, and/or lethargy.
Congenital Short-Chain Acyl-CoA Dehydrogenase Deficiency may lead to life-threatening complications. The milder adult onset form of this disorder affects the skeletal
muscles and is characterized by muscle weakness.
SHORT Syndrome : a very rare disorder thought to be inherited as an autosomal recessive trait. Individuals affected with this disorder are usually born with a low birth
weight. Short stature, and a congenital condition in which there is a loss of fat under the skin (lipoatrophy) of the arms and face are almost always apparent. Other
distinguishing symptoms of SHORT Syndrome are defective development of the anterior chamber of the eye (Rieger Anomaly) and a delay in teething and speech.
Shwachman Syndrome : an extremely rare inherited disorder with multiple and varied manifestations. In most cases, the disorder may be characterized by signs of
insufficient absorption (malabsorption) of fats and other nutrients due to abnormal development of the pancreas (pancreatic insufficiency); abnormal bone development
affecting the rib cage and/or bones in the arms and/or legs (metaphyseal dysostosis); short stature; and/or improper functioning of the bone marrow (bone marrow
dysfunction), resulting in low levels of circulating blood cells (hematologic abnormalities). Due to improper bone changes, individuals with Shwachman Syndrome may
exhibit abnormal thickening of the ribs and their supporting connective tissue (costochondral thickening), resulting in abnormally short, flared ribs. In addition, improper
bone development (abnormal ossification) within the arms and/or legs (limbs) may cause growth delay in particular bones. Children with Shwachman Syndrome may
also be smaller than expected for their ages, with below average height (short stature) and weight. Although malabsorption due to pancreatic insufficiency may itself
cause problems with growth and nutrition, short stature appears to be one of the many primary manifestations of Shwachman Syndrome. In addition, as a result of
bone marrow dysfunction, individuals with Shwachman Syndrome may exhibit a decrease in any or all types of blood cells. Therefore, they may have low levels of
certain white blood cells (neutropenia), platelets (thrombocytopenia), red blood cells (anemia), and/or all types of blood cells (pancytopenia). Neutropenia is the most
common blood abnormality associated with Shwachman Syndrome. Because neutrophils, a type of white blood cell, play an essential role in fighting bacterial infections,
many affected individuals are prone to repeated bacterial infections (e.g., recurrent respiratory infections [pneumonia] and infections of the middle ear [otitis media]); in
some cases, infections may be severe. In some cases, affected individuals may also exhibit additional physical and/or developmental abnormalities. Shwachman
Syndrome is believed to be inherited as an autosomal recessive genetic trait.
Shy Drager Syndrome : also known as multiple system atrophy, is a rare neurodegenerative disorder characterized by progressive failure of the autonomic
nervous system, affecting movement, blood pressure regulation and other functions of the body. The autonomic nervous system is the branch of the nervous system that
is responsible for a variety of vital involuntary body functions, such as heart rate, blood pressure, sweating, and bowel and bladder control. Symptoms of Shy-Drager
syndrome include unusually low blood pressure upon standing (orthostatic hypotension), loss of bladder and bowel control, and lack of sweating (anhidrosis). The exact
cause of Shy-Drager syndrome is not known. Symptoms develop due to the degeneration of certain groups of nerve cells in the spinal column. Progressive neurological
degeneration may also occur in other areas of the nervous system and may produce symptoms that are frequently confused with other disorders, especially Parkinson's
Disease. The course of Shy-Drager syndrome is variable. There are 3 types of Shy-Drager syndrome: Parkinsonian-type which may include symptoms of Parkinson's
disease such as slow movement, stiff muscles, and mild tremors; cerebellar-type which may include problems such as loss of balance and the tendency to fall; and
combination-type which may include symptoms of both types 1 and 2. Parkinsonian symptoms and symptoms of autonomic dysfunction such as constipation and sexual
impotence in males predominate early in the course of the disease. Constipation may be unrelenting and hard to manage in some patients. Shy-Drager may be difficult
to diagnose or underdiagnosed in the early stages because it may take years for some key symptoms to reveal themselves. For the majority of patients, blood pressure
is unstable--often fluctuating up and down--and causes severe headaches. Other symptoms may also develop, such as generalized weakness, double vision and/or
other vision disturbances, impairment of speech, sensory changes, difficulties with breathing and swallowing, irregularities in heart beat, inability to sweat, and diarrhea.
Shy-Drager is often difficult to treat because of the fluctuations in blood pressure. The general treatment course is aimed at controlling symptoms. Anti-Parkinson
medication, such as L-dopa, may be helpful but should be used with caution because it can lower blood pressure, causing blackouts. To relieve low blood pressure,
dietary increases of salt and fluid may be beneficial. Medications to elevate blood pressure such as corticosteroids may cause side effects and should be carefully
monitored by a physician. Alpha-adrenergic medications, metoclopramide, ergotamine derivatives, and indomethacin are useful in many cases. Sleeping in a head-up
position at night may reduce headaches and morning dizziness. An artificial feeding tube or breathing tube may be surgically inserted for management of swallowing and
breathing difficulties. In rare cases, a pacemaker may be implanted to correct heart irregularities.
Litvan, I, et al. What is the accuracy of the clinical diagnosis of multiple system atrophy? Archives of Neurology, 54; 937-944 (August 1997).
Nee, L, Gomez, M, Dambrosia, J, Bale, S, Eldridge, R, and Polinsky, R. Environmental-occupational Risk Factors and Familial Associations in Multiple System
Atrophy: A Preliminary Investigation. Clinical Autonomic Research, 1; 9-13 (1991).
Polinsky, R. Multiple System Atrophy: Clinical Aspects, Pathophysiology, and Treatment. Neurologic Clinics, 2:3; 487-498 (August 1984).
Sialadenitis 唾液腺炎: a condition characterized by inflammation and enlargement of the salivary glands, the three pairs of glands that secrete saliva into the mouth.
Sialadenitis is often associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. The exact cause of Sialadenitis is not known.
Sialidosis 唾液酸沉著症: a very rare inherited metabolic disorder characterized by a deficiency of the enzyme alpha-neuraminidase. This disorder belongs to a group
of diseases known as lysosomal disorders. Lysosomes are particles bound in membranes within cells that break down certain fats and carbohydrates. The deficiency of
alpha-neuraminidase that characterizes Sialidosis leads to the abnormal accumulation of certain complex carbohydrates (mucopolysaccharides) and certain fatty
substances (mucolipids) in many tissues of the body. Previously known as Mucolipidosis I, Sialidosis belongs to a subgroup of lysosomal diseases known as
Mucolipidoses. The symptoms of Sialidosis Type I, which typically begin during the 2nd decade of life, may include sudden involuntary muscle contractions (myoclonus),
the appearance of red spots (cherry-red macules) in the eyes, and/or other neurological findings. Sialidosis Type II may begin during infancy or later. It is characterized
by the same visual characteristics as Sialidosis Type I, as well as other symptoms such as mildly coarse facial features, skeletal malformations, and/or mild mental
retardation. Sialidosis is inherited as an autosomal recessive genetic trait.
Sickle Cell Disease 鎌狀紅血球症 are inherited blood disorder. It is characterized by the presence of sickle or crescent shaped red blood cells (erythrocytes) in the
bloodstream. These abnormally shaped cells become rigid and lodge themselves in the very tiny blood vessels (capillaries) of the peripheral blood system (blood vessels
outside of the heart). The capillaries become clogged, preventing the normal flow of oxygen to tissues. Sickle Cell Disease has several recognized forms including Sickle
Cell Anemia, Sickle Cell Hemoglobin C Disease and Sickle Cell Thalassemia Disease.
Simian B Virus Infection : caused by a type of herpesvirus. It is an infectious disorder contracted chiefly by laboratory workers exposed to infected monkeys and/or
simian tissue cultures. It is characterized by a viral invasion of the brain (Encephalitis) and the membranes (meninges) surrounding the brain. Occasionally, the infection
affects the spinal cord structures as well (Encephalomyelitis). Neurological damage may result from this infection. Without treatment, some cases of Simian B Virus may
be life- threatening.
Simpson Dysmorphia Syndrome : a rare X-linked recessive inherited disorder. Major symptoms and physical findings may include abnormally increased growth
before and after birth (prenatally and postnatally); a broad, stocky appearance; a large protruding jaw; a short, broad nose; incomplete closure of the roof of the mouth
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 (cleft palate); and broad, short hands and fingers. Individuals usually reach an above-average height. The general distinguishing features typically become less apparent
in adulthood.
Singleton Merten Syndrome : an extremely rare disorder characterized by abnormalities of the teeth (dental dysplasia), accumulation of calcium deposits
(calcifications) in the major artery of the body (aorta) and certain valves of the heart (i.e., aortic and mitral valves), and/or progressive thinning and loss of protein of the
bones (osteoporosis). Dental abnormalities may include malformed (dysplastic) teeth and/or premature loss of primary (deciduous) teeth. Abnormal accumulations of
calcium deposits in the aorta may lead to narrowing (stenosis) of the aorta, resulting in life-threatening complications (e.g., heart block, heart failure, etc.). Other physical
findings associated with Singleton-Merten Syndrome may include generalized muscle weakness; progressive loss or wasting away of muscle tissue (atrophy); growth
retardation, possibly resulting in short stature; delays in motor development; a skin condition characterized by thickened patches of red, scaly skin, particularly on the
fingers; and/or malformation of the hips and/or feet. Singleton-Merten Syndrome appears to occur randomly for no apparent reason (sporadic).
Sirenomelia Sequence 併肢畸胎 : a birth defect in which affected infants are born with a single lower extremity or with two legs that are fused together. Due to the
wide range of possible physical deformities that may occur, the symptoms and physical findings associated with Sirenomelia Sequence vary greatly from case to case.
Sjogren Syndrome 謝格連氏徵候群( 乾症角膜結合膜炎) : an autoimmune disorder characterized by degeneration of the mucus-secreting glands,
particularly the tear ducts of the eyes (lacrimal) and saliva glands of the mouth. Autoimmune disorders are caused when the body's natural defenses (antibodies,
lymphocytes, etc.) against invading organisms suddenly begin to attack healthy tissue. Sjogren Syndrome is also associated with inflammatory disorders such as
rheumatoid arthritis or Lupus. The hallmark symptoms of the disorder are dry mouth and dry eyes. In addition, Sjogren's syndrome may cause skin, nose, and vaginal
dryness, and may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain.
There is no known cure for Sjogren's syndrome nor is there a specific treatment to restore gland secretion. Treatment is generally symptomatic and supportive. Moisture
replacement therapies may ease the symptoms of dryness. Nonsteroidal anti-inflammatory drugs may be used to treat musculoskeletal symptoms. For individuals with
severe complications, corticosteroids or immunosuppressive drugs may be prescribed.
Joynt, R (ed) Clinical Neurology vol. 4, Chapter 59, J.B. Lippincott Co., Philadelphia, pp. 115-119 (1990)
Kruize, A, et al. Diagnostic Criteria and Immunopathogenesis of Sjogren's Syndrome: Implications for Therapy Immunology Today, 16:12; 557-559 (December 1995)
Kruize, A, et al. Neuro-Musculo-Skeletal Manifestations in Primary Sjogren's Syndrome Netherlands Journal of Medicine, 40; 135-139 (1992)
Rothschild, B. Sjogren's Syndrome Comprehensive Therapy, 22:1; 39-43 (January 1996)
Sly Syndrome (Mucopolysaccharidosis Type VII [MPS VII]) 史萊氏症( 黏多醣症第七型 ): an extremely rare inherited metabolic disorder
characterized by a deficiency of the enzyme beta-glucuronidase, a lysosomal enzyme. Sly Syndrome belongs to a group of disorders known as the
Mucopolysaccharidoses, which are lysosomal storage diseases. Lysosomes are particles bound in membranes within cells that break down certain fats and
carbohydrates. In Sly Syndrome, the deficiency of beta-glucuronidase leads to the accumulation of certain complex carbohydrates (mucopolysaccharides) in many
tissues and organs of the body. Excessive levels of dermatan and keratan sulfate are also present in the urine of people with this disorder. The symptoms of Sly
Syndrome are similar to those of Hurler Syndrome (MPS I) and the other Mucopolysaccharidoses. Symptoms may include mental retardation, short stature with an
unusually short trunk, and/or abnormalities of the intestines, corneas of the eyes, and/or the skeletal system. Sly Syndrome is inherited as an autosomal recessive
genetic trait.
Smith Lemli Opitz Syndrome : a hereditary developmental disorder. It is characterized by nostrils that tilt forward (anteverted nares), drooping eyelids, webbing
between the second and third toes, male genital abnormalities, mental retardation, and small stature.
Smith Magenis Syndrome : a rare chromosomal disorder characterized by abnormalities of the head and facial (craniofacial) area, delays in the acquisition of skills
requiring the coordination of mental and muscular activities (psychomotor retardation), mental retardation, speech delays, and/or behavioral abnormalities. Characteristic
craniofacial abnormalities may include an abnormally short, broad head (brachycephaly); an abnormally broad, flat midface; a broad nasal bridge; an unusually
prominent jaw (prognathism); incomplete closure of the roof of the mouth (cleft palate); and/or malformed, abnormally positioned ears. In addition, most affected
individuals experience speech delays that may occur in association with hearing impairment and have an abnormally hoarse, deep voice. Behavioral abnormalities
associated with the disorder may include hyperactivity and self-destructive behavior including head-banging, wrist-biting, inserting foreign objects into the nose and ears
(polyembolokoilamania), and/or pulling out the fingernails and toenails (onychotillomania). Many individuals with Smith-Magenis Syndrome also experience sleep
disturbances including difficulties falling asleep and staying asleep. Smith-Magenis Syndrome occurs due to deletion of a portion of the short arm (p) of chromosome 17
(17p11.2). The chromosomal deletion occurs due to a spontaneous (de novo) genetic change (mutation) that occurs for unknown reasons (sporadic).
Sneddon Syndrome : a rare progressive disorder of the blood vessels that may be inherited as an autosomal dominant trait. Characteristics include multiple episodes of
reduced blood flow to the brain (cerebral ischemia) and bluish net-like patterns of discoloration on the skin surrounding normal- appearing skin (livedo reticularis). Major
symptoms may include headache, dizziness, abnormally high blood pressure (hypertension), heart disease, mini-strokes, and/or stroke. Lesions (infarcts) may develop
within the central nervous system as a result of reduced blood flow to the brain and may cause reduced mental capacity, memory loss, and/or other neurological
symptoms.
Sotos Syndrome : a rare genetic disorder characterized by excessive growth that occurs prior to and after birth (prenatally and postnatally). At birth, affected infants have
unusually increased body length that is abnormal in proportion to weight, which may also be above average; in addition, newborns typically demonstrate advanced bone
growth, abnormally large hands and/or feet, and characteristic facial features. Abnormally rapid growth continues after birth until approximately four or five years of age,
at which time growth may slow to a normal rate. Adult height usually exceeds the 50th percentile. Some affected individuals may reach excessive adult heights; males of
193 cm to 203 cm (6 feet 4 inches to 6 feet 8 inches) and females up to 188 cm (6 feet 2 inches) have been described. Affected infants and children may also
demonstrate developmental abnormalities including delays in reaching developmental milestones (e.g., sitting, crawling, walking); delays in the acquisition of skills
requiring the coordination of muscular and mental activity (psychomotor retardation); delayed language skills; and mild to severe mental retardation. Characteristic facial
abnormalities may include an unusually large head (macrocephaly) that may appear elongated (dolichocephalic) with an abnormally prominent forehead (frontal bossing);
widely-spaced eyes (ocular hypertelorism); downwardly slanting eyelid folds (palpebral fissures); a highly-arched roof of the mouth (palate); protrusion of the lower jaw
(prognathism); and/or a pointed chin. Most cases of Sotos Syndrome occur randomly (sporadically), probably as a new genetic mutation. In rare cases, however, when a
positive family history is found, the disorder may be inherited as an autosomal dominant genetic trait.
There is no standard course of treatment for Soto's syndrome. Treatment is symptomatic.
Spasticity : a condition in which certain muscles are continuously contracted. This contraction causes stiffness or tightness of the muscles and may interfere with gait,
movement, and speech. Spasticity is usually caused by damage to the portion of the brain or spinal cord that controls voluntary movement. It may occur in association
with spinal cord injury, multiple sclerosis, cerebral palsy, anoxic brain damage, brain trauma, severe head injury, some metabolic diseases such as adrenoleukodystrophy,
and phenylketonuria. Symptoms may include hypertonicity (increased muscle tone), clonus (a series of rapid muscle contractions), exaggerated deep tendon reflexes,
muscle spasms, scissoring (involuntary crossing of the legs), and fixed joints. The degree of spasticity varies from mild muscle stiffness to severe, painful, and
uncontrollable muscle spasms. The condition can interfere with rehabilitation in patients with certain disorders, and often interferes with daily activities.
Treatment may include such medications as baclofen, diazepam, or clonazepam; muscle stretching, range of motion exercises, and other physical therapy regimens to
help prevent joint contractures (shrinkage or shortening of a muscle) and reduce the severity of symptoms; or surgery for tendon release or to sever the nerve-muscle
pathway.
Alonso, R, and Mancall, E. The Clinical Management of Spasticity Seminars in Neurology, 11:3; 215-219 (September 1991)
George, C. Spasticity Mechanisms and Nursing Care Nursing Clinics of North America,? 28:4; 819-827 (December 1993)
Goodman, C, and Hill, K. Managing Spasticity Paraplegia News, Paralyzed Veterans of America, Washington, DC, pp. 24-27 (February 1992)
Penn, R. Medical and Surgical Treatment of Spasticity Neurosurgery Clinics of North America, 1:3; 719-727 (July 1990)
Spasmodic Torticollis 痙攣性斜頸 : also known as cervical dystonia, is a form of dystonia characterized by intermittent spasms of the neck muscles resulting in
involuntary rotation and tilting of the head. These movements are frequently painful. There are three different varieties of the disorder: tonic, causing sustained turning of
the head to one side; clonic, causing shaking movements of the head; and mixed tonic and clonic, involving both kinds of movements. The exact cause of this disorder is
usually unknown, and it tends to appear in adults.
Spina Bifida 脊柱裂 : a neural tube defect (a disorder involving incomplete development of the brain, spinal cord, and/or their protective coverings) caused by the
failure of the fetus's spine to close properly during the first month of pregnancy. Infants born with SB sometimes have an open lesion on their spine where significant

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 damage to the nerves and spinal cord has occurred. Although the spinal opening can be surgically repaired shortly after birth, the nerve damage is permanent, resulting
in varying degrees of paralysis of the lower limbs. Even when there is no lesion present there may be improperly formed or missing vertebrae and accompanying nerve
damage. In addition to physical and mobility difficulties, most individuals have some form of learning disability. The three most common types of SB are:
myelomeningocele, the severest form, in which the spinal cord and its protective covering (the meninges) protrude from an opening in the spine; meningocele in which
the spinal cord develops normally but the meninges protrude from a spinal opening; and occulta, the mildest form, in which one or more vertebrae are malformed and
covered by a layer of skin. SB may also cause bowel and bladder complications, and many children with SB have hydrocephalus (excessive accumulation of
cerebrospinal fluid in the brain).
There is no cure for SB because the nerve tissue cannot be replaced or repaired. Treatment for the variety of effects of SB may include surgery, medication, and
physiotherapy. Many individuals with SB will need assistive devices such as braces, crutches, or wheelchairs. Ongoing therapy, medical care, and/or surgical treatments
may be necessary to prevent and manage complications throughout the individual's life. Surgery to close the newborn's spinal opening is generally performed within 24
hours after birth to minimize the risk of infection and to preserve existing function in the spinal cord.
Blum, R, et. al. Family and Peer Issues Among Adolescents with Spina Bifida and Cerebral Palsy. Pediatrics, 88:2; 280-285 (August 1991).
Hobbins, J. Diagnosis and Management of Neural Tube Defects Today. The New England Journal of Medicine, 324:10; 690-691 March 7, 1991).
Alexander, M, and Steg, M. Myelomeningocele: Comprehensive Treatment. Archives of Physical and Medical Rehabilitation, 10; 637-641 (August 1989).
Brain and spinal cord tumors : are abnormal growths of tissue found inside the skull or the bony spinal column, which are the primary components of the central
nervous system (CNS). Benign tumors are noncancerous, and malignant tumors are cancerous. The CNS is housed within rigid, bony quarters (i.e., the skull and spinal
column), so any abnormal growth, whether benign or malignant, can place pressure on sensitive tissues and impair function. Tumors that originate in the brain or spinal
cord are called primary tumors. Most primary tumors are caused by out-of-control growth among cells that surround and support neurons. In a small number of
individuals, primary tumors may result from specific genetic disease (e.g., neurofibromatosis, tuberous sclerosis) or from exposure to radiation or cancer-causing
chemicals. The cause of most primary tumors remains a mystery. They are not contagious and, at this time, not preventable. Symptoms of brain tumors include
headaches, seizures, nausea and vomiting, vision or hearing problems, behavioral and cognitive problems, motor problems, and balance problems. Spinal cord tumor
symptoms include pain, sensory changes, and motor problems. The first test to diagnose brain and spinal column tumors is a neurological examination. Special imaging
techniques (computed tomography, and magnetic resonance imaging, positron emission tomography) are also employed. Laboratory tests include the EEG and the
spinal tap. A biopsy, a surgical procedure in which a sample of tissue is taken from a suspected tumor, helps doctors diagnose the type of tumor.
The three most commonly used treatments are surgery, radiation, and chemotherapy. Doctors also may prescribe steroids to reduce the swelling inside the CNS.
Split Hand Deformity : a genetic disorder characterized by the absence of fingers or parts of fingers, commonly occurring with a cleft of the hand. This combination often
gives the hand a clawlike appearance. When a cleft does occur, it usually affects both hands and both feet. There are many types and combinations of deformities that
appear in Split-hand deformity. It is believed that they are all the result of a common genetic defect that ranges widely in severity.
Spondyloepiphyseal Dysplasia Tarda : a rare hereditary disorder and affects males more frequently than females. Physical characteristics may include multiple
skeletal abnormalities including dwarfism, spinal deformities, and an unusually short trunk.
Spondyloepiphyseal Dysplasia, Congenital : a rare inherited disorder characterized by growth deficiency before birth (prenatally), spinal malformations, and/or
abnormalities of the eyes. As affected individuals age, growth deficiency eventually results in short stature (dwarfism) due, in part, to a disproportionately short neck and
trunk, and a hip deformity in which the thigh bone is angled toward the center of the body (coxa vara). In most cases, affected individuals may have diminished muscle
tone (hypotonia), abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis), abnormal inward curvature of the spine (lumbar lordosis), and/or
unusual protrusion of the breast bone (sternum) (pectus carinatum). Affected individuals also have abnormalities affecting the eyes including nearsightedness (myopia)
and, in approximately 50 percent of cases, detachment of the nerve-rich membrane lining the eye (retina). Congenital Spondyloepiphyseal Dysplasia is inherited as an
autosomal dominant genetic trait.
Sprengel Deformity : a rare congenital disorder in which the shoulder blade is displaced upward. The elevated shoulder blade causes a lump in the back of the base of
the neck and may limit movement of the arm on the affected side. This disorder typically appears at birth for no apparent reason although there have been cases in
which the disorder was inherited as an autosomal dominant trait. Other skeletal and muscular abnormalities have been found in association with Sprengel Deformity.
Stein Levanthal Syndrome : a rare disorder that affects females, is characterized by the presence of multiple cysts on the ovaries (polycystic ovaries), the absence of
menstruation (amenorrhea) or irregular and abnormal menstruation, excessive amounts of body hair (hirsutism), excessive body weight (obesity), and infertility. In many
cases, the disorder may be inherited as a dominant genetic trait.
Stenosis, Spinal : a rare condition characterized by abnormal narrowing (stenosis) of the spaces within the spinal canal, spinal nerve root canals, or the bones of the
spinal column (vertebrae). Affected individuals may experience pain in the lower back and/or the legs. In some cases, affected individuals may have difficulty walking.
Spinal stenosis may occur as a result of spinal injury, surgery, abnormal bone growth, or deterioration. In some cases, spinal stenosis may be inherited as an autosomal
dominant genetic trait.
Stevens Johnson Syndrome : a rare disorder characterized by inflammation of the mucous membranes of the mouth, throat, anogenital region, intestinal tract and
membrane lining the eyelids (conjunctiva). Affected individuals may have abnormalities (lesions) of the skin and mucous membranes that are purplish or red in color. The
abnormalities may be flat (macules) or small and raised (papules). In some cases, the lesions may develop raised fluid-filled centers (bullae or blisters). Affected
individuals may also have blisters and/or bleeding in the mucous membranes of the lips, eyes, mouth, nasal passage, and genitals. In addition, abnormalities of the eyes
may develop as a result of the lesions caused by Stevens-Johnson Syndrome (ocular sequelae). Such abnormalities may include infection of the delicate membrane of
the eye and eyelids (conjunctiva) and inflammation associated with an abnormal discharge from the conjunctiva (purulent conjunctivitis). Some researchers believe that
Stevens-Johnson Syndrome is a severe form of Erythema Multiforme, an inflammatory disorder of the skin and mucous membranes (mucocutaneous) that is triggered
by an allergic reaction. Other researchers believe that Stevens-Johnson Syndrome is an independent syndrome. It is uncertain exactly what causes the allergic reaction,
but researchers think it may be triggered by an allergic reaction to certain drugs such as antibiotics, including sulfonamides, tetracyclines, amoxicillin, and ampicillin. In
some cases, nonsteroidal anti-inflammatory medications and anticonvulsants, such as Tegretol and phenobarbitals, have also been implicated. In some cases, it is also
possible that the disorder may be triggered by an infection.
Stickler Syndrome : a genetic disorder inherited as a dominant trait. This disorder is characterized by congenital abnormalities of the eye, a small jaw, and a cleft palate.
Degenerative changes in some joints with bone abnormalities may occur early in life.
Stiff Person Syndrome : an extremely rare progressive neurological disorder characterized by persistent stiffness (rigidity) and spasms of certain voluntary muscles,
especially those of the legs and the feet. In some cases, muscles of the neck, trunk, and shoulders may also be involved. Stiff-person syndrome may begin as recurring
(intermittent) episodes of stiffness and spasms, often precipitated by surprise or minor physical contact. Symptoms may occur gradually, spreading from the back and
legs to involve the arms and neck. Symptoms may worsen when the affected individual is anxious or exposed to sudden motion or noise. Affected muscles may become
twisted and contracted, resulting in bone fractures in the most severe cases. Individuals with stiff-person syndrome may have difficulty making sudden movements and
may have a stiff-legged, unsteady gait. Sleep usually suppresses frequency of contractions. Stiffness may increase and patients may develop a hunched posture
(kyphosis) or a swayback (lordosis). Researchers theorize that stiff-person syndrome may be an autoimmune disorder. Other autoimmune disorders such as diabetes,
pernicious anemia (a chronic, progressive blood disorder), and thyroiditis (inflammation of the thyroid gland) may occur more frequently in patients with stiff-person
syndrome.
The drug diazepam, which relaxes the muscles, provides improvement in most cases. Baclofen, phenytoin, clonidine, or tizanidine may provide additional benefit.
Physical and rehabilitation therapy may also be needed.
Barker, R, and Marsden C. Successful Treatment of Stiff Man Syndrome with Intravenous Immunoglobulin. Journal of Neurology, Neurosurgery, and Neuropsychiatry,
62; 426 (1997)
Bradley, W, et al (eds). Neurology in Clinical Practice: Principles of Diagnosis and Management, vol. II Butterworth-Heinemann, Boston, p. 367(1991)
Levy, L., Floeter, MK, and Dalakas, M. Stiff-person syndrome -- an autoimmune disorder affecting gamma-aminobutyric acid (GABA) neurotransmission. Annals of
Internal Medicine 131; 522-530 (1999)
McEvoy, K. Stiff-man Syndrome. Mayo Clinic Proceedings, 66; 300-304 (1991)
McEvoy, K. Stiff-man Syndrome. Seminars in Neurology, 11:3; 197-204 (September 1991)
Spada, P, and Spada, J. Stiff-man Syndrome: A Rare Disorder of the Central Nervous System. Journal of Neuroscience Nursing, 26:6; 364-366 (December 1994)

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 Thoene, J (ed). Physicians' Guide to Rare Diseases Dowden Publishing Company, Inc., Montvale, NJ, p. 441 (1992)
Wyngaarden, J, et al (eds). Cecil Textbook of Medicine, 19th edition W.B. Saunders Co., Philadelphia, p. 2264 (1992)
Streptococcus, Group B : a bacterial infection in which groups of streptococcus bacteria reproduce and multiply (colonize) in the mucous membranes. This bacteria is
found most often in the vagina and rectum of females. Group B Streptococci can be transmitted sexually, as well as to a fetus as the infant passes through the birth
canal. The main groups at risk of developing disease from GBS are newborn children of an infected mother, women after childbirth, females after gynecologic surgery
and older male and female patients with other serious diseases.
Sturge Weber Syndrome (also called encephalotrigeminal angiomatosis) : a congenital disorder characterized by a vascular birthmark and
neurological abnormalities. Symptoms of the disorder, which vary widely among patients, may include eye and internal organ irregularities. The most apparent symptom
is a facial birthmark or port wine stain which is present at birth and usually involves at least one upper eyelid and the forehead. The stain, varying from light pink to deep
purple, is caused by an overabundance of capillaries just beneath the surface of the affected skin. Neurological symptoms include excessive blood vessel growth on the
surface of the brain (angiomas). These angiomas are typically located on the posterior or occipital region of the brain and cause seizures, which often start before one
year of age and may worsen with age. The convulsions usually appear on the side of the body opposite the port wine stain and vary in severity. A weakening or loss of
use of the side of the body opposite the port wine stain (hemiparesis) may also develop. Developmental delay of motor and cognitive skills may occur. Glaucoma
(increased pressure within the eye) may be present at birth or develop later. Buphthalmos (enlargement of the coatings of the eye) may also occur in the eye that is
affected by the port wine stain. Sturge-Weber syndrome rarely affects other body organs.
Treatment for Sturge-Weber syndrome is symptomatic. Laser treatment is available to lighten and/or remove port wine stains. Anticonvulsant medications may be used to
control seizures. Surgery and/or eyedrops may be prescribed to control glaucoma.
Ito, M, et al. Sturge-Weber Disease: Operative Indications and Surgical Results. Brain Development, 12; 473-477 (1990).
Lewis, R. Erasing Skin Marks with Lasers. FDA Consumer, Food and Drug Administration, Rockville, Md, pp. 23-26 (March 1992).
Wyngaarden, J, et al (eds). Cecil Textbook of Medicine 19th edition, W.B. Saunders Co., Philadelphia, p. 2144 (1992).
Subacute Sclerosing Panencephalitis (SSPE) : a progressive neurological disorder characterized by inflammation of the brain (encephalitis). The disease may
develop due to reactivation of the measles virus or an inappropriate immune response to the measles virus. SSPE usually develops 2 to 10 years after the original viral
attack. Initial symptoms may include memory loss, irritability, seizures, involuntary muscle movements, and/or behavioral changes, leading to neurological deterioration.
Sucrose Isomaltose Malabsorption, Congenital : a rare inherited metabolic disorder characterized by the deficiency or absence of the enzymes sucrase and
isomaltase. This enzyme complex (sucrase-isomaltase) assists in the breakdown of a certain sugar (i.e., sucrose) and certain products of starch digestion (dextrins). The
sucrase-isomaltase enzyme complex is normally found within the tiny, finger-like projections or microvilli (brush border) lining the small intestine. When this enzyme
complex is deficient, appropriate absorption of the nutrients from ingested sucrose and starch is hampered. Symptoms of this disorder become evident soon after
sucrose or starches, as found in modified milk formulas with sucrose or polycose, are ingested by an affected infant. Breast-fed infants or those on lactose-only formula
manifest no symptoms until such time as sucrose (found in fruit juices, solid foods, and/or some medications) is introduced into the diet. Symptoms are variable among
affected individuals and may include watery diarrhea, abdominal swelling (distension) and/or discomfort, abnormally low levels of body fluids (dehydration), malnutrition,
delay in growth and weight gain (failure to thrive), irritability, colic, abrasion and/or irritation (excoriation) of the skin on the buttocks, and/or vomiting. Intolerance to starch
often disappears within the first few years of life and the symptoms of sucrose intolerance usually improve as the affected child ages. Congenital sucrose-isomaltose
malabsorption is inherited as an autosomal recessive genetic trait.
Sudden Infant Death Syndrome (SIDS) 嬰兒猝死徵候: the sudden death of any infant that is unexpected by history and in which no adequate cause for
death can be found. The disorder occurs in infants under the age of one year.
Summitt Syndrome : an extremely rare genetic disorder characterized by malformations of the head, abnormalities of the hands and/or feet, and obesity. The syndrome
is inherited as an autosomal recessive genetic trait. Some researchers believe that Summitt Syndrome may be a variant of Carpenter Syndrome
(Acrocephalopolysyndactyly Type II), a rare genetic disorder that is also characterized by malformations of the head, hands, and/or feet.
Sutton's Disease II : characterized by the recurring eruption of painful inflamed ulcers in the mouth (stomatitis). There may be multiple ulcers of varying sizes. These
ulcers in the mouth are commonly called canker sores. Sutton's Disease II is also known as Recurrent Aphthous Stomatitis. The exact cause of this disease is not fully
understood, although it may be due to an abnormal immune response to the bacteria that are normally in the mouth.
Sweet Syndrome : a rare skin disorder characterized by fever, inflammation of the joints (arthritis), and the sudden onset of a rash. The rash consists of bluish-red, tender
papules that usually occur on the arms, legs, face or neck, most often on one side of the body (asymmetric). In approximately 80 percent of cases, Sweet syndrome
occurs by itself for no known reason (idiopathic). In 10 to 20 percent of cases, the disorder is associated with an underlying malignancy, usually a hematologic
malignancy such as certain types of leukemia. The exact cause of Sweet syndrome is unknown.
Sydenham chorea ( St. Vitus dance ) : a childhood movement disorder characterized by rapid, irregular, aimless, involuntary movements of the muscles of the
limbs, face, and trunk. The disorder, which is considered a manifestation of rheumatic fever (streptococcal infection), typically has an onset between the ages of 5 and
15. Girls are affected more often than boys. The symptoms may appear gradually or suddenly, and may include muscle weakness, hypotonia (decreased muscle tone),
and clumsiness. The symptoms vary in severity--from mild cases in which there is restlessness, facial grimacing, and a slight degree of incoordination of movements, to
severe cases involving involuntary movements that incapacitate the child. The disorder may strike up to 6 months after the fever or infection has cleared. The chorea is
believed to result from an autoimmune mechanism that occurs when the streptococcal infection causes the body to make antibodies to specific brain regions.
There is no specific treatment for Sydenham chorea. Treatment is symptomatic and may include bed rest, sedatives, and the drug diazepam for controlling movements.
Penicillin may also be prescribed for treatment of the fever or infection. Penicillin prophylaxis is often prescribed to avoid further infections with streptococcal bacteria.
Swedo, S, et. al. Sydenham's Chorea: Physical and Psychological Symptoms of St. Vitus Dance. Pediatrics, 91:4; 706-713 (April 1993).
Berkow, R (ed). The Merck Manual of Diagnosis and Therapy. vol. II, 16th edition, Merck & Co., Inc., Rahway, NJ, pp. 678-679 (1992).
Thoene, J (ed). Physicians' Guide to Rare Diseases. Dowden Publishing Co., Inc., Montvale, NJ, p. 443 (1992).
Bradley, W, et al (eds). Neurology in Clinical Practice: Principles of Diagnosis and Management. vol. II, Butterworth-Heinemann, Boston, p. 1584 (1991).
Dajer, T. Saint Vitus's Dance. Discover, pp. 86, 88, 90 (March 1990).
Joynt, R (ed). Clinical Neurology. vol. 3, Chapter 38, J.B. Lippincott Co., Philadelphia, pp. 67-69 (1990).
Shannon, K, and Fenichel, G. Pimozide Treatment of Sydenham's Chorea. Neurology, 50; 186 (1990).
Syncope : is the temporary loss of consciousness due to a sudden decline in blood flow to the brain. It may be caused by an irregular cardiac rate or rhythm or by changes
of blood volume or distribution. Syncope can occur in otherwise healthy people. The patient feels faint, dizzy, or lightheaded (presyncope), or loses consciousness
(syncope).
Non-cardiac syncope is treated acutely by lying down with the legs elevated. Infrequent episodes of non-cardiac syncope usually do not require treatment.
Abboud, F. Neurocardiogenic Syncope. The New England Journal of Medicine 328; 1117-1120 (1993).
Robertson, R.M. et. al. Neurally mediated syncope: pathophysiology and implications for treatment. American Journal of Medical Science, 317; 102-109 (1999).
Syphilis, Acquired 後天梅毒: Syphilis is a chronic infectious disease caused by a microorganism (treponema pallidum). It is transmitted by direct contact with an
infected lesion, usually through sexual intercourse. When untreated, Syphilis progresses through primary, secondary and latent stages. Symptoms can remain dormant
for years. Eventually any tissue or vascular organ in the body may be affected. Syphilis may also be acquired by the fetus in the uterus (Congenital Syphilis). Syphilis
can be cured with appropriate treatment.
Syphilis, Congenital : a chronic infectious disease caused by a spirochete (treponema pallidum) acquired by the fetus in the uterus before birth. Symptoms of this
disease may not become apparent until several weeks or months after birth and in some cases may take years to appear. Congenital Syphilis is passed on to the child
from the mother who acquired the disease prior to or during pregnancy. The infant is more likely to have congenital syphilis when the mother has been infected during
pregnancy although it is not uncommon for an infant to acquire congenital syphilis from a mother that was infected prior to pregnancy. Symptoms of early Congenital
Syphilis include fever, skin problems and low birth weight. In Late Congenital Syphilis the symptoms of the disease do not usually become apparent until two to five
years of age. In rare cases the disease may remain latent for years with symptoms not being diagnosed until well into adulthood.
Syringobulbia 延髓空洞病 : a neurological disorder characterized by a fluid-filled cavity (syrinx) within the spinal cord that extends to involve the brain stem. It
usually occurs as a slitlike gap within the lower brainstem that may affect the lower cranial nerves including sensory and motor nerve pathways by disruption or
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Syringomyelia 脊髓空洞病 : a disorder in which a cyst forms within the spinal cord. This cyst, called a syrinx, expands and elongates over time, destroying the
center of the spinal cord. Since the spinal cord connects the brain to nerves in the extremities, this damage results in pain, weakness, and stiffness in the back,
shoulders, arms, or legs. Other symptoms may include headaches and a loss of the ability to feel extremes of hot or cold, especially in the hands. Each patient
experiences a different combination of symptoms. Magnetic resonance imaging (MRI) has significantly increased the number of syringomyelia cases diagnosed in the
beginning stages of the disorder. Signs of the disorder tend to develop slowly, although sudden onset may occur with coughing or straining. If not treated surgically,
syringomyelia often leads to progressive weakness in the arms and legs, loss of hand sensation, and chronic, severe pain. In most cases, the disorder is related to a
congenital abnormality of the brain called a Chiari I malformation. This malformation occurs during the development of the fetus and causes the lower part of the
cerebellum to protrude from its normal location in the back of the head into the cervical or neck portion of the spinal canal. Syringomyelia may occur as a complication of
trauma, meningitis, hemorrhage, a tumor, or arachnoiditis. Symptoms may appear months or even years after the initial injury, starting with pain, weakness, and sensory
impairment originating at the site of trauma. Some cases of syringomyelia are familial, although this is rare.
Surgery is usually recommended for syringomyelia patients. Recurrence of syringomyelia after surgery may make additional operations necessary; these may not be
completely successful over the long term. In some patients it may be necessary to drain the syrinx, which can be accomplished using a catheter, drainage tubes, and
valves. In the absence of symptoms, syringomyelia is usually not treated. In addition, a physician may recommend not treating the condition in patients of advanced age
or in cases where there is no progression of symptoms. Whether treated or not, many patients will be told to avoid activities that involve straining.
Symptoms usually begin between the ages of 25 and 40 and may worsen with straining or any activity that causes cerebrospinal fluid pressure to fluctuate. Some patients,
however, may have long periods of stability. Surgery results in stabilization or modest improvement in symptoms for most patients. Delay in treatment may result in
irreversible spinal cord injury.
Investigators have found that as the heart beats, syrinx fluid is forced downward. This finding suggests a role for the cardiovascular system in syringomyelia. Surgical
techniques are also being refined by the neurosurgical research community. It is also important to understand the role of birth defects in the development of hindbrain
malformations that can lead to syringomyelia. Dietary supplements of folic acid during pregnancy have already been found to reduce the number of cases of certain birth
defects. Diagnostic technology is another area for continued research. contrast dyes. Patients can expect even better techniques to become available in the future from
the research efforts of scientists today

T
Tangier disease : an inherited blood disorder involving decreased concentrations of fat compounds in the blood called high density lipoproteins. Large amounts of these
compounds may accumulate in certain organs of the body causing tissue discoloration. In later stages, these accumulations may cause organ enlargement and/or blood
circulation problems.
Tardive dyskinesia 遲發性運動困難 (TD) : an involuntary neurological movement disorder caused by the use of neuroleptic drugs that are prescribed to treat
certain psychiatric or gastrointestinal conditions. Long-term use of these drugs may produce biochemical abnormalities in the area of the brain known as the striatum.
The reasons that some people who take these drugs may get Tardive Dyskinesia, and some people do not, is unknown. Tardive Dystonia is believed to be the more
severe form of Tardive Dyskinesia. Tardive dyskinesia is characterized by repetitive, involuntary, purposeless movements. Features of the disorder may include
grimacing, tongue protrusion, lip smacking, puckering and pursing, and rapid eye blinking. Rapid movements of the arms, legs, and trunk may also occur. Impaired
movements of the fingers may appear as though the patient is playing an invisible guitar or piano.
There is no standard treatment for tardive dyskinesia. Treatment is highly individualized. The first step is generally to stop or minimize the use of the neuroleptic drug.
However, for patients with a severe underlying condition this may not be a feasible option. Replacing the neuroleptic drug with substitute drugs may help some patients.
Other drugs such as benzodiazepines, adrenergic antagonists, and dopamine agonists may also be beneficial.
Tarsal tunnel syndrome 瞼板管徵候 : involves pressure on nerves to the foot causing pain. Persons with this disorder may notice a painful burning or tingling
sensation in and around the ankles, sometimes extending to the toes. The disorder usually affects people who stand on their feet for long periods of time.
Tarui disease (GSD VII) : a glycogen storage disease. Symptoms of this hereditary metabolic disorder are caused by a lack of the enzyme phosphofructokinase in
muscle and a partial deficiency of the enzyme in red blood cells. The enzyme deficiency prevents the breakdown of glucose into energy. Tarui Disease is characterized
by pain and cramps in muscles during heavy exercise.
Tay-Sachs disease 戴- 薩克斯氏症 ( 黑朦性家族性痴呆症 ) : a rare, progressive, neurodegenerative disorder in which deficiency of an enzyme
(hexosaminidase A) results in excessive accumulation of certain fats (gangliosides) in the brain. This disorder is categorized as a lysosomal storage disease. Lysosomes
are the major digestive units in cells. Enzymes within lysosomes break down or "digest" nutrients, including certain complex carbohydrates and fats. Infants with
Tay-Sachs disease appear to develop normally for the first few months of life. Then, as nerve cells become distended with fatty material, a relentless deterioration of
mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in. A much rarer form of the
disorder which occurs in patients in their twenties and early thirties is characterized by unsteadiness of gait and progressive neurological deterioration. During infancy,
associated abnormalities may include an exaggerated startle response to sudden noises, decreased eye contact, listlessness, loss of previously acquired skills (i.e.,
psychomotor regression), and severely diminished muscle tone (hypotonia). With disease progression, affected infants and children may develop cherry-red spots within
the middle layer of the eyes, gradual loss of vision, and deafness, increasing muscle stiffness and restricted movements (spasticity), eventual paralysis, uncontrolled
electrical disturbances in the brain (seizures), and deterioration of cognitive processes (dementia). Life-threatening complications may result by about three years of age.
Tay-Sachs disease is inherited as an autosomal recessive trait. The disorder results from changes (mutations) of a gene known as the HEXA gene, which regulates
production of the hexosaminidase A enzyme. Patients with Tay-Sachs have a "cherry-red" spot in the back of their eyes. The condition is caused by insufficient activity of
an enzyme called hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as gangliosides. The HEXA gene has been mapped to the long
arm (q) of chromosome 15 (15q23-q24). Tay-Sachs disease primarily affects individuals of Ashkenazi Jewish ancestry. Investigators indicate that approximately one in
30 individuals of Ashkenazi Jewish descent carries a single mutated copy of the HEXA gene (heterozygous carriers). When both parents are found to carry a genetic
mutation in hexosaminidase A, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal monitoring of
pregnancies is available if desired.
Presently there is no treatment for Tay-Sachs. Even with the best of care, children with Tay-Sachs disease usually die by age 5.
Demonstration of an Alteration of Ganglioside Metabolism in Tay-Sachs Disease Biochemical and Biophysical Research Communications, 37; 526-531 (1969)
Tay-Sachs Disease: Generalized Absences of a beta-D-N-Acetylhexosaminidase Component Science, 165; 698-700 (1969)
The GM2 Gangliosides Chapter 35 in The Molecular and Genetic Basis of Neurological Disease, Butterworth-Heinemann, Boston, pp. 531-540 (1993)
The GM2 Gangliosides Chapter 92 in The Metabolic and Molecular Bases of Inherited Disease, 7th ed, McGraw-Hill, New York, pp. 2839-2879 (1995)
The Metabolism of Tay-Sachs Ganglioside: Catabolic Studies with Lysosomal Enzymes from Normal and Tay-Sachs Brain Tissue Journal of Clinical Investigation, 51;
2339-2345 (1972)
Telecanthus with Associated Abnormalities 眼角尾 : a very rare genetic disorder affecting the eyes and other parts of the body. Major symptoms include
very widely spaced eyes (hypertelorism), urinary tract anomalies, and abnormalities in the development of the mouth and the lips.
Temporomandibular Joint Dysfunction (TMJ) : a painful disorder of the jaw joint that is made worse during or after eating or yawning. It can cause limited jaw
movement and clicks and pops during chewing. In severe cases pain can radiate into the neck, shoulders and back.testes cancer
Tethered spinal cord syndrome 局限脊椎症候群 : a disorder characterized by progressive neurological deterioration that results from compression of the
lowermost bundle of nerves of the spinal cord (cauda equina). It is most commonly associated with a defective closing of the neural tube (precursor of the spinal column)
during embryonic development (Spina Bifida).
Tetrahydrobiopterin deficiencies 四氫生物蝶呤缺乏症: a rare genetic, neurological disorder present at birth. It is caused by an inborn error of
metabolism. Tetrahydrobiopterin is a natural substance (coenzyme) that enhances the action of enzymes. When Tetrahydrobiopterin is deficient, an abnormally high
blood level of the amino acid phenylalanine occurs and low levels of some neurotransmitters are found. To avoid irreversible neurological damage, diagnosis and
treatment of this progressive disorder are essential early in life.

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Tetralogy of Fallot Fallot 氏四疊症 : the most common form of cyanotic congenital heart disease. Cyanosis is the abnormal bluish discoloration of the skin that
occurs because of low levels of circulating oxygen in the blood. The normal heart has 4 chambers. The 2 upper chambers, known as atria, are separated from each
other by a fibrous partition known as the atrial septum. The two lower chambers are known as ventricles and are separated from each other by the ventricular septum.
Valves connect the atria (left and right) to their respective ventricles. The aorta, the main vessel of arterial circulation, carries blood from the left ventricle and away from
the heart. Tetralogy of Fallot consists of a combination of 4 different heart defects: a ventricular septal defect; obstructed outflow of blood from the right ventricle to the
lungs (pulmonary stenosis); a displaced aorta, which causes blood to flow into the aorta from both the right and left ventricles (dextroposition or overriding aorta); and
abnormal enlargement of the right ventricle (right ventricular hypertrophy). The severity of the symptoms is related to the degree of blood flow obstruction from the right
ventricle. If infants with Tetralogy of Fallot are not treated, the symptoms usually become progressively more severe. Blood flow to the lungs may be further decreased
and severe cyanosis may cause life-threatening complications. The exact cause of Tetralogy of Fallot is not known.
Thalamic syndrome (Dejerine-Roussy syndrome) : a rare neurological disorder that occurs as a result of damage to the thalamus, a part of the brain that
affects sensation. Primary symptoms are pain and loss of sensation usually in the face, arm, or leg.
Thalassemia major 地中海型貧血: a rare blood disorder characterized by a marked increase in F hemoglobin and a decrease in the production of certain oxygen
carrying proteins in red blood cells (beta polypeptide chains in the hemoglobin molecule). Thalassemia Major is the most severe form of chronic familial anemias that
result from the premature destruction of red blood cells (hemolytic). This disease was originally found in people living near the Mediterranean Sea. People with this
disorder also have a reduced number of circulating red blood cells (erythrocytes).
Thalassemia minor : a rare blood disorder characterized by a moderately low level of hemoglobin in red blood cells (anemia). This disorder is inherited. People with
Thalassemia Minor have one of a pair (heterozygous) of the thalassemia gene. If a person has two copies of the gene, they will have Thalassemia Major, which is a
more serious disease.
Thoracic outlet syndrome : caused by compression of the nerves in the brachial plexus (nerves that pass into the arms from the neck) or blood vessels. Patients may
have pain in the shoulder, arm, or hand, or in all three locations. The hand pain is often most severe in the fourth and fifth fingers. The pain is aggravated by the use of
the arm, and "fatigue" of the arm is often prominent.
The goals of treatment are two-fold: to correct postural abnormalities that might contribute to the compression, and to establish an exercise program to strengthen the
shoulder muscles. Most often a conservative course of treatment is followed. If vascular or major neurological impairment is present, surgical decompression may be
considered. However, only a small number of patients require surgery.
Bonica, JJ (ed). The Management of Pain. 2nd edition, Lea & Febiger.
Cuetter, AC, and Bartoszek, DM. The Thoracic Outlet Syndrome: Controversies, Overdiagnosis, Overtreatment, and Recommendations for Management.Muscle and
Nerve, 12; 410-419 (May 1989).
Joynt, RJ (ed). Clinical Neurology. 4 (1991).
Karas, SE. Thoracic Outlet Syndrome. Clinics in Sport Medicine, 9:2; 297-310.
Sanders, RJ, and Haug, C. Review of Aterial Thoracic Outlet Syndrome. Surgery, Gynecology and Obstetrics, 173; 415-425 (November 1991).
Schwartzman, RJ. Brachial Plexus Traction Injuries. Hand Clinics, 7:3; 547-556 (August 1991).
Three M Syndrome : an extremely rare inherited disorder characterized by low birth weight, short stature (dwarfism), characteristic abnormalities of the head and facial
(craniofacial) area, distinctive skeletal malformations, and/or other physical abnormalities. The name "three M" refers to the last initials of three researchers (J.D. Miller,
V.A. McKusick, P. Malvaux) who were among the first to identify the disorder. Characteristic craniofacial malformations typically include a long, narrow head
(dolichocephaly), an unusually prominent forehead (frontal bossing), and a triangular-shaped face with a prominent, pointed chin, large ears, and/or abnormally flat
cheeks. In addition, in some affected children, the teeth may be abnormally crowded together; as a result, the upper and lower teeth may not meet properly
(malocclusion). Skeletal abnormalities associated with the disorder include unusually thin bones, particularly the shafts of the long bones of the arms and legs
(diaphyses); abnormally long, thin bones of the spinal column (vertebrae); and/or distinctive malformations of the ribs and shoulder blades (scapulae). Affected
individuals may also have additional abnormalities including permanent fixation of certain fingers in a bent position (clinodactyly), unusually short fifth fingers, and/or
increased flexibility (hyperextensibility) of the joints. The range and severity of symptoms and physicial features may vary from case to case. Three M syndrome is
thought to be inherited as an autosomal recessive genetic trait.
Thrombasthenia of Glanzmann and Naegeli 血小板功能不足: a rare inherited blood clotting (coagulation) disorder characterized by the impaired function
of specialized red blood cells (platelets) that are essential for proper blood clotting. Symptoms of this disorder may include abnormal bleeding and/or hemorrhage. The
symptoms are not progressive and may improve with age. However, prolonged untreated or unsuccessfully treated hemorrhaging associated with Thrombasthenia of
Glanzmann and Naegeli may be life-threatening.
Thrombocythemia, Essential : a rare myeloproliferative disorder characterized by overproduction of blood platelets (thrombocythemia or thrombocytosis) in the bone
marrow. Platelets are specialized blood cells that help prevent and stop bleeding. Symptoms of essential thrombocythemia vary from case to case and are related to
episodes of active bleeding (hemorrhaging) or the abnormal formation of blood clots (thrombosis). Bleeding episodes may present as bruising (bleeding under the skin),
nosebleeds, and gastrointestinal bleeding. Abnormal thombosis formation may result in a lack of blood flow (ischemia) to the central nervous system. This may result in
dizziness, visual problems, headaches, and/or mini-strokes (transient ischemic attacks). Lack of blood flow to the extremities (peripheral vascular ischemia) may result in
abnormalities such as pain, tingling, or numbness of affected fingers and toes. In some cases, the disorder may progress into another myeloproliferative disorder such
polycythemia vera or idiopathic myelofibrosis. The exact cause of essential thrombocythemia is not known.
Thrombocytopenia, Essential 血小板減少: a rare blood disease affecting the clotting factor (platelets) of the blood. It is characterized by an abnormally low
platelet count and a shorter than normal (ten days) platelet survival time. Major symptoms include a tendency to bleed excessively into the skin or mucous membranes,
especially during menstruation. There are many different reasons for the development of decreased marrow production or platelet destruction that causes this disorder.
These can sometimes be determined by examination of bone marrow. Other forms of Thrombocytopenia may be associated with hereditary factors.
Thrombocytopenia absent radius syndrome (TAR) : a genetic disorder characterized by a very low level of the number of blood platelets (thrombocytopenia)
and the absence or underdevelopment of one of the short bones (radius) in the arm. TAR Syndrome is inherited as an autosomal recessive genetic trait.
Tietze syndrome : a rare, inflammatory disorder characterized by chest pain and swelling of the cartilage of one or more of the upper ribs (costochondral junction). Onset
of pain may be gradual or sudden; pain may spread to affect the arms and/or shoulders. The exact cause of Tietze Syndrome is not known.
Tinnitus 耳鳴 : a common condition characterized by the sensation of sound for which there is no external source outside the individual. In other words, people with
Tinnitus perceive sound when no environmental or external sounds are present. These sounds have been described as clicking, buzzing, and/or ringing. Tinnitus
commonly occurs as a side effect of certain drugs and because of other underlying disorders (secondary), especially those of the middle and inner ear (i.e., cochlea). In
rare cases, no underlying cause can be found and the condition is termed "idiopathic" Tinnitus. Infection, obstruction of blood vessels near the ear, and/or environmental
factors have also been implicated as a cause of Tinnitus.
Tolosa Hunt Syndrome : a rare neurological disorder characterized by severe headaches and pain often preceding weakness and painful paralysis (ophthalmoplegia)
of certain eye muscles. Symptoms usually affect only one side of the head (unilateral). In most cases, affected individuals experience intense sharp pain and paralysis of
muscles around the eye. Symptoms subside without intervention (spontaneous remission) and recur without a distinct pattern (randomly). In addition, affected individuals
may exhibit paralysis (palsy) of certain facial nerves and drooping of the upper eyelid (ptosis). Other symptoms may include double vision, fever, chronic fatigue,
headaches, a feeling that one's surroundings are spinning (vertigo), pain in the joints (arthralgia), and/or abnormal protrusion of one or both eyeballs (exophthalmos).
The exact cause of Tolosa-Hunt Syndrome is not known, but the disorder is thought to be associated with inflammation of the areas behind the eyes (cavernous sinus
and superior orbital fissure).
Tongue Carcinoma 舌癌: an oral cancer that is characterized by an ulcerating malignant tumor, usually on the side of the tongue, consisting of scaly (squamous) cells.
The tumor may spread to the lymph nodes on the same side of the neck.
Tongue, Fissured : a rare inherited disorder characterized by grooves or depressions (fissures) on the tongue. Fissures may differ in size and depth. In rare cases,
fissured tongue may be associated with incomplete closure of the roof of the mouth (cleft palate). In some cases, fissured tongue is thought to be inherited as an
autosomal dominant genetic trait.
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Tongue, Geographic : an inflammation of the tongue (glossitis) that may go into remission and recur. This form of inflammation is characterized by irregular, migrating
denuded smooth areas (excoriations) on the tongue that may feel slightly sore and itchy.
Tongue, Hairy : a disorder characterized by yellowish, brownish, blackish, or bluish discoloration of the tongue, with excessive growth of the threadlike elevations in front
of the taste buds (filiform papillae). These elevations are arranged in a V-form towards the back of the tongue. A bad taste in the mouth usually also occurs.
Tooth and Nail Syndrome : a rare genetic disorder that belongs to a group of diseases known as ectodermal dysplasia. Ectodermal dysplasia typically affect the teeth,
nails, hair, and/or skin. Tooth and Nail syndrome is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary
(permanent) teeth occurring in association with improper development (dysplasia) of the nails, particularly the toenails. In individuals with Tooth and Nail syndrome,
certain primary teeth and/or several secondary teeth may either be absent or widely spaced and/or conical in shape (coniform). In addition, in infants with the disorder,
certain nails may be absent at birth and may grow extremely slowly, particularly during the first two to three years of life. The nails may be unusually small and
underdeveloped (hypoplastic), with distinctive, abnormal hollowing that causes them to appear spoon shaped. The toenails are usually more severely affected than the
fingernails. In rare cases, additional symptoms and findings are present. Tooth and Nail Syndrome is inherited as an autosomal dominant genetic trait.
TORCH Syndrome : refers to infection of a developing fetus or newborn by any of a group of infectious agents. "TORCH" is an acronym meaning (T)oxoplasmosis,
(O)ther Agents, (R)ubella (also known as German Measles), (C)ytomegalovirus, and (H)erpes Simplex. Infection with any of these agents (i.e., Toxoplasma gondii,
rubella virus, cytomegalovirus, herpes simplex viruses) may cause a constellation of similar symptoms in affected newborns. These may include fever; difficulties feeding;
small areas of bleeding under the skin, causing the appearance of small reddish or purplish spots; enlargement of the liver and spleen (hepatosplenomegaly); yellowish
discoloration of the skin, whites of the eyes, and mucous membranes (jaundice); hearing impairment; abnormalities of the eyes; and/or other symptoms and findings.
Each infectious agent may also result in additional abnormalities that may be variable, depending upon a number of factors (e.g., stage of fetal development).
Tourette disorder ( Gilles de la Tourette syndrome )慢性多發性抽搐伴有囈語綜合徵候群 : a neurologic disorder (the basal ganglia,
particularly the caudate nucleus and the inferior prefrontal cortex, have been implicated in the pathogenesis of Tourette's syndrome, as well as in that of
obsessive–compulsive disorder and attention-deficit–hyperactivity disorder )named after the French neurologist Georges Gilles de la Tourette, who, in 1885, described
nine patients with childhood-onset tics, accompanied in some by uncontrollable noises and utterances, as well as features that are now associated with
attention-deficit– hyperactivity disorder, obsessive–compulsive disorder, poor impulse control, and other coexisting behavioral problems.a hereditary neurological
movement disorder that is characterized by repetitive motor and uncontrollable vocal sounds called tics (抽搐). Tics, the clinical hallmark of Tourette's syndrome, are
sudden, brief, intermittent, involuntary or semivoluntary movements (motor tics) or sounds (phonic or vocal tics). In a few cases, such tics can include inappropriate
words and phrases. The symptoms of TS generally appear before the individual is 18 years old. Although TS symptoms range from very mild to quite severe, the
majority of cases fall into the mild category.The first symptoms of TS are usually facial tics - commonly eye blinking. With time, other motor tics may appear, such as
head jerking, neck stretching, foot stamping, or body twisting and bending. It is not uncommon for a person with TS to continuously clear his or her throat, cough,
sniff, grunt, yelp, bark, or shout. A person with TS may touch other people excessively or repeat actions obsessively and unnecessarily. A few patients with TS
demonstrate self-harming behaviors such as lip and cheek biting and head banging. People with TS can sometimes suppress their tics for a short time, but eventually
tension mounts to the point where the tic escapes. Tics worsen in stressful situations and improve when the person relaxes or is absorbed in an activity. TS is
diagnosed by observing the symptoms and evaluating family history. Tics must be present for at least one year. TS is suppose a midbrain, basal ganglion or
association cortex disfunction.
The majority of people with TS require no medication, but medication is available to help when symptoms interfere with functioning. TS medications are only able to
help reduce specific symptoms. Neuroleptic and antihypertensive drugs can have long- and short-term side effects, and use of stimulants is controversial. Relaxation
techniques and biofeedback may be useful in alleviating stress.
Ref : J Jankovic Tourette's Syndrome N Eng J Med. 345:1184-1192, 2001

Townes Brocks Syndrome : a rare genetic disorder present at birth. Symptoms of the disorder and the severity of these symptoms vary from person to person. Major
characteristics may include an absence of an anal opening in association with hand, foot and ear abnormalities. Hearing loss or deafness due to lesions or dysfunctions
of part of the internal ear or its nerve tracts and centers (sensorineural hearing loss or deafness) is present in some patients.
Toxic Shock Syndrome : a rare multisystem disease with many widespread symptoms. It is caused by a toxin that is produced and secreted by the bacterium
Staphylococcus aureus. The symptoms of Toxic Shock Syndrome may include a sudden high fever, nausea, vomiting, diarrhea, abnormally low blood pressure
(hypotension), and a characteristic skin rash that resembles a bad sunburn. Most cases of Toxic Shock Syndrome occur in menstruating females in association with the
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 use of tampons. Other cases may occur in association with minor postoperative wound infections or nasal packing.
Toxocariasis 毒蛔蟲 : an infectious disease caused by the parasite Toxocara, a worm of dogs and cats. Toxocariasis is not limited to pet owners. The eggs of the
parasite are passed in the stool and lie dormant in the soil. For unknown reasons, humans become infected when exposed to the eggs passed only by dogs. Infection
occurs when there is purposeful or incidental ingestion of soil from hand to mouth through such activities as biting finger nails or inserting recently contaminated objects
such as toys into the mouth. (Consequently, the disorder is found disproportionately among children.) Once ingested, the eggs hatch into larvae and burrow into body
tissue of all types. The symptoms experienced depend on the number of eggs ingested and the person� s immune status, yet a single egg has the potential of causing
blindness. Everywhere the larvae travel, they cause inflammation and tissue death.
Toxoplasmosis 毒漿原蟲屬 : an infectious disease that can be caused by contact with a microscopic parasitic organism called Toxoplasma gondii. This parasitic
infection, found worldwide, can be either acquired or be present at birth (congenital). The congenital type is a result of a maternal infection during pregnancy that is
transmitted to the fetus and involves lesions of the central nervous system. These lesions may lead to blindness, brain defects and more serious conditions. The disorder
may be most severe when it is transmitted to the fetus during the second through sixth month of pregnancy. Twenty to 80 percent of those affected will show the
presence of toxoplasmosis antibodies when tested. The acquired form includes these two types of Toxoplasmosis: 1) Lymphadenopathic Toxoplasmosis is a form of the
disorder that resembles mononucleosis. 2) Disseminated Toxoplasmosis is a form of the disorder in which lesions involve chiefly the lungs, liver, heart, skin, muscle,
brain, and spinal cord membranes. It is characterized by inflammation of the lungs (pneumonitis), hepatitis, inflammation of the muscular walls of the heart (myocarditis),
and inflammation of the brain and meninges (meningoencephalitis), all in varying degrees.
Transient ischemic attack (TIA): just like a stroke, except that it lasts only a few minutes. It occurs when the blood supply to part of the brain is briefly interrupted. TIA
symptoms, which usually occur suddenly, are similar to those of stroke but do not last as long. Most symptoms of a TIA disappear within an hour, although they may
persist for up to 24 hours. Symptoms can include: numbness or weakness in the face, arm, or leg, especially on one side of the body; confusion or difficulty in talking or
understanding speech; trouble seeing in one or both eyes; and difficulty with walking, dizziness, or loss of balance and coordination.
Because there is no way to tell whether symptoms are from a TIA or an acute stroke, patients should assume that all stroke-like symptoms signal an emergency and
should not wait to see if they go away. A prompt evaluation (within 60 minutes) is necessary to identify the cause of the TIA and determine appropriate therapy. Depending
on a patient's medical history and the results of a medical examination, the doctor may recommend drug therapy or surgery to reduce the risk of stroke in people who
have had a TIA. The use of antiplatelet agents, particularly aspirin, is a standard treatment for patients at risk for stroke. People with atrial fibrillation (irregular beating of
the heart) may be prescribed anticoagulants.
Berkow, R (ed) The Merck Manual of Diagnosis and Therapy: General Medicine vol. I, 16th edition, Merck & Co., Inc., Rahway, NJ, pp. 1256-1257 (1992)
Albers, GW, et al. Supplement to the Guidelines for the Management of Transient Ischemic Attacks. A Statement from the Ad Hoc Committee on Guidelines for the
Management of Transient Ischemic Attacks, Stroke Council, American Heart Association Stroke, 30:11; 2502-2511 (1999)
Feinberg, WM, et al. Guidelines for the Management of Transient Ischemic Attacks. Special Report from the Ad Hoc Committee on Guidelines for the Management of
Transient Ischemic Attacks of the Stroke Council of the American Heart Association Stroke, 25:6; 1320-1335 (June 1994)
Hinkle, JL. New Developments in Managing Transient Ischemic Attack and Acute Stroke AACN Clinical Issues, 8:2; 205-213 (May 1997)
Ryan, M, et al. Preventing Stroke in Patients with Transient Ischemic Attacks American Family Physician, 60:2329-2341 (November 15, 1999)
Transverse myelitis : a demyelinating (loss of the fatty tissue around the nerves) disorder of the spinal cord. It may occur alone or in combination with demyelination in
other parts of the nervous system. Onset of the disorder is sudden. Symptoms may include low back pain, spinal cord dysfunction, muscle spasms, a general feeling of
discomfort, headache, loss of appetite, and numbness or tingling in the legs. Transverse myelitis may be caused by viral infections, spinal cord injuries, immune
reactions, or insufficient blood flow through the blood vessels in the spinal cord. It may also occur as a complication of such disorders as optic neuromyelitis, multiple
sclerosis, smallpox, measles, or chickenpox.
There is no specific treatment for transverse myelitis. Treatment for the disorder is symptomatic.
Beers, MH, and Berkow, R (eds). The Merck Manual of Diagnosis and Therapy 17th edition, Merck Research Laboratories, Whitehouse Station, NJ, p.1483 (1999)
Kennedy, P, and Weir, A. Rapid Recovery of Acute Transverse Myelitis Treated with Steroids Postgraduate Medical Journal, 64; 384-385 (1988)
Tippett, D, et al. Relapsing Transverse Myelitis Neurology, 41; 703-706 (1991)
Thomas, M, and Thomas, J, Jr. Acute transverse myelitis Journal of the Louisiana State Medical Society, 149 (2); 75-77 (1997)
Traumatic brain injury ( Bain Injury, Head Injury, TBI) : occurs when a sudden physical assault on the head causes damage to the brain. The damage can
be focal, confined to one area of the brain, or diffuse, involving more than one area of the brain. TBI can result from a closed head injury or a penetrating head injury. A
closed head injury occurs when the head suddenly and violently hits an object, but the object does not break through the skull. A penetrating head injury occurs when an
object pierces the skull and enters the brain tissue. Several types of traumatic injuries can affect the head and brain. A skull fracture occurs when the bone of the skull
cracks or breaks. A depressed skull fracture occurs when pieces of the broken skull press into the tissue of the brain. This can cause bruising of the brain tissue, called a
contusion. A contusion can also occur in response to shaking of the brain within the confines of the skull, an injury called "countrecoup." Shaken baby syndrome is a
severe form of head injury that occurs when a baby is shaken forcibly enough to cause extreme countrecoup injury. Damage to a major blood vessel within the head can
cause a hematoma, or heavy bleeding into or around the brain. The severity of a TBI can range from a mild concussion to the extremes of coma or even death. A coma
is a profound or deep state of unconsciousness. Symptoms of a TBI may include headache, nausea, confusion or other cognitive problems, a change in personality,
depression, irritability, and other emotional and behavioral problems. Some people may have seizures as a result of a TBI.
Immediate treatment for TBI involves surgery to control bleeding in and around the brain, monitoring and controlling intracranial pressure, insuring adequate blood flow to
the brain, and treating the body for other injuries and infection. Doctors often use the Glasgow Coma Scale to rate the extent of injury and chances of recovery. The scale
(3-15) involves testing for three patient responses: eye opening, best verbal response, and best motor response. A high score indicates a good prognosis and a low score
indicates a poor prognosis.
Joynt, R. (ed.) Clinical Neurology. Vol. 3, Chap. 30, J.B. Lippincott Co., Philadelphia, PA pp. 1-61 (1990).
Beers, M. and R. Berkow (eds) The Merck Manual of Diagnosis and Therapy. Section 14, Chapter 175, Merck Research Laboratories, Whitehouse Station, New Jersey,
pp. 1427-1430 (1999).
National Institutes of Health Consensus Development Conference Statement Rehabilitation of Persons with Traumatic Brain Injury: October 26-28, 1998 NIH, Bethesda,
MD (September, 1999).
Treacher Collins Syndrome 崔屈克林斯症 (下頷面骨成骨不全 ): a rare inherited disorder characterized by distinctive abnormalities of the head and facial
(craniofacial) area due to underdevelopment (hypoplasia) of certain portions of the skull (e.g., supraorbital rims and zygomatic arches). Although the symptoms and
physical characteristics associated with Treacher Collins Syndrome can vary greatly in severity from patient to patient, craniofacial abnormalities tend to involve the
cheekbones, jaws, mouth, ears, and/or eyes. Craniofacial malformations associated with Treacher Collins Syndrome include underdeveloped (hypoplastic) or absent
cheek (malar) bones; an incompletely developed, abnormally small lower jaw (mandibular hypoplasia and micrognathia); an unusually large mouth (macrostomia);
malformations of the roof of the mouth (palate); and/or dental abnormalities such as misaligned teeth (malocclusion). Affected infants may also have underdeveloped
(hypoplastic) and/or malformed (dysplastic) ears (pinnae) with blind ending or absent external ear canals (microtia 外耳畸形), resulting in hearing impairment
(conductive hearing loss). In addition, infants with Treacher Collins Syndrome may exhibit abnormally downwardly slanted upper and lower eyelids (palpebral fissures), a
notching (colobomas) from the outer third of the lower eyelids, and/or additional eye (ocular) abnormalities, resulting in varying degrees of visual impairment in some
cases. Some individuals with the disorder have additional physical abnormalities. In approximately 40 percent of cases, Treacher Collins Syndrome is inherited as an
autosomal dominant 顯性 genetic trait, passed on by an affected parent. However, in about 60 percent of cases, a positive family history is not found. Such cases
represent new genetic changes (mutations) that occur randomly, with no apparent cause (sporadic).
Tremor : a rhythmic, involuntary muscular contraction characterized by oscillations (to-and-fro movements) of a part of the body. The most common of all involuntary
movements, tremor can affect various body parts such as the hands, head, facial structures, vocal cords, trunk, and legs; most tremors, however, occur in the hands.
Tremor often accompanies neurological disorders associated with aging. Although the disorder is not life-threatening, it can be responsible for functional disability and
social embarrassment.
There are some treatment options available for tremor; the appropriate treatment depends on accurate diagnosis of the cause. Some tremors respond to treatment of the
underlying condition, for example in some cases of hysterical tremor treating the patient's underlying mental problem may cause the tremor to disappear. Also, patients
with tremor due to Parkinson's disease may be treated with Levodopa drug therapy. Symptomatic drug therapy is available for several other tremors as well. For those

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 cases of tremor in which there is no effective drug treatment, physical measures such as teaching the patient to brace the affected limb during the tremor are sometimes
useful. Surgical intervention such as thalamotomy may be useful in certain cases.
There are many types of tremor and several ways in which tremor is classified. The most common classification is by behavioral context or position. There are five
categories of tremor within this classification: resting, postural, kinetic, task-specific, and hysterical. Resting or static tremor occurs when the muscle is at rest, for example
when the hands are lying on the lap. This type of tremor is often seen in patients with Parkinson's disease. Postural tremor occurs when a patient attempts to maintain
posture, such as holding the hands outstretched. Postural tremors include physiological tremor, essential tremor, tremor with basal ganglia disease (also seen in patients
with Parkinson's disease), cerebellar postural tremor, tremor with peripheral neuropathy, post-traumatic tremor, and alcoholic tremor. Kinetic or intention (action) tremor
occurs during purposeful movement, for example during finger-to-nose testing. Task-specific tremor appears when performing goal-oriented tasks such as handwriting,
speaking, or standing. This group consists of primary writing tremor, vocal tremor, and orthostatic tremor. Hysterical tremor (also called psychogenic tremor) occurs in both
older and younger patients. The key feature of this tremor is that it dramatically lessens or disappears when the patient is distracted.

Tricho Dento Osseous Syndrome (TDO) : a rare inherited multisystem disorder that belongs to a group of diseases known as ectodermal dysplasias. Ectodermal
dysplasias typically affect the hair, teeth, nails, and/or skin. TDO syndrome is characterized by kinky or curly hair; poorly developed tooth enamel; and unusual thickness
and/or denseness (sclerosis) of the top portion of the skull (calvaria) and/or the long bones (i.e., bones in the arms and legs). In some cases, affected individuals also
exhibit abnormally thin, brittle nails or premature closure (fusion) of the fibrous joints between certain bones in the skull (craniosynostosis), causing the head to appear
abnormally long and narrow (dolicocephaly). There may be three distinct types of TDO syndrome. Some researchers suggest that these variants may be differentiated
mainly by whether the calvaria and/or long bones exhibit abnormal hardening (sclerosis), thickening, and/or density. Other symptoms also vary among the three disorder
types. TDO syndrome is inherited as an autosomal dominant genetic trait.
Trichorhinophalangeal Syndrome Type I (TRPS1) 鼻咽翼狀裂: an extremely rare inherited multisystem disorder. TRPS1 is characterized by thin,
sparse scalp hair, unusual facial features, abnormalities of the fingers and/or toes, and multiple abnormalities of the "growing ends" (epiphyses) of the bones (skeletal
dysplasia), especially in the hands and feet. Characteristic facial features may include a rounded (bulbous) "pear-shaped" nose, an abnormally small jaw (micrognathia),
dental anomalies, and/or unusually large (prominent) ears. In most cases, the fingers and/or toes may be abnormally short (brachydactyly) and curved. In addition,
affected individuals may exhibit short stature. The range and severity of symptoms may vary from case to case. In most cases, Trichorhinophalangeal Syndrome Type I
has autosomal dominant inheritance.
Trichorhinophalangeal Syndrome Type II (TRPS2) : also known as Langer-Giedion Syndrome, is an extremely rare inherited multisystem disorder. TRPS2 is
characterized by fine, thin hair; unusual facial features; progressive growth retardation resulting in short stature (dwarfism); abnormally short fingers and toes
(brachydactyly); "cone-shaped" formation of the "growing ends" of certain bones (epiphyseal coning); and/or development of multiple bony growths (exostoses)
projecting outward from the surfaces of various bones of the body. In addition, affected individuals may exhibit unusually flexible (hyperextensible) joints, diminished
muscle tone (hypotonia), excess folds of skin (redundant skin), and/or discolored elevated spots on the skin (maculopapular nevi). Affected individuals may also exhibit
mild to severe mental retardation, hearing loss (sensorineural deafness), and/or delayed speech development. The range and severity of symptoms may vary from case
to case. Trichorhinophalangeal Syndrome Type II is due to the absence of genetic material (chromosomal deletions) on chromosome 8. The size of the deletion varies
from case to case.
Trichorhinophalangeal Syndrome Type III (TRPS3) : an extremely rare inherited multisystem disorder. TRPS3 is characterized by fine, thin light-colored hair;
unusual facial features; abnormalities of the fingers and/or toes; and multiple abnormalities of the "growing ends" (epiphyses) of the bones (skeletal dysplasia),
especially in the hands and feet. Characteristic facial features may include a pear-shaped or rounded (bulbous) nose; an abnormally long prominent groove (philtrum) in
the upper lip; and/or abnormalities such as delayed eruption of teeth. In addition, affected individuals also exhibit severe shortening of the fingers and toes
(brachydactyly) due to improper development of bones in the hands and feet (metacarpophalangeal shortening). Additional features often include short stature (dwarfism)
and/or additional skeletal abnormalities. The range and severity of symptoms may vary from case to case. Trichorhinophalangeal Syndrome Type III is thought to have
autosomal dominant inheritance.
Trichotillomania 拔毛癖 : a mental illness characterized by an overwhelming urge to pull out one's own hair. This results in patches of baldness; most often, areas on
the head and face are involved, such as eyelashes, eyebrows, beard, or scalp area. In some cases, affected individuals ingest the hair they have pulled out
(trichophagy).
Trigeminal Neuralgia 三叉神經痛 ( Tic Douloureux) : a condition that affects the trigeminal nerve (the 5th cranial nerve), one of the largest nerves in the
head. The trigeminal nerve is responsible for sending impulses of touch, pain, pressure, and temperature to the brain from the face, jaw, gums, forehead, and around the
eyes. Trigeminal neuralgia is characterized by a sudden, severe, electric shock-like or stabbing pain typically felt on one side of the jaw or cheek. The disorder is more
common in women than in men and rarely affects anyone younger than 50. The attacks of pain, which generally last several seconds and may be repeated one after the
other, may be triggered by talking, brushing teeth, touching the face, chewing, or swallowing. The attacks may come and go throughout the day and last for days, weeks,
or months at a time, and then disappear for months or years.
Treatment for trigeminal neuralgia typically includes anticonvulsant medications such as carbamazepine or phenytoin. Baclofen, clonazepam, and valproic acid may also
be effective and may be used in combination to achieve pain relief. If medication fails to relieve pain, surgical treatment may be recommended.
Fields, H. Treatment of Trigeminal Neuralgia [Editorial] in The New England Journal of Medicine, 334:17; 1125-1126 (April 1996)
Kitt, C.A., et al. Trigeminal Neuralgia: Opportunities for Research and Treatment Pain, 85:1-2; 3-7 (March 2000)
Loeser, J. Cranial Neuralgias In The Management of Pain, vol. 1, 2nd edition, Lea & Febiger, Philadelphia, pp. 676-686 (1990)
Maciewicz, R, and Scrivani, S. Trigeminal Neuralgia: Gamma Radiosurgery May Provide New Options for Treatment Neurology, 48; 565-566 (March 1997)
Trigeminal Neuralgia Surgical Neurology 45:5; 818-825 (May 1996)
Weigel, G, and Casey, K.F. Strike Back! The Trigeminal Neuralgia Handbook Gates Publishing, Co. (January 2000)
Trimethylaminuria 三甲基胺尿症: a very rare metabolic disorder that may be inherited as an autosomal dominant genetic trait. It may also be acquired as a result
of treatment with large doses of the amino acid derivative L-carnitine (levocarnitine). This disorder occurs when there is an impairment in the ability of a liver enzyme
(trimethylamine-N-oxide synthetase) to break down trimethylamine from choline and trimethylamine-oxide in the diet. When trimethylamine is not properly metabolized it
is excreted in the urine, sweat and breath, causing a strong fishy odor.
Triplo X Syndrome : a chromosomal disorder that affects females. Females normally have two X chromosomes; however, those with Triplo X Syndrome carry three X
chromosomes in the cells of their body (somatic). The symptoms and findings associated with the disorder vary greatly from case to case. Many affected females exhibit
very few symptoms, while others may have a variety of physical abnormalities and other findings. Females with Triplo X Syndrome tend to be of tall stature. In addition,
in some cases, malformations of the reproductive and urinary (genitourinary) tracts may be present. Some affected females may also have abnormalities of the head and
facial (craniofacial) area such as widely spaced eyes (ocular hypertelorism) and/or an abnormally short or small head (brachycephaly or microcephaly). In addition, other
findings associated with the disorder may include mild mental retardation, delayed speech and motor skills, and/or behavioral abnormalities. The cause of Triplo X
Syndrome is not completely understood.
Triploid Syndrome : an extremely rare chromosomal disorder. A complete extra set of chromosomes totaling sixty-nine, rather than the normal forty-six, is found in the
infant. Babies with Triploid Syndrome usually are lost through early miscarriage. However, some infants have been born and survived as long as five months. The infant
shows severely retarded fetal growth and many other prenatal abnormalities.
Trismus Pseudocamptodactyly Syndrome 假性趾彎曲導致牙關閉鎖: a very rare inherited disorder characterized by the inability to completely open
the mouth (trismus), causing difficulty with chewing (mastication) and/or the presence of abnormally short muscle-tendon units in the fingers, causing the fingers to curve
or bend (camptodactyly) when the hand is bent back at the wrist (dorsiflexion). Because the fingers are not permanently bent or curved, this particular finding is termed
"pseudocamptodactyly" (pseudo meaning false). In addition, the muscle-tendon units of the forearms and/or the legs may also be abnormally short, resulting in limited
movements and various deformities of the feet. Individuals with this disorder are slightly shorter than would otherwise be expected. The severity of these physical
findings varies from individual to individual. Trismus-Pseudocamptodactyly Syndrome is thought to be inherited as an autosomal dominant genetic trait.
Trisomy 三倍染色體( 2n+1 ) : are very rare genetic disorders characterized by a chromosome aberration. Chromosomes are found in the nucleus of all body cells.
They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y
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 chromosomes for males, and two X chromosomes for females. People with a Trisomy have an extra chromosome added to one of the normal pairs. Each chromosome
has a short arm that is designated "p" and a long arm identified by the letter "q." The triplication of the chromosome may be partial; i.e., with only a portion of the
chromosome duplicated. Defects are classified by the name of the abnormal chromosome pair and which portion of the chromosome is affected. For example, 22p+
means that there is an extra short arm added to the 22nd pair of chromosomes. In general, the most common symptom of the trisomies is mental retardation.
Trisomy 13 Syndrome 第 13 號染色體三倍徵候群: a rare chromosomal disorder in which all or a portion of chromosome 13 appears three times (trisomy)
rather than twice in cells of the body. In some affected individuals, only a percentage of cells may contain the extra 13th chromosome (mosaicism), whereas other cells
contain the normal chromosomal pair. In individuals with Trisomy 13 Syndrome, the range and severity of associated symptoms and findings may depend on the specific
location of the duplicated (trisomic) portion of chromosome 13--as well as the percentage of cells containing the abnormality. However, in many affected infants and
children, such abnormalities may include developmental delays, profound mental retardation, unusually small eyes (microphthalmia), an abnormal groove in the upper lip
(cleft lip), incomplete closure of the roof of the mouth (cleft palate), undescended testes (cryptorchidism) in affected males, and extra (supernumerary) fingers and toes
(polydactyly). Additional malformations of the head and facial (craniofacial) area may also be present, such as a relatively small head (microcephaly) with a sloping
forehead; a broad, flat nose; widely set eyes (ocular hypertelorism); vertical skin folds covering the eyes' inner corners (epicanthal folds); scalp defects; and malformed,
low-set ears. Affected infants may also have incomplete development of certain regions of the brain (e.g., the forebrain); kidney (renal) malformations; and structural
heart (cardiac) defects at birth (congenital). For example, characteristic heart defects may include an abnormal opening in the partition dividing the upper or lower
chambers of the heart (atrial or ventricular septal defects) or persistence of the fetal opening between the two major arteries (aorta, pulmonary artery) emerging from the
heart (patent ductus arteriosus). Many infants with Trisomy 13 Syndrome fail to grow and gain weight at the expected rate (failure to thrive) and have severe feeding
difficulties, diminished muscle tone (hypotonia), and episodes in which there is temporary cessation of spontaneous breathing (apnea). Life-threatening complications
may develop during infancy or early childhood.
Trisomy 18 Syndrome 第 18 號染色體三倍徵候群: a rare chromosomal disorder in which all or a critical region of chromosome 18 appears three times
(trisomy) rather than twice in cells of the body. In some cases, the chromosomal abnormality may be present in only a percentage of cells, whereas other cells contain
the normal chromosomal pair (mosaicism). Depending on the specific location of the duplicated (trisomic) portion of chromosome 18--as well as the percentage of
cells containing the abnormality--symptoms and findings may be extremely variable from case to case. However, in many affected infants, such abnormalities may
include growth deficiency, feeding and breathing difficulties, developmental delays, mental retardation, and, in affected males, undescended testes (cryptorchidism).
Individuals with Trisomy 18 Syndrome may also have distinctive malformations of the head and facial (craniofacial) area, such as a prominent back portion of the head;
low-set, malformed ears; an abnormally small jaw (micrognathia); a small mouth with an unusually narrow roof (palate); and an upturned nose. Affected infants may also
have narrow eyelid folds (palpebral fissures), widely spaced eyes (ocular hypertelorism), and drooping of the upper eyelids (ptosis). Malformations of the hands and feet
are also often present, including overlapped, flexed fingers; webbing of the second and third toes; and a deformity in which the heels are turned inward and the soles are
flexed (clubfeet [talipes equinovarus]). Infants with Trisomy 18 Syndrome may also have a small pelvis with limited movements of the hips, a short breastbone (sternum),
kidney malformations, and structural heart (cardiac) defects at birth (congenital). Such cardiac defects may include an abnormal opening in the partition dividing the
lower chambers of the heart (ventricular septal defect) or persistence of the fetal opening between the two major arteries (aorta, pulmonary artery) emerging from the
heart (patent ductus arteriosus). Congenital heart defects and respiratory difficulties may lead to potentially life-threatening complications during infancy or childhood.
Tropical Sprue 熱帶口瘡 : a rare digestive disease in which the small intestine's ability to absorb nutrients is impaired (malabsorption). Consequently, nutritional
deficiencies and abnormalities in the mucous lining of the small intestine may be present. The exact cause of this disorder is not known, however it may be related to
environmental and nutritional conditions in the tropical regions where it is most prevalent..
Truncus Arteriosus, Persistent 胎兒動脈幹: a major heart defect that is present at birth (congenital). The truncus arteriosus is a vascular structure present in
the developing fetus that normally divides into the aorta and pulmonary artery. In Persistent Truncus Arteriosus the structure fails to divide properly and is said to
"persist." Blood from both ventricles of the heart is mixed and affects blood flow to and from the heart and lungs. The delivery of oxygen to all parts of the body is
diminished. Persistent Truncus Arteriosus is usually associated with a ventricular septal defect. The most common life-threatening complication of this disorder in infancy
is congestive heart failure and extremely high blood pressure in the lungs (pulmonary hypertension), which may result in severe breathing difficulties (pulmonary
vascular obstructive disease).
Tuberculosis 肺結核 (TB) : an acute or chronic bacterial infection found most commonly in the lungs. The infection is spread like a cold, mainly through airborne
droplets breathed into the air by a person infected with TB. The bacteria causes formation of small tissue masses called tubercles. In the lungs these tubercles produce
breathing impairment, coughing and release of sputum. TB may recur after long periods of inactivity (latency) if not treated adequately. Many variations of TB exist and
are distinguished by the area of the body affected, degree of severity and affected population. This disease today is considered curable and preventable. It is very rare in
the United States but is on an upsurge.
Tuberous Sclerosis 硬化性結節: a rare genetic multisystem disorder that is typically apparent shortly after birth. The disorder may be characterized by episodes of
uncontrolled electrical activity in the brain (seizures); mental retardation; distinctive skin abnormalities (lesions); and benign (noncancerous), tumor-like nodules
(hamartomas) of the brain, certain regions of the eyes (e.g., retinas), the heart, the kidneys, the lungs, or other tissues or organs. In addition, many affected individuals
may have cyst-like areas within certain skeletal regions, particularly bones of the fingers and toes (phalanges). Characteristic skin lesions include sharply defined areas
of decreased skin coloration (hypopigmentation) that may develop during infancy and relatively small reddish nodules that may appear on the cheeks and nose
beginning at approximately age four. These reddish lesions eventually enlarge, blend together (coalesce), and develop a wart-like appearance (sebaceous adenomas).
Additional skin lesions may also develop, including flat, "coffee-colored" areas of increased skin pigmentation (caf� au-lait spots); benign, fibrous nodules (fibromas)
arising around or beneath the nails; or rough, elevated, "knobby" lesions (shagreen patches) on the lower back. Tuberous Sclerosis results from changes (mutations) in
a gene or genes that may occur spontaneously (sporadically) for unknown reasons or be inherited as an autosomal dominant trait. Most cases represent new (sporadic)
gene mutations, with no family history of the disease. Mutations of at least two different genes are known to cause Tuberous Sclerosis. One gene (TSC1) has been
mapped to the long arm (q) of chromosome 9 (9q34). A second gene for the disease (TSC2) is located on the short arm (p) of chromosome 16 (16p13.3). It remains
unclear whether some sporadic and familial cases of the disease may be caused by mutations of other, currently unidentified genes (genetic heterogeneity).
There is no specific treatment for tuberous sclerosis. Treatment is symptomatic and may include anticonvulsant therapy for seizures; dermabrasion and laser removal
techniques for the skin manifestations; drug therapy for neurobehavioral problems; treatment of high blood pressure caused by the kidney problems; and surgery to
remove growing tumors.
Goodman, M, Lamm, SH, Engel, A, et al. Cortical Tuber Count: A Biomarker Indicating Severity of Tuberous Sclerosis Complex. Journal of Child Neurology, 12 (2); 85-90
(February 1997).
National Tuberous Sclerosis Association, Inc. Perspective Newsletter. Landover, MD, Special Edition (Winter 1994).
Bradley, W, et al (eds). Neurology in Clinical Practice: Principles of Diagnosis and Management. vol. II, Butterworth-Heinemann, Boston, pp. 1327-1342 (1991).
Wyngaarden, J, et al (eds). Cecil Textbook of Medicine. 19th edition, W.B. Saunders Co., Philadelphia, p. 2143 (1992).
Roach, E, et. al. Diagnostic Criteria: Tuberous Sclerosis Complex. Journal of Child Neurology, 7; 221-224 (April 1992).
Roach, E. Neurocutaneous Syndromes. Pediatric Clinics of North America, 36:4; 591-620 (August 1992).
Provenzale, J, and Deluca, S. Tuberous Sclerosis. American Family Physician, 43:2; 470-472 (February 1991).
Turner Syndrome 生長和性發育遲緩(性染色體異常) : a rare chromosomal disorder of females characterized by short stature and the lack of sexual
development at puberty. Other physical features may include a webbed neck, heart defects, kidney abnormalities, and/or various other malformations. Normally, females
have two X chromosomes. In some cases of Turner Syndrome, however, one X chromosome is missing from the cells (45,X); research studies suggest that
approximately 40 percent of these individuals may have some Y chromosomal material in addition to the one X chromosome. In other affected females, both X
chromosomes may be present, but one may have genetic defects. In still other cases, some cells may have the normal pair of X chromosomes while other cells do not
(45,X/46,XX mosaicism). Although the exact cause of Turner Syndrome is not known, it is believed that the disorder may result from an error during the division (meiosis)
of a parent's sex cells.
Twin Twin Transfusion Syndrome (TTTS) : a rare disorder that sometimes occurs when women are pregnant with identical (monozygotic) twins. It is a rare
disease of the placenta, the organ that joins the mother to her offspring and provides nourishment to the developing fetuses. During the development of identical twins,
there are often blood vessels in the fetuses' shared placenta that connect their blood circulations (placental anastomoses). In most cases, the blood flows properly

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 through these vessels. However, in Twin-Twin Transfusion Syndrome, the blood begins to flow unevenly, with one fetal twin receiving too much blood (recipient) and one
receiving too little (donor). The recipient twin may experience heart failure due to continual strain on its heart and blood vessels (cardiovascular system). The donor twin,
on the other hand, may experience life-threatening anemia due to its inadequate supply of blood. Such an imbalance in blood flow (i.e., twin-twin transfusion) can occur
at any time during the pregnancy, including during delivery. The effects of Twin-Twin Transfusion Syndrome can vary in severity from case to case, depending upon
when during pregnancy the syndrome occurs, when it is diagnosed, and any treatment that may be given. The cause of Twin-Twin Transfusion Syndrome is not fully
understood, although it is known that placental characteristics play an important role.
Typhoid 傷寒熱 : a bacterial infection that is rare in the United States. However, it is not rare in many other countries. Major symptoms may include unusually high fever,
headache, loss of appetite, fatigue, abdominal pain and diarrhea.
Tyrosinemia, Hereditary 遺傳性酪氨酸血症 : a rare inborn error of metabolism involving the amino acid tyrosine associated with a lack of the enzyme
fumarylacetoacetase parahydroxyphenylpyruvic acid (p-HPPA) oxidase. The disorder is characterized by elevated levels of tyrosine and its metabolites (including
succinylacetone) in the urine. It causes developmental delay and profound liver dysfunction, kidney problems, and liver cell cancer. There are often neurologic problems
causing peripheral nerve palsy and paralysis.

U
ulcerative colitis 潰瘍性結腸炎 : a rare skin disorder that is a localized (cutaneous) form of Mastocytosis. Mast cells are specialized cells of connective tissue that
store substances such as histamine and heparin. When mast cells cluster and multiply excessively (prolifrate), histamine and heparin are released into the skin
(Mastocytosis). The characteristic skin lesions of Urticaria Pigmentosa appear in these areas. Urticaria Pigmentosa is generally benign and is usually self-limited. The
exact cause of the disease is not known, although some cases may be inherited.
Urticaria, Cholinergic : a disorder of the immune system characterized by an immediate skin reaction (hypersensitivity) to heat, emotional stress, and/or exercise.
Symptoms of the disorder include the appearance of distinctive small skin eruptions (hives) with well-defined borders and pale centers, surrounded by patches of red
skin (wheal-and-flare reaction). These red areas are typically intensely itchy (pruritus). Occasionally, Cholinergic Urticaria may be associated with systemic symptoms
such as fever and/or difficulty breathing. The symptoms of Cholinergic Urticaria may develop due to the reaction of specific immune system antibodies (IgE) to certain
antigens, leading to a hypersensitivity response (Type I) and the wheal-and-flare reaction that is typical of Cholinergic Urticaria.
Urticaria, Cold : a chronic, reactive skin disorder. It is probably the most common form of physical urticaria. Major symptoms may include abnormal reddening of the skin
(erythema), hives and itching after exposure of the skin to cold temperatures.
Urticaria, Papular 丘疹狀蕁麻疹 : more commonly known as "hives," is characterized by local elevated ridges (wheals) and redness (erythema) of the skin. This
condition is usually triggered by allergic reactions to insect bites, sensitivity to drugs, or other environmental causes. The first symptom of Papular Urticaria is usually
itching (pruritus), followed by the appearance of small or large wheals. In some cases, swelling of the soft tissues of the face, neck, and hands (angioedema) may also
occur. Papular Urticaria may be caused by drug allergies, insect stings or bites, desensitization injections (allergy shots), or ingestion of certain foods (particularly eggs,
shellfish, nuts, or fruits) by individuals who are allergic to these substances.
Urticaria, Physical : a condition in which red (erythematous) allergic skin lesions and itching (pruritus) are produced by exposure to cold temperatures, water, or mild
trauma. The disorder occurs most commonly in infants.
Usher syndrome: a rare inherited disorder primarily characterized by deafness due to an impaired ability of the auditory nerves to transmit sensory input to the brain
(sensorineual hearing loss) accompanied by retinitis pigmentosa, a disorder that causes progressive loss of vision. Researchers have identified three types of Usher
syndrome and debated the existence of a fourth type. The age at which the disorder appears along with the severity of symptoms distinguishes the different types of
Usher syndrome. Usher syndrome is inherited as an autosomal recessive genetic trait. The possible fourth type of Usher syndrome may be inherited as an X-linked
genetic trait.

V
VACTERL Association : an acronym for (V)ertebral anomalies, (A)nal atresia, congenital (C)ardiac disease, (T)racheo(E)sophageal fistula, (R)enal anomalies, radial
dysplasia, and other (L)imb defects. Abnormalities are present at birth. Symptoms occur in various combinations and can be manifestations of several recognized
disorders. Related disorders such as the VATER Association and the REAR Syndrome, which are composed of some of the same symptoms, have been expanded into
the VACTERL Association. Nearly all cases have occurred sporadically, although some familial cases have been identified. Occasionally, other abnormalities may
accompany this association of symptoms.
Valinemia 纈氨酸血症: a very rare metabolic disorder. It is characterized by elevated levels of the amino acid valine in the blood and urine caused by a deficiency of
the enzyme valine transaminase. This enzyme is needed in the breakdown (metabolism) of valine. Infants with valinemia usually have a lack of appetite, vomit frequently,
and fail to thrive. Low muscle tone (hypotonia) and hyperactivity also occur.
Varicella Zoster 水痘: an infectious disease caused by a common virus known as herpes virus. During childhood, the virus causes chickenpox (varicella), while, during
adulthood, it causes shingles (herpes zoster). Chickenpox is a highly contagious disease characterized by an itchy skin rash and fever. Chickenpox usually begins with
mild constitutional symptoms such as a mild headache, moderate fever and discomfort followed by an eruption appearing in itchy groups of flat or elevated spots and
blisters, which form crusts. Shingles is a painful localized recurrence of the skin rash during adulthood.
Vascular malformations of the brain 腦血管變型: are conditions that affect the blood vessels in the brain. They may be classified into four groups:
Arteriovenous Malformations (abnormal arteries and veins), Cavernous Malformations (enlarged blood-filled spaces), Venous Malformations (abnormal veins), and the
Telangiectasias (enlarged capillary-sized vessels). Symptoms and progression of these disorders vary with the type and severity of the malformations.
Vasculitis 血管炎 : an inflammation of blood vessels, which includes the veins, arteries, and capillaries.. In individuals with vasculitis, inflammation damages the lining
of affected blood vessels, causing narrowing, the formation of blood clots (thrombosis), and/or blockage. As a result, there may be restriction of oxygenated blood supply
to certain tissues (ischemia), potentially resulting in pain, tissue damage, and, in some cases, malfunction of certain affected organs. Vasculitis may affect veins and
arteries of any type or size; may involve a single organ or many organs and tissues of the body; and may be a primary disease process or occur due to or in association
with a number of different underlying disorders. Therefore, the range and severity of symptoms and findings associated with vasculitis may vary greatly. The disorder
may occur alone or with other disorders such as temporal arteritis. Temporal arteritis (also called cranial or giant cell arteritis) is an inflammation of the temporal artery
(which runs over the temple, beside the eye). Symptoms of this disorder may include stiffness, muscle pain, fever, severe headaches, pain when chewing, and
tenderness in the temple area. Other symptoms may include anemia, fatigue, weight loss, shaking, vision loss, and sweats.The specific underlying cause of vasculitis is
not fully understood. However, in most cases, it is thought to be due to disturbances of the body's immune system.
Treatment for vasculitis depends on the severity of the disorder and the individual's general health. Treatment may include cortisone or cytotoxic drugs. Other treatments
may include plasmapheresis (the removal and reinfusion of blood plasma), intravenous gammaglobulin, and cyclosporin. Some cases of vasculitis may not require
treatment. Treatment for temporal arteritis and its associated symptoms generally includes corticosteroid therapy. Early detection of temporal arteritis and immediate
treatment are essential to prevent vision loss.
Treatment for vasculitis depends on the severity of the disorder and the individual's general health. Treatment may include cortisone or cytotoxic drugs. Other treatments
may include plasmapheresis (the removal and reinfusion of blood plasma), intravenous gammaglobulin, and cyclosporin. Some cases of vasculitis may not require
treatment. Treatment for temporal arteritis and its associated symptoms generally includes corticosteroid therapy. Early detection of temporal arteritis and immediate
treatment are essential to prevent vision loss.
Fauci, A. The Vasculitis Syndromes In Harrison?s Principles of Internal Medicine, Vol. 2, 13th edition, McGraw-Hill Book Co., New York, pp. 1670-1679 (1994)
Gatenby, PA. Vasculitis-Diagnosis and Treatment Australian and New Zealand Journal of Medicine 29(5); 662-677 (1999)
Lee, AG, and Brazis, PW. Temporal Arteritis: A Clinical Approach Journal of the American Geriatric Society 47(11); 1364-1370 (1999)
Moore, PM. Central Nervous System Vasculitis Current Opinions in Neurology 11(3); 241-246 (1998)
Beers, MH, and Berkow, R (eds). The Merck Manual of Diagnosis and Therapy 17th edition, Merck Research Laboratories, Whitehouse Station, NJ, p. 437-439 (1999)

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Vasculitis, Cutaneous Necrotizing : characterized by inflammation and tissue damage (necrosis) of blood vessel walls and associated skin (cutaneous) lesions.
Cutaneous Necrotizing Vasculitis may be a primary disease process or occur due to or in association with a number of different underlying disorders (e.g., certain
infections, certain autoimmune disorders) or other factors (e.g., allergic reaction or hypersensitivity to certain medications, toxins, or inhaled environmental irritants).
Velocardiofacial Syndrome : a rare genetic disorder, is characterized by abnormalities of the head and facial (craniofacial) area, heart defects that are present at birth
(congenital heart defects), diminished muscle tone (hyptonia), mild small stature, mental retardation, slight delays in the acquisition of skills requiring the coordination of
mental and muscular activities (psychomotor retardation), and/or learning disabilities. Craniofacial malformations often associated with the disorder may include
incomplete closure of the roof of the mouth (cleft palate); an unusually small head (microcephaly); abnormally narrow, "almond-shaped" eyelid folds (palpebral fissues); a
prominent nose with a large, rounded (bulbous) tip; abnormally flattened cheek (malar) bones; and/or a small open mouth. The most common heart defect associated
with Velocardiofacial Syndrome is an abnormal opening in the fibrous partition (septum) that separates the heart's two lower chambers (ventricular septal defect).
Additional symptoms and findings often associated with the disorder may include eye (ocular) defects such as clouding of the lenses of the eyes (cataracts) and/or
abnormalities of blood vessels in the nerve-rich membranes lining the eyes (tortuous retinal vessels); abnormally thin fingers and hands; an underdeveloped or absent
thymus; and/or other abnormalities. (The thymus is a gland in the upper portion of the chest that plays a role in the body� s immune response until puberty.) The range
and severity of symptoms may vary greatly from case to case. Velocardiofacial Syndrome is inherited as an autosomal dominant genetic trait.
Ventricular septal defects 心室中膈缺損 : are heart defects that are present at birth (congenital). The normal heart has four chambers. The two upper
chambers, known as atria, are separated from each other by a fibrous partition known as the atrial septum. The two lower chambers are known as ventricles and are
separated from each other by the ventricular septum. Valves connect the atria (left and right) to their respective ventricles. The aorta, the main vessel of arterial
circulation, carries blood from the left ventricle and away from the heart. Ventricular septal defects can occur in any portion of the ventricular septum. The size and
location of the defect determine the severity of the symptoms. Small ventricular septal defects can close on their own (spontaneously) or become less significant as the
child matures and grows. Moderately-sized defects can cause congestive heart failure, which is characterized by an abnormally rapid rate of breathing (tachypnea),
wheezing, unusually fast heartbeat (tachycardia), enlarged liver (hepatomegaly), and/or failure to thrive. Large ventricular septal defects can cause life-threatening
complications during infancy. Persistent elevation of the pressure within the artery that carries blood away from the heart and to the lungs (pulmonary artery) can cause
permanent damage to the lungs. The exact cause of ventricular septal defects is not fully understood.
Vitamin B12 Deficiency : characterized by an abnormally low level of this vitamin in the blood. The disorder can be caused by a poor diet, inadequate absorption or
utilization of B12 such as following stomach and intestinal surgery and increase in certain intestinal organisms. The deficiency causes changes in the blood and the
central nervous system. Injection of this vitamin usually cures the disorder if the underlying cause can be corrected.
Vitamin E Deficiency : is extremely rare, except in people who have a disease that causes vitamin malabsorption. It is characterized by an abnormally low level of this
vitamin in the blood. Vitamin E Deficiency may lead to a rare, progressive neuromuscular disease that is characterized by loss of reflexes (areflexia), loss of balance and
impaired sensations. This disorder occurs most often in infants who have an impairment of their bile flow due to a disease.
Vitiligo 白班病 : a dermatological condition that is characterized by an absence of melanocytes (pigment-producing cells), causing decreased pigmentation in the skin.
Associated dermatological findings may vary from one or two spots to generalized depigmentation of the entire body.
Vogt-Koyanagi-Haranda syndrome (VKH) : a rare disease of unknown origin that affects many body systems such as the eyes, ears, skin, and the covering of the
brain and spinal cord (the meninges). The most noticeable symptom is a rapid loss of vision. There may also be neurological signs such as severe headache, vertigo,
nausea, and drowsiness. Loss of hearing, and loss of hair (alopecia) and skin color may occur along with whitening of the hair and eyelashes (poliosis).
Von Gierke disease (GSD I) 馮吉爾克市病( 肝醣貯積症第一型 ): Von Gierke Disease is a glycogen storage disease. This hereditary metabolic
disorder is caused by an inborn lack of the enzyme glucose-6-phosphatase. This enzyme is needed to convert the main carbohydrate storage material (glycogen) into
sugar (glucose), which the body uses for its energy needs. A deficiency causes deposits of excess glycogen in the liver and kidney cells.
Von Hippel-Lindau disease (VHL)邦希伯林達症 : a rare inherited multi-system disorder characterized by the abnormal growth of tumors of blood vessels in
certain parts of the body (angiomatosis). Very small blood vessels (capillaries) "knot 結節" together to form benign growths known as angiomas 血管瘤. The tumors of
the central nervous system (CNS) are benign and are comprised of a nest of blood vessels and are called hemangioblastomas (e.g. angiomas in the eye or
retinoangioma, cerebellar hemangioblastoma). Benign growths may also occur in other parts of the brain, spinal cord, the adrenal glands (pheochromocytoma), and
other parts of the body. The symptoms of von Hippel-Lindau Disease vary greatly and depend on the size and location of the growths. People with von Hippel-Lindau
Disease are also genetically predisposed to certain types of malignant tumors (i.e., renal cell carcinoma).再第三號染色體上，以顯性方式遺傳。本質上 VHL 基
因是一種腫瘤抑制基因；於正常細胞上抑制細胞脫序成長及複製；於腫瘤形成上扮演著守門員的角色。Symptoms may include headaches, problems
with balance and walking, dizziness, weakness of the limbs, vision problems, and high blood pressure. Cysts (fluid-filled sacs) and/or tumors (benign or cancerous) may
develop around the angiomas and cause the symptoms listed above. Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially
kidney cancer.
Treatment for VHL varies according to the location and size of the angiomas. In general, the objective of treatment is to treat the growths when they are small so that
they do not cause permanent problems by putting pressure on the brain or spine, blocking the flow of cerebrospinal fluid in the nervous system, or impairing vision.
Treatment of most cases of VHL usually involves surgery to remove the tumors before they become harmful. Certain tumors can be treated with focused high-dose
irradiation. Individuals with VHL need careful monitoring by a physician and/or medical team familiar with the disorder.
Treatment for VHL varies according to the location and size of the angiomas. In general, the objective of treatment is to treat the growths when they are small so that they
do not cause permanent problems by putting pressure on the brain or spine, blocking the flow of cerebrospinal fluid in the nervous system, or impairing vision. Treatment
of most cases of VHL usually involves surgery to remove the tumors before they become harmful. Certain tumors can be treated with focused high-dose irradiation.
Individuals with VHL need careful monitoring by a physician and/or medical team familiar with the disorder.
Bradley, W, et al (eds). Neurology in Clinical Practice: Principles of Diagnosis and Management, vol. II Butterworth-Heinemann, Boston, pp. 1332-1333 (1991)
Joynt, R (ed.) Clinical Neurology, vol. 3 J.B. Lippincott Co., Philadelphia, pp. 7, 39, 83 (1992)
Karsdorp, N, et al. von Hippel-Lindau Disease: New Strategies in Early Detection and Treatment. The American Journal of Medicine 97; 158-168 (August 1994)
Lesho, E. Recognition and Management of von Hippel-Lindau Disease. American Family Physician 50:6; 1269-1272 (November 1, 1994)
Martz, C. von Hippel-Lindau Disease: A Genetic Condition Predisposing Tumor Formation. Oncology Nursing Forum 18:3; 545-551 (1991)
Von Willebrand disease 凝血因子缺陷: a hereditary blood clotting disorder characterized by prolonged bleeding. Blood clotting is slowed due to a deficiency of
the von Willebrand factor protein and factor VIII protein (the factor VIII complex). Also, platelets do not stick normally causing excessively slow clotting time. Increased
risk of excessive bleeding following surgery, dental procedures or injury occurs in individuals with this disorder. The tendency to prolonged bleeding usually decreases
with age.
Vulvovaginitis 陰道炎: a common bacterial infection characterized by the simultaneous inflammation of the external parts of the female genital organs (vulva) and the
canal that leads from the uterus to the external opening (vagina). It is one of the most frequent causes of genital symptoms in women. When only the vagina is inflamed,
the disorder is called vaginitis. The symptoms and treatments of Vulvovaginitis depend on the specific bacteria that caused the disorder. The most common types of
vulvovaginitis are Genital Candidiasis (also called Yeast Infection), Trichomoniasis, and Nonspecific Vaginitis (also called Haemophilus Vaginalis Vaginitis, Bacterial
Vaginitis or Gardnerella Vaginalis Vaginitis). Some types of vulvovaginitis are rarer than others. Vulvovaginitis occurs when the normal acid/alkaline balance of the vagina
is disturbed. Yeast, fungi and other harmful organisms that are normally present may grow in excessive amounts causing infection of the vaginal walls.

W
Waardenburg Syndrome : a hereditary disorder characterized by facial abnormalities. The inner folds of the eyelids or the tear duct may be displaced, congenital nerve
deafness may occur, and often abnormal pigmentation of the iris of the eye, the skin, and/or the hair may be present. Type I of this disorder is characterized by
displacement of the fold of the eyelid, while type II does not include this feature. However, the frequency of deafness is higher in type II of the disorder.
WAGR Syndrome : a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or
mental retardation. "WAGR" is an acronym for the characteristic abnormalities associated with the syndrome. The acronym stands for (W)ilms' Tumor, the most common

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 form of kidney cancer in children; (A)niridia, partial or complete absence of the colored region of the eye(s) (iris or irides); (G)onadoblastoma, cancer of the cells that
form the testes in males or the ovaries in females (gonads); and Mental (R)etardation. A combination of two or more of these conditions must be present for an individual
to be diagnosed with WAGR Syndrome. The clinical picture varies, depending upon the combination of associated abnormalities. The only feature that has been present
in all documented cases of WAGR Syndrome, with only one known exception, is Aniridia. WAGR Syndrome is caused by defects (mutations) of adjacent genes on a
region of chromosome 11 (11p13). In most cases, such genetic changes (e.g., deletions at band 11p13) occur spontaneously during early embryonic development (de
novo) for unknown reasons (sporadic).
Waldenstrom's Macroglobulinemia : a malignant lymph and blood cell disorder. Large quantities of homogeneous immunoglobulin-M (IgM) protein molecules are
present in the blood. The disorder tends to run in families, occurring mainly among older males. An enlarged spleen and liver with abnormalities of the peripheral lymph
glands are the most frequent symptoms. Weakness, anemia, fatigue and excessive bleeding, especially from the nose and mouth, also occur.
Waldmann Disease : a rare digestive disorder characterized by abnormally enlarged (dilatation) lymph vessels supplying the lining (lamina propria) of the small intestine.
The main symptoms are abdominal discomfort and swelling of the limbs. The disorder may be present at birth (congenital) or acquired.
Walker Warburg Syndrome : a rare disorder that is inherited as an autosomal recessive genetic trait. Walker-Warburg Syndrome is also known as HARD +/-E
Syndrome, which is an acronym for (H)ydrocephalus, (A)gyria, (R)etinal (D)ysplasia and, in some cases, (E)ncephalocele. The most consistent features of this disorder
are a lack of normal folds of the brain (lissencephaly), malformations of the back portion of the brain (cerebellum), abnormalities of the retina of the eye, and progressive
degeneration and weakness of the voluntary muscles (congenital muscular dystrophy).
Wandering Spleen : a very rare birth defect characterized by the absence or underdevelopment of one or all of the ligaments that hold the spleen in its normal position in
the upper left abdomen. The spleen may "wander" in the lower abdomen or pelvis and be mistaken for an unidentified abdominal mass. The symptoms of Wandering
Spleen are typically related to abnormal enlargement of the spleen (splenomegaly) or the unusual position of the spleen in the abdomen. Enlargement may be due to the
twisting (torsion) of the splenic arteries and veins or, in some cases, the formation of a blood clot (infarct) in the spleen. Symptoms of Wandering Spleen may include
abdominal pain and discomfort, nausea, vomiting, fatigue, frequent urination, and/or menstrual abnormalities. "Acquired" Wandering Spleen may occur during adulthood
due to injuries or other underlying conditions that may weaken the ligaments that hold the spleen in its normal position (e.g., connective tissue disease or pregnancy).
Weaver Syndrome : characterized by rapid growth. Usually starting before birth (prenatal onset), physical growth and bone development (maturation) can occur more
quickly than average. Other symptoms can include increased muscle tone (hypertonia) with exaggerated reflexes (spasticity), slow development of voluntary movements
(psychomotor retardation), specific physical characteristics, and/or foot deformities. Babies with this syndrome have a hoarse low-pitched cry.
Wegener's Granulomatosis : an uncommon collagen vascular disorder that usually begins as a localized inflammation of the upper and lower respiratory tract mucosa,
and usually progresses into generalized inflammation of the blood vessels (vasculitis) and kidney (glomerulonephritis). Other symptoms may include ulcerations of the
mucous membranes in the nose with secondary bacterial infection, middle ear infection (otitis media) with hearing loss, cough, expectoration of blood (hemoptysis), and
inflammation of the thin membrane lining the outside of the lungs and the inside of the lung. The exact cause of Wegener's Granulomatosis is not known.
Weil Syndrome : a rare infectious disorder, is a severe form of bacterial infection caused by Leptospira bacteria (Leptospirosis). Weil Syndrome is characterized by
dysfunction of the kidneys and liver, abnormal enlargement of the liver (hepatomegaly), persistent yellowing of the skin, mucous membranes, and whites of the eyes
(jaundice), and/or alterations in consciousness. In most cases, Weil Syndrome occurs among individuals who are exposed to affected animals.
Weill Marchesani Syndrome : a rare genetic disorder inherited as an autosomal recessive trait. The major features of this disorder are short stature and a congenital
vision defect in which the lens of the eye is unusually rounded and may dislocate.
Weismann Netter Stuhl Syndrome : an extremely rare inherited skeletal disorder characterized by the abnormal development of bone (osseous dysplasia). Affected
individuals exhibit bowing of the long portions (shafts) of the shin bone (tibia) and the outer, smaller bone of the leg below the knee (fibula). In some individuals, other
bones may also be affected, such as the ribs, pelvis, spinal column, and/or bones in the arms. The primary characteristic of Weismann-Netter-Stuhl Syndrome is short
stature (dwarfism). In most cases, this disorder is thought to be inherited as an autosomal dominant genetic trait.
Wells Syndrome : a rare skin disorder. It is characterized by raised, red, swollen, and warm areas of skin in a flame-shaped pattern with associated pain. The exact cause
of the disease is unknown. However, bites of spiders, bees, mites, fleas, or ticks (arthropods) are often associated with this skin condition.
Werdnig Hoffman Disease : a rare progressive neuromuscular disorder of infancy. Also known as Infantile Spinal Muscular Atrophy (SMA) Type I, the disorder is
characterized by degeneration of groups of nerve cells (motor nuclei) within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord
(anterior horn cells). Motor neurons are nerve cells that transmit nerve impulses from the spinal cord or brain (central nervous system) to muscle or glandular tissue. In
some cases, disease onset may occur during fetal development (in utero) or may be apparent at birth (congenital). In others, the disorder becomes evident during the
first months or the first or second year of life. For those with fetal or congenital onset, characteristic findings include severely diminished muscle tone (hypotonia) or
"floppiness" at birth, generalized weakness, wasting (atrophy) of voluntary muscles, and absence of muscle stretch reflexes. For infants who appear to develop normally
during the first months of life, muscles of the pelvic, trunk, and shoulder areas may initially appear to be disproportionately affected. With disease progression,
diminished muscle tone and weakness may gradually spread to affect almost all voluntary muscles, with the exception of certain muscles controlling movements of the
eyes. Infants with Werdnig-Hoffmann Disease may lack head control, may be unable to roll over or support their weight, and tend to lie relatively still, with little or no
movement (flaccid paralysis). In addition, they may develop difficulties sucking, swallowing, and breathing; have an increased susceptibility to respiratory infections; or
develop other complications that may lead to potentially life-threatening abnormalities within the first months or years of life. For infants who appear to have normal
development for several months prior to the onset of muscle weakness, the disorder may tend to have a more slowly progressive course. In most affected individuals,
Werdnig-Hoffmann Disease appears to be inherited as an autosomal recessive trait. The disorder is caused by changes (mutations) of a gene or genes located on the
long arm (q) of chromosome 5 (5q12.2-q13.3). According to investigators, Werdnig-Hoffmann Disease often appears to result from deletion or mutation of a gene known
as SMN1 (for "survival motor neuron"). In addition, some severely affected individuals also have deletion or mutation of a second, neighboring gene called NAIP (for
"neuronal apoptosis inhibitory protein").
Werner Syndrome 華納症: a rare progressive disorder that is characterized by the appearance of unusually accelerated aging (progeria 老化). Although the disorder
is typically recognized by the third or fourth decades of life, certain characteristic findings are present beginning during childhood, adolescence, and early adulthood.
Children with Werner Syndrome have an abnormally slow growth rate, and there is cessation of growth at puberty. As a result, affected individuals have unusually short
stature and low weight even relative to height. By age 25, those with the disorder typically experience early graying (canities) and premature loss of scalp hair (alopecia).
As the disease progresses, additional abnormalities include loss of the layer of fat beneath the skin (subcutaneous adipose tissue); severe wasting (atrophy) of muscle
tissue in certain areas of the body; and degenerative skin changes, particularly in the facial area, the upper arms and hands, and the lower legs and feet (distal
extremities). Due to degenerative changes affecting the facial area, individuals with Werner Syndrome may have unusually prominent eyes, a beaked or pinched nose,
and/or other characteristic facial abnormalities. Werner Syndrome may also be characterized by development of a distinctive high-pitched voice; eye abnormalities,
including premature clouding of the lenses of the eyes due to aging (bilateral senile cataracts); and certain endocrine defects, such as impaired functioning of the ovaries
in females or testes in males (hypogonadism) or abnormal production of the hormone insulin by the pancreas and resistance to the effects of insulin
(non-insulin-dependent diabetes mellitus). In addition, individuals with Werner Syndrome develop progressive thickening and loss of elasticity of artery walls
(arteriosclerosis). Affected blood vessels typically include the arteries that transport oxygen-rich (oxygenated) blood to heart muscle (coronary arteries). Some affected
individuals may also be susceptible to developing certain benign (noncancerous) or malignant tumors. Progressive arteriosclerosis, malignancies, and/or associated
abnormalities may result in potentially life-threatening complications by approximately the fourth or fifth decade of life. Werner Syndrome is inherited as an autosomal
recessive trait ( 治病基因 WRN( 為 RecQ 基因家族之一員具有 helicase 的功能)在第八號染色體上).
West Syndrome (Infantile spasm ): a rare form of infantile spasm (IS ) that occurs very early in the development of an infant. The onset is predominantly in the first
year of life. Unusual brain wave patterns occur (hypsarrhythmia) and possibly mental retardation. Characteristic features of IS, sometimes called West syndrome, include
myoclonic seizures, hypsarrhythmia (abnormal, chaotic electroencephalogram), and mental retardation. The spasms are described as sudden, brief contractions of one
or more muscle groups, and may be followed by a longer (less than 10 seconds) tonic phase. Most often the spasms occur in clusters during which the intensity or the
frequency of the spasms may increase progressively to a peak, decline, or cease. The clusters tend to occur soon after arousal from sleep. They are not a feature of
falling asleep. The spasms usually involve the muscles of the neck, trunk, and extremities.The spasms that occur may range from violent jackknife or "salaam"
movements where the whole body bends in half, or they may be no more than a mild twitching of the nose or mouth. These spasms usually begin in the early months
after birth and can often be helped with medication. There may be many different causes for the spasms. Neurological abnormalities other than seizures and

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 retardation--such as cerebral atrophy, congenital abnormalities and hydrocephalus--are commonly reported among patients with IS.Neurological testing will be helpful in
determining the cause.
Some patients may be treated successfully with either ACTH (adrenocorticotrophic hormone) or prednisone. Newer antiepileptic medications, such as vigabatrin, and
occasionally surgical resection of a seizure focus which triggers the spasms, may be useful in selected patients.
Aicardi, J. Infantile Spasms. In Epilepsy in Children, 2nd edition, Raven Press, New York (1994).
Kolodgie, M. Home Care Management of the Child With Infantile Spasms. Pediatric Nursing, 20:3; 259, 270-273 (May-June 1994).
Haines, S, and Casto, D. Treatment of Infantile Spasms. Annals of Pharmacotherapy, 28; 779-791 (June 1994).
Dulac, O, Plovin, P. Cryptogenic/Idiopathic West Syndrome. In: Dulac, O, Chugani, YD, DallaBernadine, B, eds. Infantile Spasms and West Syndrome. London, WB
Saunders, (1994).
Hrachovy, R, and Frost, J. Severe Encephalopathic Epilepsy in Infants: Infantile Spasms. In Childhood Epilepsy and Its Treatment, Demos, New York, NY, pp. 135-145
(1993).
Bobele, G, and Bodensteiner, J. Infantile Spasms. Neurologic Clinics, 8:3; 633-645 (August 1990).
Hrachovy, R, and Frost, J. Infantile Spasms. Pediatric Clinics of North America, 36; 311-329 (1989).
Whipple's Disease : a rare infectious disease that causes an abnormality in the metabolism and/or usage of fats (lipodystrophy) in the small intestine (localized)
characterized by impairment of the ability to properly absorb nutrients (malabsorption), anemia, and joint pain. This disorder may also affect other organs of the body
including the heart, lungs, brain, and eyes.
Wieacker Syndrome : a rare genetic disorder characterized by deformities of the feet (contracture), muscle atrophy, mild mental retardation and an impaired ability to
move certain muscles of the eyes, face and tongue. Wieacker Syndrome is inherited as an X-linked recessive trait.
Wiedemann Rautenstrauch Syndrome also known as Neonatal Progeroid Syndrome: an extremely rare genetic disorder characterized by an aged
appearance at birth (neonatal progeroid appearance); growth delays before and after birth (prenatal and postnatal growth retardation); and deficiency or absence of the
layer of fat under the skin (subcutaneous lipoatrophy), causing the skin to appear abnormally thin, fragile, and wrinkled. In addition, for reasons that are not understood,
abnormal deposits of fat may accumulate around the buttocks, the areas around the genitals and the anus (anogenital area), and the area between the ribs and the hips
(flanks). Affected infants and children also have distinctive malformations of the head and facial (craniofacial) area including an unusually prominent forehead (frontal
bossing) and sides of the skull (parietal bossing), causing the head to appear abnormally large (pseudohydrocephalus); unusually small, underdeveloped (hypoplastic)
bones of the face and abnormally small facial features; a small "beak-shaped" nose that becomes more pronounced with advancing age; and/or sparse scalp hair,
eyebrows, and/or eyelashes. Most infants and children with Wiedemann-Rautenstrauch Syndrome also have unusually thin arms and legs; abnormally large hands and
feet; progressive neurological and neuromuscular abnormalities; varying degrees of mental retardation; and severe delays in the acquisition of skills requiring the
coordination of mental and muscular activities (psychomotor retardation). In addition, in many cases, affected infants and children are prone to repeated respiratory
infections that may result in life-threatening complications. Wiedemann-Rautenstrauch Syndrome is inherited as an autosomal recessive genetic trait.
Wildervanck Syndrome : a rare, congenital disorder characterized by hearing loss in which there is distortion of sound (sensorineural deafness) and fusion of certain
bones of the spinal column within the neck (cervical vertebrae) and, in some cases, the upper back (thoracic vertebrae), resulting in limited motion of the neck or upper
spine (Klippel-Feil Syndrome). There may also be limited movement of the eye causing difficulty in focusing (Duane Syndrome).
Williams Syndrome 威廉氏症( 妖精容顏症 ) : also known as Williams-Beuren Syndrome, is a rare genetic disorder characterized by growth delays before
and after birth (prenatal and postnatal growth retardation), short stature, varying levels of mental deficiency, and distinctive facial abnormalities that typically become
more pronounced with age. Characteristic facial features may include a round face, full cheeks, thick lips, a large mouth that is usually held open, and a broad nasal
bridge with nostrils that flare forward (anteverted nares). Affected individuals may also have unusually short eyelid folds (palpebral fissures), flared eyebrows, a small
lower jaw (mandible), and prominent ears. Dental abnormalities may also be present including abnormally small, underdeveloped teeth (hypodontia) with small, slender
roots. Williams Syndrome may also be associated with heart (cardiac) defects, abnormally increased levels of calcium in the blood during infancy (infantile
hypercalcemia), musculoskeletal defects, and/or other abnormalities. Cardiac defects may include obstruction of proper blood flow from the lower right chamber
(ventricle) of the heart to the lungs (pulmonary stenosis) or abnormal narrowing above the valve in the heart between the left ventricle and the main artery of the body
(supravalvular aortic stenosis). Musculoskeletal abnormalities associated with Williams Syndrome may include depression of the breastbone (pectus excavatum),
abnormal curvature of the spine (scoliosis or kyphosis), or an awkward gait. In addition, most affected individuals have mild to moderate mental retardation; poor
visual-motor integration skills; a friendly, outgoing, talkative manner of speech; and a short attention span with easy distractability. In most individuals with Williams
Syndrome, the disorder appears to occur spontaneously for unknown reasons (sporadically). However, familial cases have also been reported. Sporadic and familial
cases are thought to result from deletion of genetic material ( elestin, KIM kinase )from adjacent genes (contiguous genes) within a specific region of chromosome 7
(7q11.23).

Wilms' Tumor : the most common form of kidney cancer in children, accounting for six to eight percent of all childhood cancers. The exact cause is not known, although it
is thought to be inherited in some cases. An abdominal swelling is the most common symptom usually leading to early detection of the disease. Wilms' Tumor can often
be treated successfully depending on the stage of the tumor at detection and the age and general health of the child.
Wilson's Disease 威爾森氏症 : a rare genetic disorder characterized by excess copper stored in various body tissues, particularly the liver ( Cu accumlat in
lysosome ) , brain (hepato-lenticular neuropathy ), and corneas of the eyes( kayser-Fleischer green-brown ring ). It s caused by mutations in a P-type ATPase ( ATP7B
gene in chromosone 13 ) and is associated with copper deposition in liver and brain. The WD protein is present in the trans-Golgi network and may also be imported into
mitochondria. The WD protein functions as a P-type copper transporting ATPase in the Golgi but any action in mitochondria is at present unknown. There was evidence
of severe mitochondrial dysfunction in the livers of patients with WD. These defects did not seem to be secondary to penicillamine use, cholestasis, or poor
hepatocellular synthetic function. The results show that there is a defect of energy metabolism in WD. The pattern of enzyme defects suggests that free-radical formation
and oxidative damage, probably mediated via mitochondrial copper accumulation, are important in WD pathogenesis. These results provide a rationale for a study of the
use of antioxidants in WD. The disease is progressive and, if left untreated, it may cause liver (hepatic) disease, central nervous system dysfunction, and death. Early
diagnosis and treatment may prevent serious long-term disability and life threatening complications.
Treatment of Wilson's disease generally consists of anti-copper agents to remove excess copper from the body and to prevent it from reaccumulating. Most cases are
treated with the drugs zinc acetate, trientine, or penicillamine. Penicillamine and trientine increase urinary excretion of copper, however, both drugs can cause serious
side effects. Zinc acetate - which blocks the absorption of copper, increases copper excretion in the stool, and causes no serious side affects - is often considered the
treatment of choice. Tetrathiomolybdate, an experimental drug, also shows promise in treating Wilson's disease. In rare cases in which there is severe liver disease, a
liver transplant may be needed.
Gu, M; Cooper, J M; Butler, P; Walker, A P; Mistry, P K; Dooley, J S; Schapira, A H V . Oxidative-phosphorylation defects in liver of patients with Wilson’s disease.
Lancet 356: 469-477, 2000
Winchester Syndrome : a very rare disorder believed by some scientists to be closely related to the mucopolysaccharidoses, which is a group of hereditary lysosomal
storage disorders. Major symptoms of Winchester Syndrome may include short stature, arthritis-like symptoms, and eye and skin abnormalities.
Wiskott Aldrich Syndrome (WAS) : a rare inherited disorder that may be characterized by recurrent infections due to defects in the immune system (i.e., partial
defects in T lymphocyte and B lymphocyte systems [combined immunodeficiency]); abnormal bleeding caused by a deficiency in circulating blood platelets
(thrombocytopenia); a high incidence of "autoimmune-like" symptoms; and the presence of scaling, itchy skin rashes (eczema) that may be mild in some affected
individuals and severe in others. The range and severity of symptoms and physical features associated with the disorder may vary greatly from case to case. Because
Wiskott-Aldrich Syndrome is inherited as an X-linked recessive genetic trait, the disorder is usually fully expressed in males only.
Wolf Hirschhorn Syndrome : an extremely rare chromosomal disorder caused by a partial deletion (monosomy) of the short arm ("p") of chromosome 4. Major
symptoms may include extremely wide-set eyes (ocular hypertelorism) with a broad or beaked nose, a small head (microcephaly), low-set malformed ears, mental and
growth deficiency, heart (cardiac) defects, and seizures.
Wolff Parkinson White Syndrome : a rare disorder involving irregularities in the heartbeat (cardiac arrhythmia). Patients have an extra circuit or pathway, called the
Bundle of Kent, through which electrical signals are conducted to the heart, allowing excessive stimulation. Palpitations (sensation of rapid or irregular beating of the
heart), weakness, and shortness of breath may occur.
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Wolfram Syndrome : a rare, congenital, multisystem disorder believed to be caused by both mitochondrial and nuclear gene dysfunction. Diabetes insipidus, diabetes
mellitus, and vision and hearing defects are the main symptoms associated with this syndrome. Disorders of the urinary tract are also often present. Wolfram Syndrome
affects males and females equally and may be inherited as a autosomal recessive trait.
Wyburn Mason Syndrome : a rare genetic disorder that usually affects the brain, eyes and skin. Major symptoms may include discolored patches on the skin, and
ballooned areas in the arteries (aneurysms) of the brain and eyes.

X
X-linked juvenile retinoschisis (RS) X 染色體相關之青春型視網膜柱裂: a genetic disorder affecting males. Major symptoms may include poor
eyesight and degeneration of the retina. The retina consists of membrane layers in the eye that receive visual images. It is composed of supportive and protective
structures, nervous system components and layers including "rods" and "cones." RS is due to splitting of the retina, which, in turn, causes slow, progressive loss of parts
of the fields of vision corresponding to the areas of the retina that have become split. Often, RS is associated with the development of cysts (sac-like blisters) in the
retina.
X-linked lymphoproliferative syndrome (XLP) : an extremely rare inherited (primary) immunodeficiency disorder characterized by a defective immune system
response to infection with the Epstein-Barr virus (EBV). This herpes virus is common among the general population and causes infectious mononucleosis (IM), usually
with no long-lasting effects. However, in individuals with X-Linked Lymphoproliferative Syndrome, exposure to EBV may result in severe, life-threatening infectious
mononucleosis; abnormally low levels of antibodies in the blood and body secretions (hypogammaglobulinemia), resulting in increased susceptibility to various infections;
malignancies of certain types of lymphoid tissue (B-cell lymphomas); and/or other abnormalities. The range of symptoms and findings associated with XLP may vary
from case to case. In addition, the range of effects may change in an affected individual over time. In most cases, individuals with XLP experience an onset of symptoms
anytime from approximately six months to 10 years of age. Approximately half of individuals with X-linked Lymphoproliferative Syndrome experience severe,
life-threatening mononucleosis characterized by fever, inflammation and soreness of the throat (pharyngitis), swollen lymph glands, enlargement of the spleen
(splenomegaly), enlargement of the liver (hepatomegaly), and/or abnormal functioning of the liver, resulting in yellowing of the skin, mucous membranes, and whites of
the eyes (jaundice or icterus). In some cases, individuals who experience life-threatening mononucleosis infection may subsequently have an abnormal increase (i.e.,
proliferation) of certain white blood cells (lymphocytes and histiocytes) in particular organs, severe liver damage and/or failure, damage to the blood-cell generating bone
marrow (hematopoietic marrow cells) that may result in aplastic anemia, and/or other symptoms that may result in life-threatening complications in affected children or
adults. Aplastic anemia is characterized by a marked deficiency of all types of blood cells (pancytopenia) including low levels of red blood cells, certain white blood cells,
and platelets, specialized red blood cells that function to assist appropriate blood clotting. In individuals with XLP, a decrease in platelets (thrombocytopenia) results in
increased susceptibility to bruising and excessive bleeding (hemorrhaging). Because X-linked Lymphoproliferative Syndrome is inherited as an X-linked recessive
genetic trait, the disorder is usually fully expressed in males only.
Xeroderma pigmentosum 著色性乾皮症 (XP) : a group of rare inherited skin disorders characterized by a heightened reaction to sunlight (photosensitivity)
with skin blistering occurring after exposure to the sun. In some cases, pain and blistering may occur immediately after contact with sunlight. Acute sunburn and
persistent redness or inflammation of the skin (erythema) are also early symptoms of XP. In most cases, these symptoms may be apparent immediately after birth or
occur within the next three years. In other cases, symptoms may not develop until later in childhood or, more rarely, may not be recognized until adulthood. Other
symptoms of XP may include discolorations, weakness and fragility, and/or scarring of the skin. Xeroderma pigmentosum affects the eyes as well as the skin, has
been associated with several forms of skin cancer, and, in some cases, may occur along with dwarfism, mental retardation, and/or delayed development. Several
subtypes of XP (i.e., XP complementation groups) have been identified, based upon different defects in the body� s ability to repair DNA damaged by ultraviolet light (UV).
According to the medical literature, the symptoms and findings associated with the classic form of xeroderma pigmentosum, known as XP, type A (XPA), may also occur
in association with the other XP subtypes. These include: XP, type B (XPB); XP, type C (XPC); XP, type D (XPD); XP, type E (XPE); XP, type F (XPF); and XP, type G
(XPG). These XP subtypes are transmitted as an autosomal recessive trait. In addition, another subtype of the disorder, known as XP, dominant type, has autosomal
dominant inheritance. In addition to the XP subtypes discussed above, researchers have identified another form of the disorder known as XP, variant type (XP-V). As
with the other XP subtypes, symptoms and findings associated with the classic form of XP may also be seen in individuals with XP-V. XP-V cells have a normal or near
normal ability to repair UV-induced DNA damage (nucleotide excisional repair); however, they are defective in replicating UV-damaged DNA during the division and
reproduction of cells. Although the disorder� s mode of inheritance is unknown, most researchers suspect that XP-V is transmitted as an autosomal recessive trait.
XYY syndrome : a rare chromosomal disorder that affects males. It is caused by the presence of an extra Y chromosome. Males normally have one X and one Y
chromosome. However, individuals with this syndrome have one X and two Y chromosome. Affected individuals are usually very tall and thin. Many experience severe
acne during adolescence. Other symptoms may include lower than average intelligence and antisocial or behavioral problems.

Y
Yaws 莓疹 : an infectious tropical disease caused by the bacterium Treponema pertenue. Yaws has 3 stages of symptoms. Stage 1 Yaws is characterized by the eruption
of sores on the skin. The symptoms of Stage 2 and Stage 3 Yaws may involve the bones, joints, and/or skin. Stage 2 Yaws is also known as Gangosa Syndrome (Ogo,
or Rhinopharyngitis Mutilans); Stage 3 Yaws is also called Goundou Syndrome (Henpue, Henpuye, Gundo, or Anakhre). Yaws is prevalent in tropical areas of the world
but rare in the United States.
Yellow fever 黃熱病 : a viral infection that causes damage to the liver, kidney, heart and gastrointestinal tract. Major symptoms may include sudden onset of fever,
yellowing of the skin (jaundice) and hemorrhage. It occurs predominately in South America, the Caribbean Islands and Africa. The disease is spread through bites of
infected mosquitos. Incidence of the disease tends to increase in the summer as the mosquito population increases, and it occurs year round in tropical climates. Yellow
Fever has two cycles: the sylvan cycle in which mosquitos primarily spread the disease among forest-dwelling primates, and the urban cycle in which the infection is
spread from human to human.
Yellow nail syndrome : a very rare disorder involving a combination of lymphedema (swelling) of the lower extremities, recurrent pneumonia, bronchiectasis, and
yellowed nails. Most patients have disease of the lower lobe of the lung which may be due to obstruction and/or infection. (Bronchiectasis is an irreversible enlargement
of one or more of the bronchi due to the destruction of the muscular and elastic supporting tissues.
Yersinia pestis disease : an extremely rare inherited multisystem disorder with defects affecting the skeletal; ectodermal tissue (i.e., nails, hair, and teeth); and
cardiorespiratory (i.e., heart and lungs) systems. It is characterized by growth retardation prior to and after birth; defective growth of the bones of the skull along with
complete or partial absence of the shoulder blades (cleidocranial dysplasia); characteristic facial features; and/or abnormalities of the fingers and/or toes. Characteristic
facial features may include an extremely small jaw (micrognathia), thin lips, sparse or absent eyebrows and/or eyelashes, and/or an unusually short vertical groove
(philtrum) in the upper lip. Abnormalities of the fingers and toes may include absence (aplasia) or underdevelopment (hypoplasia) of the thumbs and/or the bones at the
ends of the fingers and the great toes (distal phalanges). In most cases, infants with this disorder experience severe feeding problems and respiratory difficulties. In
addition, affected infants may have heart defects (e.g., abnormal enlargement of the heart muscle [hypertrophic cardiomyopathy]). In some cases, feeding problems,
respiratory difficulties, and/or heart defects may result in life-threatening complications during infancy. Yunis-Varon Syndrome is thought to be inherited as an autosomal
recessive genetic trait.

Z
Zellweger syndrome : a rare hereditary disorder affecting infants. It is characterized by reduction or absence of peroxisomes(cell structures that rid the body of toxic
substances) in the cells of the liver, kidneys, and brain. Zellweger syndrome is one of a group of genetic disorders called the leukodystrophies that affect growth of the
myelin sheath, the fatty covering--which acts as an insulator--on nerve fibers in the brain. Unusual problems in prenatal development, an enlarged liver, high levels of
iron and copper in the blood, and vision disturbances are among the major manifestations of Zellweger Syndrome. Some affected infants may show prenatal growth
failure. Symptoms at birth may include lack of muscle tone and an inability to move. Other symptoms may include unusual facial characteristics, mental retardation,
seizures, and an inability to suck and/or swallow. Jaundice and gastrointestinal bleeding may also occur.
There is no cure for Zellweger syndrome, nor is there a standard course of treatment. Infections should be guarded against to prevent such complications as pneumonia
106
 and respiratory distress. Other treatment is symptomatic and supportive.
Bradley, W, et al (eds). Neurology in Clinical Practice: Principles of Diagnosis and Management. vol. II, Butterworth-Heinemann, Boston, pp. 1301-1302. (1991)
Raymond GV. Peroxisomal disorders. Current Opinion in Pediatrics, 11:6:572-6 (Dec 1999).
Rowland, L (ed). Merritt's Textbook of Neurology. 8th edition, Lea & Febiger, Philadelphia, pp. 560-562 (1989).
Thoene, J (ed). Physicians' Guide to Rare Diseases. Dowden Publishing Co., Inc., Montvale, NJ, pp. 275-276 (1992).
Zollinger-Ellison syndrome 頑固性潰瘍 (ZES) : characterized by the development of a tumor (gastrinoma) or tumors that secrete excessive levels of gastrin,
a hormone that stimulates production of certain acids and digestive juices by the stomach. Approximately 50 to 66 percent of affected individuals develop multiple
gastrinomas. In most cases, the tumor or tumors arise within the pancreas and/or the upper region of the small intestine (duodenum). According to estimates,
approximately 60 to 90 percent of the gastrinomas may be cancerous (malignant). Due to excessive secretion of certain digestive acids and juices (e.g., gastric acid
hypersecretion), individuals with ZES may develop severe, recurrent peptic ulcers of the stomach, the duodenum, and/or other regions of the digestive tract. Peptic
ulcers are sores or raw areas within the digestive tract where digestive acids and juices have eroded the lining of the stomach or intestine. Early in the disease course,
ulcer symptoms may be similar to those seen in others with peptic ulcers, such as mild to severe abdominal pain. However, as the disease progresses, such ulcer
symptoms may become more persistent and severe. In addition, there may be an increased likelihood of certain serious complications, such as bleeding and perforation.
Excessive acid levels within the digestive tract may also cause diarrhea, increased amounts of fat in the stools (steatorrhea), and/or other symptoms and findings. In
most affected individuals, ZES appears to develop randomly for unknown reasons (sporadically). In approximately 25 percent of cases, ZES occurs in association with a
genetic syndrome known as multiple endocrine neoplasia type 1 (MEN-1).

Rare Genetic Diseases In Children: The Rare Disease Catalogue Chromosomal Disorders
Disease Name Omim # Organizations/Sites
Achromatopsia 200930 . The Achromatopsia Network
Addison Disease 240200 Addison's Disease
Addisons & Cushings International Federation
Adrenal Hyperplasia Many: Search Omim
Late Onset Congenital Adrenal Hyperplasia
The Magic Foundation
Adrenoleukodystrophy 300100 ALD International Research Group
The Myelin Project
The United Leukodystrophy Foundation
see also: Leukodystrophy
Agenesis of the Corpus Callosum 218000 Angels Around the World
Ody's Homepage
Albinism 217900 National Organization for Albinism and Hypopigmentation
218000 International Albinism Center
Alopecia Areata 104000 National Alopecia Areata Foundation
Alpha1-Antitrypsin Deficiency 107400 AlphaNet
Alpha One Foundation
Alpha 1 Association
Alpha 1 Support UK
Alpha Mannosidosis 248500 International Society for Mannosidosis & Related Diseases
see also: Lysosomal Storage Diseases
Alpha Thalassemia 301040 ATR-X Syndrome eGroup
X-Linked Alpha Thalassemia Family Support Group
Alport Syndrome Many: Search Omim
Alport Syndrome Homepage
Alstrom Syndrome 203800 Society for Alstrom Syndrome Families
Alternating Hemiplegia of Childhood 104290 Association Francaise de l'Hemiplegie
Alternante International Foundation of Alternating Hemiplegia of Childhood
Androgen Insensitivity Syndrome 300068 Androgen Insensitivity Syndrome Support Group
Anencephaly 206500 Anencephaly Page
Anencephaly Support Foundation
The Ten Perfect Fingers Website
Angelman Syndrome 105830 Angelman Syndrome
Angelman Syndrome Association
Angelman Syndrome Foundation
Ils sont aux anges!
Aniridia Many: Search Omim
Aniridia Network
Canadian Foundation for Aniridia Research see also: WAGR Syndrome
Anophthalmia Many: Search Omim
ican (International Children's Anophthalmia Network)
Micro & Anophthalmic Childrens Society
Apert Syndrome 101200 Andrew's Journey
Swedish Apert Syndrome Information
Teeter's Page
Argininosuccinic Acidurea 207900 Argininosuccinic Acidurea Support Group
National Urea Cycle Disorders Foundation
see also Inborn Errors of Metabolism
Arnold-Chiari Malformation 207950 Chiari Information Exchange
World Arnold-Chiari Malformation Association
Aspartylglucosaminuria 208400 International Society for Mannosidosis & Related Diseases
Palotie Research Group
see also: Lysosomal Storage Diseases
Asperger Syndrome 209850 Aspen of America, Inc.
O.A.S.I.S.
Ataxia Many: Search Omim
National Ataxia Foundation
Ataxia-Telangiectasia 208900 The A-T Appeal
The A-T Children's Project

107
 The A-T Project Online
Autoimmune Polyendocrinopathy Syndrome 240300 Janet's APECED Home Page
Autosomal Recessive Polycystic Kidney Disease (ARPKD) 263200 ARPKD Information
600595 ARPKD Information
ARPKD Message Board
Polycystic Kidney Disease
Polycystic Kidney Disease Foundation
Batten Disease Many: Search Omim
Batten Disease Family Association
Batten Disease Research & Support Association
Batten Support & Research Trust
National Tay-Sachs & Allied Diseases Association
Vaincre les Maladies Lysosomales
see also: Lysosomal Storage Diseases
Beta Mannosidosis 248510 International Society for Mannosidosis & Related Diseases
see also: Lysosomal Storage Diseases
Blue Rubber Bleb Nevus Syndrome 112200 University of Texas Southwestern Medical Center
Canavan Disease 271900 The Canavan Foundation
The Canavan Research Fund
National Taysachs & Allied Diseases Association
Carbohydrate-Deficient Glycoprotein Syndrome Many: Search Omim
CDG Society
CDGS Family Network
Cardiofaciocutaneous Syndrome 11550 CFC Family Network
The CFC Foundation
Carnitine Palmitoyl Transferase Deficiency 255120 The Spiral Notebook
Celiac Disease 212750 Canadian Celiac Association
Celiac Disease Foundation
Celiac Disease Online Support Group
Celiac Sprue Association
The Coeliac Society of the UK
The Gluten-Free Page
Cerebrocostomandibular Syndrome 117650 CCMS Support Group
Charcot-Marie-Tooth Many: Search Omim
Charcot-Marie-Tooth Association
CMT International
CMT International UK
CMT Net
Coffin-Siris Syndrome 135900 Coffin-Siris Syndrome Page
Cornelia de Lange 122470 Baylee's Web Suite
Cornelia de Lange Syndrome Foundation
Costello Syndrome 218040 Costello Kids
Creutzfeldt-Jakob Disease 123400 Associazione Bambini Cri-du-chat
Austalian CJD Homepage
Creutzfeldt-Jakob Disease Foundation
Cri du Chat 123450 Associazione Bambini Cri-du-chat
5-p Society
Cri du Chat Syndrome Support Group
see also Chromosomal Disorders
Crouzon Syndrome 123500 About Face International
Crouzon Support Network
Cystic Fibrosis 219700 The Cystic Fibrosis Foundation
Canadian Cystic Fibrosis Foundation
C-F Web
French National Association Against C-F
International Cystic Fibrosis Association Address Book
Cystinosis 219880 Cystinosis Central
219900 Cystinosis Foundation
219750 Cystinosis Foundation UK and Eire
Diabetes Insipidus Many: Search Omim
Diabetes Insipidus Foundation
Diabetes Insipidus Network
Down Syndrome 190685 Canadian Down Syndrome Society
Down Syndrome Research Foundation
DownsNet
Down Syndrome Health Issues
Down Syndrome Research Foundation
Down Syndrome WWW Page
National Association for Down Syndrome
National Down Syndrome Society
see also Chromosome 21
Dubowitz Syndrome 223370 Dubowitz Syndrome Information & Parent Support
Duchenne Muscular Dystrophy 310200 The Parent Project
Dysautonomia 223900 National Dysautonomia Research Foundation
Dystonia Many: Search Omim
Dystonia Dialogue
Dystrophic Epidermolysis Bullosa Many: Search Omim
Debra International
Dystrophic Epidermolysis Bullosa Research Association of America
Ectodermal Dysplasia Many: Search Omim
National Foundation for Ectodermal Dysplasias
Selbsthilfegruppe Ektodermale Dysplasie
108
Ehlers-Danlos Syndrome Many: Search Omim
Canadian Ehlers-Danlos Association
Ehlers-Danlos Syndrome Support UK
Ehlers-Danlos Sweden
Ehlers-Danlos National Foundation
Esophageal Atresia see also Tracheoesophageal Fistula
Hallervorden-Spatz Syndrome 234200 Hallervorden-Spatz Syndrome Association
Hemihypertrophy 235000 Hemihypertrophy Support & Information
National Institute of Neurological Diseases & Stroke Mini Fact Sheet
Hemiplegia 104290 Hemi-Kids
Hemochromatosis 235200 American Hemochromatosis Society
602390 The Hemochromatosis Foundation
The Haemochromatosis Society
Hemophilia 306700 National Hemophilia Foundation
306800 South African Haemophilia Foundation
306900 UK Haemophilia Society
World Federation of Hemophilia
Heriditary Angiodema 106100 Heriditary Angiodema Support and Discussion Group
Heriditary Hemorrhagic Telangiectasia 187300 HHT Foundation
Heriditary Multiple Exostoses Many: Search Omim
Heriditary Multiple Exostoses Support Group
Heriditary Neuropathies Many: Search Omim
National Institute of Neurological Diseases & Stroke Mini Fact Sheet
Hermansky-Pudlak Syndrome 203300 Hermansky-Pudlak Syndrome Network
Hirshsprung Disease 142623 American Pseudo-Obstruction and Hirshsrpung's Disease Society
Holoprosencephaly 236100 The Carter Centers for Brain Research
The Independent Holoprosencephaly Support Site
Holt-Oram Syndrome 142900 Holt-Oram Syndrome Support Group
Hunter Syndrome 309900 Ethan's Feeling Switch
Canadian MPS Society
Gesellschaft f�
Mukopolysaccharidosen e. V.
National MPS Society
National Tay-Sachs & Allied Diseases Association
UK MPS Society
Vaincre les Maladies Lysosomales
see also Lysosomal Storage Diseases
Hurler Syndrome; Hurler-Scheie Syndrome; 252800 Canadian MPS Society
Scheie Syndrome Gesellschaft f�
Mukopolysaccharidosen e. V.
Holland's Hope
National MPS Society
National Tay-Sachs & Allied Diseases Association
Parents of MPS1
UK MPS Society
Vaincre les Maladies Lysosomales
see also Lysosomal Storage Diseases
Hutchison-Guilford Progeria Syndrome 176670 HGPS Resource Page
see also: Progeria
Hyperoxaluria 259900 Oxalosis and Hyperoxaluria Foundation
260000
Hypogonadotrophic Hypogonadism Many: Search Omim
HPOHH.net
Hypohidrotic Ectodermal Dysplasia 225040 HED Foundation
225050
Hypophosphotasia 241500 The Magic Foundation
241510
146300
Ichthyosis Many: Search Omim
FIRST: Foundation of Ichthyosis and Related Skin Types
National Registry for Ichthyosis and Related Skin Types
Inborn Errors of Metabolism Many: Search Omim
Belgische oudervereniging van kinderen met een stofwisselingsziekte
Children Living with Inherited Metabolic Disease (CLIMB)
IEM-Family Website
Metabolic Information Network (Physicians Only)
Red Latinoamericana Sobra
Enfermedades Metabolicas Heriditarias
Society for Inherited Metabolic Disorders
Society for the Study of Inborn Errors of Metabolism
Incontinentia Pigmenti 308300 National Incontinentia Pigmenti Foundation
308310
Infantile Refsum 266510 Infantile Refsum's Disease
National Tay-Sachs & Allied Diseases Association
United Leukodystrophy Foundation
Infantile Systemic Hyalinosis 236490 Infantile Systemic Hyalinosis
Jacobsens Syndrome 147791 The Fragile Website
Jeune Syndrome 208500 Jeune's Asphyxiating Thoracic Dystrophy
Jeune's Syndrome Information/Support Network
Joubert Syndrome 213300 Joubert Syndrome Foundation
National Institute of Neurological Diseases & Stroke Mini Fact Sheet
Juvenile Batten Disease Many: Search Omim
109
 Batten Disease Family Association
Batten Disease Research & Support Association
Batten Support & Research Trust
National Tay-Sachs & Allied Diseases Association
SeeAbility.org
Vaincre les Maladies Lysosomales
see also: Lysosomal Storage Diseases
Kabuki Syndrome 147920 Kabuki Syndrome Network
Netwerk Kabuki Syndroom
Kallmans Syndrome 147950 HYPOHH.net
Klinefelter Syndrome Many: Search Omim
Klinefelter Syndrome and Associates
Klinefelter Syndrome Support Group
New Zealand Kleinfelter Association
What is XXY?
Klippel-Feil Syndrome 148900 KFS Circle of Friends
The KFS Connection
National Institute of Neurological Diseases & Stroke Mini Fact Sheet
Klippel-Trenaunay-Weber Syndrome 149000 Klippel-Trenaunay-Weber Syndrome Support Group
National Institute of Neurological Diseases & Stroke Mini Fact Sheet
Tiffany's Page
Kniest Syndrome 156550 Kniest Syndrome Group
Kostmann Disease see Neutropenia
Krabbe Disease 245200 Hunter's Hope
krabbe-disease.com
Krabbe Disease Homepage
The Krabbe Family Network
National Institute of NeurologicalDiseases & Stroke Mini Fact Sheet
National Tay-Sachs & Allied Diseases Association
The United Leukodystrophy Foundation
Vaincre les Maladies Lysosomales
see also: Lysosomal Storage Disease
Landau Kleffner Syndrome 245570 Landau Kleffner Syndrome Website
Langer-Gideon Syndrome 150230 Langer-Gideon Syndrome Association
Wells Lab Langer-Gideon Syndrome Home Page
Laurence-Moon-Bardet-Biedel Syndrome 245800 Laurence-Moon-Bardet-Biedel Network
209900
Leber's Congenital Amaurosis 204000 Leber's Links
Leber's Optic Neuropathy 535000 International Foundation for Optic Nerve Disease
Leber's Optic Neuropathy Homepage
Legg-Calve-Perthes Disease 150600 Perthes Association
Parents of Perthes Support Group
Leigh Syndrome 308930 United Mitochondrial Disease Foundation
Leukodystrophy Many: Search Omim
The Myelin Project
United Leukodystrophy Foundation
Lissencephaly 247200 Lissencephaly Launchpad
The Lissencephaly Network
Long QT Syndrome Many: Search Omim
Australian Sudden Arrhythmia Death Site
Canadian SADS Foundation
IHC Website
SADS Foundation
Lowe Syndrome 309000 Association du Syndrome de Lowe
Lowe Syndrome Association, Inc.
Lysosomal Storage Diseases Many: See our Lysosomal Storage Diseases: A Family Sourcebook
Australasian Referral Laboratory
Lysosomal Diseases Australia
Lysosomal Diseases New Zealand
National Tay-Sachs & Allied Diseases Association
Vaincre les Maladies Lysosomales
see also Inborn Errors of Metabolism
Machado-Joseph Disease 109150 International Joseph Disease Foundation
Mannosidosis see Alpha Mannosidosis
see Beta Mannosidosis
Maple Syrup Urine Disease 248600 MSUD Family Support Group
Marden-Walker Syndrome 248700 The National Marden-Walker Organization
Marfan Syndrome 154700 Canadian Marfan Association
National Marfan Foundation
Mayer-Rokitansky-Kustur-Hauser Syndrome 277000 Mayer-Rokitansky-Kustur-Hauser Syndrome Listserv & Support Group
McArdle Disease 232600 McArdle's Disease
McArdle's Disease Informations source
see also Glycogen Storage Disease
McCune-Albright Syndrome 174800 The Magic Foundation
Meckel-Gruber Syndrome 24900 In Memory of Max
McShane Metabolic Diseases Many: Search Omim
See Inborn Errors of Metabolism
Microcephaly Many: Search Omim
Hogs and Kisses
Mini Information Sheet from NINDS
Online Microcephaly Support Group
Microphthalmia Many: Search Omim
110

Mitochondrial Diseases
Moebius Syndrome
Morquio Syndrome
Mucolipidosis
Mucopolysaccharidosis Disorders
Muscular Dystrophy
Nail Patella Syndrome
Nephrogenic Diabetes Insipidus
Neurocutaneous Melanosis
Neurofibromatosis
Neutropenia
Niemann-Pick Disease
Nonketonic Hyperglycinemia
Noonan Syndrome
Nystagmus
Oligosaccharide Storage Diseases
Organic Acidemia
Osteogenesis Imperfecta
Parry-Romberg Syndrome
Micro & Anophthalmic Childrens Society
Many: Search Omim
Center for Inherited Disorders of Energy Metabolism
International Mitochondrial Disease Network
Mitochondrial & Metabolic Disease Center
Mitochondrial Disease Information Network
United Mitochondrial Disease Foundation
157900 la Fundaci Sindrome de Moebius
Moebius Syndrome Foundation
Moebius Syndrome Foundation of Australia
Nederlandse Moebius Syndroom Stichting
253000 Canadian MPS Society
253010 Danette Baker's Web Page
Gesellschaft f�
Mukopolysaccharidosen e. V.
Little People of America
Morquio's Parent Support Group
National MPS Society
National Tay-Sachs & Allied Diseases Association
UK MPS Society
Vaincre les Maladies Lysosomales
see also Lysosomal Storage Diseases
Many: Search Omim
Canadian MPS Society
Gesellschaft f�
Mukopolysaccharidosen e. V.
Mucolipidosis IV Foundation
National MPS Society
National Tay-Sachs & Allied Diseases Association
UK MPS Society
Vaincre les Maladies Lysosomales
see also Lysosomal Storage Diseases
Many: Search Omim
Canadian MPS Society
Gesellschaft f�
Mukopolysaccharidosen e. V.
National MPS Society
National Tay-Sachs & Allied Diseases Association
UK MPS Society
Vaincre les Maladies Lysosomales
see also Lysosomal Storage Diseases
Many: Search Omim
Muscular Dystrophy Association of Australia
Muscular Dystrophy Association of Canada
Muscular Dystrophy Association USA
161200 Johns Hopkins Nail Patella Information Page
Nail Patella Syndrome
Nail Patella Syndrome Homepage
304800 NDI Foundation
see also Diabetes Insipidus
249400 Nevus Outreach, Inc.
Many: Search Omim
National Neurofibromatosis Foundation
Neurofibromatosis, Inc.
Neurofibromatosis Resources
202700 Neutropenia Support Association
Severe Chronic Neutropenia International Registry
257200 Aide Aux Familles Niemann-Pick
257220 The Ara Parsegian Medical Research Foundation
Die Niemann Pick Selbsthilfegruppe
International Center for Types A & B Niemann-Pick Disease
Jacob's Reach
National Niemann-Pick Foundation
National Tay-Sachs & Allied Diseases Association
Niemann-Pick Disease Group (UK)
Vaincre les Maladies Lysosomales
see also Lysosomal Storage Diseases
Many: Search Omim
NKH Parent Network
163950 Noonan Syndrome Society
Noonan Syndrome Support Group
Many: Search Omim
Nystagmus Network
Many: Search Omim
International Society for Mannosidosis & Related Diseases
see also Lysosomal Storage Diseases
Many: Search Omim
Organic Acidemia Association
259400 l'Association de l'Osteogenese Imparfait
Osteogenesis Imperfecta Federation Europe
Osteogenesis Imperfecta Foundation
141300 The Romberg's Connection
111
Pearson Syndrome 557000 United Mitochondrial Foundation
Peripheral Neuropathy 601152 The Neuropathy Association
Persistent Hyperinsulinemic Hypoglycemia of Infancy 601820 PHHI Homepage
Perthes Disease see Legg-Calve-Perthes Disease
Peters Anomoly 604229 Peters Anomoly Support Group
Phenylketonuria 261600 A Place of Our Own
National PKU News
National Society for PKU
PKU Resource Booklet for Families
Pierre Robin Syndrome 261800 Pierre Robin Network
Polycystic Kidney Disease see Autosomal Recessive Polycystic Kidney Disease
Pompe Disease 232300 Acid Maltese Deficiency Association
International Pompe Association
The Pompes Disease Page
Vaincre les Maladies Lysosomales
see also: Lysosomal Storage Diseases
Porphyria Many: Search Omim
American Porphyria Foundation
Canadian Porphyria Foundation
Porphyria: A Patient's Guide
Prader-Willi Syndrome 176270 International Prader-Willi Syndrome Organization
Prader-Willi Syndrome Association
Prader-Willi Syndrome Association UK
Primary Ciliary Dyskinesia 242650 PCD Family Support Group
PCD Belangengroep
Primary Immune Deficiency Many: Search Omim
Jeffrey Modell Foundation
Immune Deficiency Foundation
Pediatric Primary Immune Deficiency
Primary Immunodeficiency Association
Progeria 176670 The Progeria Foundation
see also Hutchinson-Gilford Progeria
Proteus Syndrome 176920 The Proteus Syndrome Foundation
Prune Belly Syndrome 100100 Prune Belly Syndrome Network
Pseudoxanthoma Elasticum Many: Search Omim
National Association for Pseudoxanthoma Elasticum Australia
National Association for Pseudoxanthoma Elasticum
PXE Inernational
Purine Metabolic Disorders Many: Search Omim
European Society for the Study of Purine and Pyrimidine Metabolism in Man
Purine Metabolic Patient's Association
Purine Research Society
Society for the Study of Inborn Errors of Metabolism
see also: Inborn Errors of Metabolism
Retinitis Pigmentosa Many: Search Omim
TARP (Texas Association of Retinitis Pigmentosa)
Rett Syndrome 312750 Australian Rett Syndrome Homepage
International Rett Syndrome Association
Rett Syndrome & Me
Robinow Syndrome 180700 The Robinow Syndrome
Rubenstein-Taybi Syndrome 180849 Rubenstein-Taybi Syndrome Bulletin Board
Rubenstein-Taybi Syndrome Netherlands
Rubenstein-Taybi Syndrome Support Site
Special Friends Foundation
Russel-Silver Syndrome 180860 The Magic Foundation
312780
Sagittal Synostosis 123155 Sagitall Synostosis Homepage
218450
Sanfilippo Syndrome Many: Search Omim
Canadian MPS Society
The Children's Medical Research Foundation
Gesellschaft f�
Mukopolysaccharidosen e. V.
National MPS Society
National Tay-Sachs & Allied Diseases Association
UK MPS Society
Vaincre les Maladies Lysosomales
see also: Lysosomal Storage Diseases
Schindler Disease 104170 International Society for Mannosidosis & Related Diseases
see also: Lysosomal Storage Diseases
Schizencephaly 269160 Schiz Kids Buddies
Scoliosis Many: Search Omim
International Federation of Spine Associations
Scoliosis Research Society
Scoliosis Support Group
Septooptic Dyslplasia 182230 The Magic Foundation
Septo-Optic Dysplasia/Optic Nerve Dysplasia Support Group
Severe Combined Immunodeficiency 300400 Immune Deficiency Foundation
International Patient Organization for Immunde Deficiencies
The SCID Homepage
Shwachman Diamond Syndrome 260400 Associazione Italiana Sindrome di Shwachman
Shwachman Diamond Friends
112
 Shwachman Diamond Information Site
Shwachman Diamond Syndrome International
Shwachman Syndrome Support Australia
Sialidosis 256550 International Society for Mannosidosis & Related Diseases
see also: Lysosomal Storage Diseases
Sickle Cell Anemia 603903 American Sickle Cell Anemia Association
Sickle Cell Anemia: A Parent's Guide
Sickle Cell Disease Association of America
Sickle Cell Society
Smith-Lemli-Opitz Syndrome 270400 Smith-Lemli-Opitz/RSH Website
Smith-Lemli-Opitz Syndrome Advocacy & Exchange
Smith-Magenis Syndrome 182290 About Smith-Magenis Syndrome
PRISMS
Smith-Magenis Syndrome
Sotos Syndrome 117550 Eltern-Iniative Sotos Syndrom
Kirsty's Homepage
Sotos Syndrome Support Association
Spina Bifida 182940 Association of Spina Bifida and Hydrocephalus
206500 Spina Bifida Association of America
Spina Bifida Association of Canada
Spina Bifida.net
Spinal Muscular Atrophy Many: Search Omim
Andrew's Buddies: Fight Spinal Muscular Atrophy
The Eyes of Hope Foundation
Families of SMA Homepage
Jennifer Trust for Spinal Muscular Atrophy
Spinal Muscular Atrophy
Spinal Muscular Atrophy Net
Stickler Syndrome 182230 Dave Hawley's Stickler Syndrome Page
Stickler Involved People
Stickler Syndrome Support Services
Stiff Man Syndrome 149400 Stiff Man Syndrome Foundation
184850
Sturge-Webber Syndrome 185300 Norsk Forening for Sturge-Weber Syndrome
Sturge-Webber Foundation
Tay-Sachs Disease 272800 Late Onset Tay-Sachs Foundation
National Tay-Sachs & Allied Diseases Association
National Tay-Sachs & Allied Diseases of Ontario
Vaincre les Maladies Lysosomales
see also: Lysosomal Storage Diseases
Tetrahydrobiopterin Deficiency 261640 The Tetrahydropterin Home Page
Thalassemia 141900 Berloni Foundation
Children's Hospital Oakland Compehensive Thalassemia Center
Cooley's Anemia Foundation
Sarawak Thalassemia Online
Thalassemia Online
Tracheoesophageal Fistula 189960 ea|tef Child and Family Support Connection
Treacher Collins Syndrome 154500 Reflections on Treacher Collins Syndrome
Treacher Collins Family Support Group
Treacher Collins Foundation
Treacher Collins Syndrome: A Personal View
Triose Phosphate Isomerase Deficiency 190450 James Stewardson Research and Welfare Trust
Tourette Syndrome 137580 GTS Worldwide
Tourette Syndrome Association
Tourette Syndrome Foundation of Canada
Trimethlyaminuria 602079 Science News Trimethlyaminuria
Tuberous Sclerosis 191100 Australasian Tuberous Sclerosis Society
Global Tuberous Sclerosis Information Link
Lisa's Tuberous Sclerosis Site
National Tuberous Sclerosis Association
Tuberous Sclerosis Association UK
Turner Syndrome Association
des Groupes Amities Turner
Deutsche UTS Homepage
The Magic Foundation
Turner Syndrome Society UK
Turner's Syndrome Society of the United States
Urea Cycle Disorders Many: Search Omim
National Urea Cycle Disorders Foundation
see also Inborn Errors of Metabolism
Ushers Syndrome Many: Search Omim
Tarp Ushers Syndrome Page
Vacterl Syndrome 192350 Tracheo-Oesophageal Fistula Support
VATER Association 276950 Vacterls Association Family Network
314390 Vacterl Website (Sweden)
The Vater Connection
Velocardiofacial Syndrome 182430 22q11 Group
VCF Educational Foundation
VCFS in Australia
Velo-Cardio-Facial Syndrome Educational Institute
Velo-Cardio-Facial Syndrome Information Page
Von Hippel-Lindau Syndrome 193300 Association VHL France
113
 VHL Family Alliance
WAGR Syndrome 194072 WAGR Syndrome/Aniridia Website
see also Aniridia
Williams Syndrome 194050 Canadian Association for Williams Syndrome
Lili Claire Foundation
Patricia Moylan's Page
Williams Syndrome Association
Williams Syndrome Foundation
Williams Syndrome Foundation, UK
Wilson Disease 277900 National Center for the Study of Wilson's Disease
Wilson's Disease International
Wolf Hirschorn Syndrome 194190 Wolf-Hirschorn Information Page
Wolfram Syndrome 222300 Worldwide Society of Wolfram Syndrome Families
Wolfram Syndrome (DIDMOAD)
Worster-Drought Syndrome 185480 Worster-Drought Syndrome Support Group
Xeroderma Pigmentosa 278700 Children of the Moon
The XP Society

Chromosome # Human Genome Organization (HUGO) Chromosome Pages Organizations/Sites

1 Hugo Chromosome 1 n/a
2 Hugo Chromosome 2 n/a
3 Hugo Chromosome 3 Chromosome 3 Deletion Registry
4 Hugo Chromosome 4 Wolf-Hirschhorn (4p) Syndrome
5 Hugo Chromosome 5 5-p Society
Cri du Chat Syndrome Support Group
6 Hugo Chromosome 6 n/a
7 Hugo Chromosome 7 Chromosome 7 Project
8 Hugo Chromosome 8 Trisomy 8
9 Hugo Chromosome 9 Chromosome 9 Resource Page
Chromosome 9p Network
Trisomy 9 International Parent Support
10 Hugo Chromosome 10 Distal Trisomy 10q Families
11 Hugo Chromosome 11 11q Research & Support Group
European Chromosome 11q Network
The Fragile Website
International 11:22 Translocation Network
12 Hugo Chromosome 12 n/a
13 Hugo Chromosome 13 n/a
14 Hugo Chromosome 14 Trisomy 14 Bulletin Board
15 Hugo Chromosome 15 n/a
16 Hugo Chromosome 16 Disorders of Chromosome 16 Foundation
17 Hugo Chromosome 17 n/a
18 Hugo Chromosome 18 Chromosome 18 Registry & Research Society
Rainbows Down Under Tetrasomy 18p
19 Hugo Chromosome 19 n/a
20 Hugo Chromosome 20 n/a
21 Hugo Chromosome 21 Trisomy 21 Foundation
see also Downs Syndrome
22 Hugo Chromosome 22 Chromosome 22 Central
Chromosome 22 Diseases
Parents & Friends of Children with Ring 22

ORPHAN DRUGS ( since Jan. 1983 )

Law : & Background
The Orphan Drug Act of Jan.3, 1983 ( Public law 97-414 ), amended in 1984 ( public law 98-551 ),
- define and simplify the orphan status designation; amended in 1985( public law 99-91): delete the requirement that only
designated orphan drugs for which a US Letter of Patent may not be issued qualified for marketing exclusively; amended in
1988 ( public law 100-290 ) for New Drug Application (NDA) for drugs or product License Application (PLA) for biologics
- Define : Drugs or biologics to diagnosis, treatment, or prevention of rare diseases or conditions ( affects < 200,000 pts, e.g.
adenosine deaminase (ADA ) deficiency pts severe combined immunodeficiency disease (SCID ) = only 12 pts. in total ;
Sacrosidase for sucrase- isomaltase deficiency pts = 41 pts only ) , or limited commercial value and permit pts to use orphan
drugs for " open protocols" treatment purposes while the drug are being investigated in clinical trials
- Not necessary for the submission of an Investigational New Drug Application ( IND).
- It guarantees the developer 7 years of market exclusively and 50% tax credit for certain clinical research expamses.
- In May 1982, FDA established an Office of Orphan Product Development ( Director : Marlene E. Haffner ) in the Office of the
commissioner. , Since 1983, the FDA has awarded 370 such grands, totally > 150 million.
- 375 drugs or biologicals had received orphan status: June 1990; recombinant hormones not as orphan drug in Mar.’94
- Applications : Huntington's disease, ALS ( Lou Gehrig's disease) , Tourette Syndrome;
Amendment of Orphan Drug Act (HR 4638), Nov 1990
114
 - protect development of true orphan drugs, encouraged competition to lower the price of pseudoorphans ( e.g. Erythropoietin
( Epoetin alfa( Epogen ) from Amgen, Procrit from Ortho Biotech ) : anemia of end-stage kidney failure [ as a rare disease,
78000 pt at the time], restoring RBC in AIDs drug or cancer chemotherapy [ tremendous profits ] , $8000 / pt/ y 6th & 7th
best-selling drug in USA  blockbusters),  Consumer group accusing
- The recombinant hormone will lose its protection as an orphan drug in Mar 1994.
- Of the 10 best-selling biotech drugs worldwide in 2001 [ 1st: Epoetin alfa ( Epogen, Procrit, Eprex for anemia) from Amgen,
2nd : Interferon-alpha 2b ( Intron A, PEG-Intron, Rebetron for hepatitis C ) from Schering-Plough, 3rd: Filgrastim ( Neupogen
for neutropenia ) from Amgen, 4th: Human insulin ( Humulin ) from Genentech , 5th : Interferon –beta 1a ( Avonex for
multiple sclerosis) from Biogen, 6th : Rituximab ( Rituxan for Non-Hodgkin’s lymphoma ) from IDEC Pharmaceuticals, 7th:
Somatropin ( Protropin, Netropin, Genotropin, Humatrope) from Genentech, 8th : Etanercept ( Enbrel for arthritis ) from
Amgen[ formerly Immunex ], 9th : Infliximab ( Remicade for Crohn disease) from Centocor, 10th : Palivizumab ( Synagis for
Pediatric respiratory disease ) from Medimmune ] 5( 1st, 5th, 6th, 7th, 9th ) were originally approved as orphan drugs, and 3
( 2nd, 3rd, 8th )more were approved for orphan indications in addition to their original use.

When Alison Ashcraft was 7, her family doctor called her parents in to tell them she had a rare disease, severe combined immunodeficiency, a genetic
disorder made famous by the movie " The Boy in the Plastic Bubble." For children like Alison with no compatible bone marrow donor, there was no
cure. The only treatment was repeated transfusions of gamma globulin, which still left her exposed to a host of infectious diseases.
After her diagnosis, her health worsened. "She would get a cold, it would turn into an infection, it would go to her lungs, and she would wind up in bed for
six weeks with pneumonia," said her father, Aaron E. Ashcraft. She was fatigued, sleeping 20 hours a day, and unable to play more than five minutes of
tennis, her favorite sport. She could not attend school from December until March because of her susceptibility to normal childhood infections and the
possible dire consequences; even chicken pox could befatal for Alison.
Then she was enrolled in a study of a drug called PEG-ADA, in which she was given adenosine deaminase, an enzyme her body failed to produce on its
own. Last year, her sophomore year in high school, Alison was able to attend school through the winter for the first time. And one recent weekend she and
her father played tennis 90 minutes without a break. As recently as 10 years ago, PEG-ADA might never have come to market. But under the Orphan
Drug Act, the federal government provided a grant to support development costs, provided federal tax credits, and offered other inducements, and
PEG-ADA was approved by the Food and Drug Administration last March 23.

Other Rare Diseases

There are an estimated 5,000 known rare diseases that affect fewer than 200,000 people each, but which collectively affect between 10 million and 20
million people, according to estimates by the Pharmaceutical Manufacturers Association (PMA) and the National Organization for Rare Disorders (NORD).
The Orphan Drug Act has helped in the development of products to treat drug addiction, leprosy, hemophilia, and rare cancers, as well as diseases most
people have never heard of, such as cryptosporidiosis (an infection caused by a protozoan parasite found in animals' intestines that causes diarrhea, fever,
weight loss, and lymph node enlargement) and neurocysticercosis, a parasitic disease characterized by cysts in the brain and spinal cord.
The Orphan Drug Act was one of the reasons the pharmaceutical community was able to rise to the challenge of acquired immune deficiency syndrome,
or AIDS. Pentamidine isethionate, used to treat a pneumonia that strikes many people with AIDS, and zidovudine (commonly called AZT), which prolongs
the life of people with AIDS, were also developed under the Orphan Drug Act. According to Marlene Haffner, M.D., FDA's director of orphan product
development, "Without the Orphan Drug Act, pentamidine may have been developed much later, as may have AZT, and maybe some of the others would
never have seen the light of day."

Just the Beginning

The Orphan Drug Act has been in place more than seven years, but because of the length of time required to bring a drug to market, it is only just
beginning to yield results. There have been 41 orphan drugs approved, most of them in the last few years, and, according to a recent trade publication,
Orphan Drugs in Development, 133 products for 96 rare disorders are in the final stages of development.
"The first couple of years the Orphan Drug Act was in place, there was a lot of uncertainty about it, but the last four or five years it has really blossomed,"
said Abbey S. Meyers, NORD director. "In fact, what we're seeing now is a number of companies starting up specifically to pick up some of these orphans. If
you can pick up an orphan drug and it has a market of $5 million to $20 million a year, a little company is very happy with it."
One of the new companies is Medical Market Specialties Inc. of Boonton, N.J., which has an investigational new drug application for Elmiron, said
company president Richard C. Lufkin. Elmiron (pentosan polysulphate sodium) has been around for years, but the company is studying it to determine
whether it can be used to treat a rare and painful bladder disorder, interstitial cystitis, which affects about 45,000 people in the United States, 90 percent of
them women.
"Without the Orphan Drug Act, Elmiron would never have been pursued, because there would have been no [marketing] protection," Lufkin said. "After
we got done with the [approval process], someone else could have made it and sold it without the research and development expense."

Recent Approvals
In 1989, eight new orphan products were approved for marketing, including epoetin alfa for the treatment of anemia associated with chronic renal failure,
rifampin for anti-tuberculosis treatment, and cromolyn sodium for mastocytosis, which can cause hives, itching, bone pain, diarrhea, and chronic fatigue.
Also in 1989, FDA awarded 21 new grants for research into conditions such as: graft-versus-host disease; sickle cell anemia; Wilson's disease, in which
copper accumulations in the liver cause cirrhosis and ultimately intellectual impairment; and neuroblastoma, a tumor of the adrenal glands or sympathetic
nervous system that affects about eight out of every 1 million children.
Marketing exclusivity is one of the key features of the Orphan Drug Act because often a drug that has been around for years, and therefore cannot be
patented, is discovered to be effective against another disease. A researcher might get approval to treat a few specific patients under an investigational
protocol, but not have the time, money or expertise to guide it through the regulatory process for market approval.
"Some of these doctors were making these drugs by hand, and it occurred to them that if they get run over by a truck their patients would die, so it
became important to them to find a commercial sponsor," said Meyers.

Ucephan
That was the case with Ucephan, made by Saul Brusilow, M.D., at Johns Hopkins University until it was picked up by Kendall-McGraw. Ucephan is used
to treat three forms of urea-cycle disorder that, combined, affect perhaps 30,000 people. Each day Americans eat about 100 grams of protein, which
contains nitrogen that the body cannot incorporate. People with normal urea systems excrete nitrogen in the urine in the form of urea, the end product of a
complex biological process. But someone with urea-cycle disorder, a genetic defect, accumulates nitrogen in the blood as ammonia, causing lethargy,
stupor, vomiting, brain swelling, seizures, and, ultimately, death.
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 Brusilow said he was talking with some colleagues about the disorder when someone suggested he try Ucephan, a drug made of sodium benzoate (a
preservative in food and soft drinks) and another chemical, sodium phenyl acetate. The body converts both components to a nitrogen-containing compound
and then excretes it.
"Ucephan sponges up the nitrogen that the defective urea enzyme can't handle," Brusilow said. "The problem is that sodium phenyl acetate, which is
more effective, smells very bad. When I was the only source of sodium phenyl acetate in the world, making it in my lab, I was stinking up the building."
The sodium benzoate made the drug more palatable by reducing the smell. Because Ucephan's patent had run out, without the seven years of
marketing exclusivity offered by the Orphan Drug Act, it would have been unlikely that a manufacturer would have put millions of dollars into sponsoring
Ucephan for urea-cycle disorder, because once FDA approval was granted any manufacturer could have submitted an application to FDA to market a
generic copy of the drug. But market exclusivity permitted an opportunity to recover the development costs.
Brusilow said handing production over to Kendall-McGraw has allowed him to concentrate on second- and third-generation forms of the drug. He has
obtained investigational new drug status for a new compound that replaces the phenyl acetate with sodium phenyl butyrate, which costs more but is
odorless.

Serendipity
Occasionally there have been serendipitous outcomes of orphan drug development resulting in more possible uses for a drug than originally expected.
Penicillamine, for instance, was used to treat about 2,000 people for Wilson's disease, and, although it was not a money-maker, the manufacturer continued
to make it available as a public service. Then a university in England discovered it was also effective as an arthritis therapy.
"If that manufacturer had stopped making that drug, we would not have one of the key treatments for severe rheumatoid arthritis today," Meyers said.
"That's really the lesson of orphan drug development."
The same thing appears to be happening with Cytomegalovirus Immune Globulin Intravenous, or CMV-IGIV, a biologic for treating kidney transplant
patients. The CMV-IGIV contains high concentrations of the cytomegalovirus antibodies, which ward off the severe effects of the infection. Most adults in the
United States have been exposed to cytomegalovirus, and it is usually harmless to normal, healthy adults. In those whose immune response has been
compromised, however, the virus can destroy the lungs, liver, eyes, and other critical organs. In kidney and other organ transplants, the immune system is
purposely suppressed to prevent organ rejection.
On April 17, 1990, FDA granted Massachusetts Public Health Biologic Laboratories a license for CMV-IGIV, and the Red Cross began distributing it.
"Demand has been growing faster than expected and, unfortunately, production hasn't been able to keep up yet," said Lauren M. Foohey of the Red Cross
product management unit.
Although CMV-IGIV is licensed only for kidney transplants now, Foohey said the Red Cross has been getting a lot of calls from physicians who are
interested in its application in heart, liver, and other organ transplants, and there is some indication CMV-IGIV might be used for people with AIDS, whose
immune systems are suppressed by the disease.

PEG-ADA
One of the premier examples of how well the Orphan Drug Act can work came this year with the approval of PEG-ADA.
"This was a breakthrough," FDA's Haffner said of PEGnology, the enzyme replacement process developed by Enzon. "If it works the way it's thought it
will, this technology will change the way we can provide drugs to patients."
The drug's roots date back to the 1970s, when Abraham Abuchowski was a graduate student at Rutgers University and wanted to do his thesis on the
enhancement of enzyme therapy.
Direct enzyme therapy, to replace enzymes that the body cannot produce because of a genetic defect, has several problems. Since enzymes are
proteins, they must be injected, rather than taken orally. Most enzymes remain in the blood only a short time, requiring frequent injections, which in turn can
cause the development of antibodies that clear the enzyme from the blood even more frequently. In time, serious allergic reactions can occur.
Working with Frank Davis, Ph.D., Abuchowski developed a process called PEGnology, in which strands of polyethylene glycol, a nontoxic polymer
already approved by FDA for use in food, cosmetics and other drugs, are attached to the surface of the enzyme, "camouflaging it from the immune system.
As a result the body does not recognize the injected enzyme as foreign and does not produce antibodies that would remove it from the blood," according to
the company literature. "This reduces the number of injections needed to achieve therapeutic blood levels in addition to reducing allergic reactions."
"PEG-ADA, from a purely business and financial sense, might not have been the best product to select, but it really was done for other reasons," said
Donna Chappina, a spokeswoman for Enzon, the company Abuchowski and Davis formed to develop the drug. "They felt it was the most difficult one to
accomplish. It was purely a scientific venture, two scientists banging their heads together."
Severe combined immunodeficiency was also a disease that had received little attention, because its patient population was so small, perhaps 40 cases
known worldwide. When clinical testing began on the product, 14 patients in the United States and Europe were included in the drug trial, patients who until
that day had no hope of escaping frequent injections and the effects of the disease. All showed improvement within 6 to 12 months, according to Chappina.
Although the cost of PEG-ADA therapy is almost $60,000 a year and the patients are responsible for the cost, Enzon has worked with the insurance
companies covering families of patients and believes in most cases the cost will be covered, Chappina said. "The cost of the drug really has to do with the
very high cost of the native enzyme, bovine adenosine deaminase, and, because there are only 14 people receiving the drug, we can't spread the cost out,"
Chappina said.
Enzon also has hopes for other PEGnology drugs, in various stages in the development process, that might serve wider audiences, Chappina said. In the
meantime, there are other, nonfinancial rewards. The families of six patients were flown into New Jersey for a press conference when PEG-ADA's
license approval was announced earlier this year. The morning after their arrival, they all went up to Abuchowski's table in the hotel restaurant, many with
tears in their eyes, to thank him for givingtheir children a better life.
That is the promise that the Orphan Drug Act holds out to people throughout the country who have a variety of rare diseases. No longer is a disorder that
might afflict only a dozen people ignored by medical product manufacturers because the research is economically unfeasible. Now those sufferers have a
chance that somehow, somewhere, a cure or a treatment will be found.

Robert A. Hamilton is a health and science reporter for New London Day and a freelance writer in Franklin, Conn.

History of the Orphan Drug Act

FDA set up the Office of Orphan Product Development in 1982 to focus on drugs, medical devices, foods for medical purposes, and biologics such as
immune globulin for rare disorders. President Reagan signed the Orphan Drug Act into law on Jan. 3, 1983. It guarantees the developer of an orphan drug
seven years of market exclusivity and 50 % tax credit for certain clinical research expenses. Initially, the act applied only to patient populations when it could
be shown there was little hope of recovering development costs from sales in the United States. A later amendment to the act defined an orphan product as
one with a potential patient population of fewer than 200,000 people.
Under the Orphan Drug Act, FDA makes grants for drug development, assists the drug developer in designing the clinical studies required for marketing,
and can speed up the drug approval process.
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 "There are no real shortcuts," said Marlene Haffner, M.D., FDA's director of Orphan Product Development. "A lot of these drugs are for very serious and
life-threatening disorders, in some cases affecting only a few hundred people. You have the smaller NDA [new drug application] and a group of very needy
people, and that's what expedites it. But the safety and efficacy requirements are the same."
Since enactment of the Orphan Drug Act, 41 drugs for rare diseases have been developed and brought onto the market. Activity in orphan products--
which, in addition to drugs, can include biologics, medical devices, and foods marketed for medical purposes--is reaching an all-time high. According to
Haffner, FDA has designated as orphans 375 drugs, and at least 150 are being actively developed or are going through the approval process. The federal
monies available to fund orphan drug development have increased steadily--from $500,000 in 1983 to $7.5 million in 1990.
The term "orphan drug" refers to a drug that will serve so few patients that it will be commercially impractical for a manufacturer to sponsor it. Orphan
drug also refers to compounds in the public domain for which there can be no patent protection once a company goes through expensive efficacy tests and
gets FDA approval, so that a competitor could immediately begin producing a generic copy at a fraction of the cost. The phrase was coined in a 1968
editorial in the American Journal of Hospital Pharmacy, "Homeless or Orphan Drugs."

Approved designed Orphan Products Jan 1982 to May 1990

Generic (Trade ) Name, FDA approved date Indication

Alpha-1-proteinase inhibitor ( Cutter Labs ), 12/02/87 Replacement therapy in congenital deficiency state
Antithrombin II Human ( Antithrombin, Kabi Vitrum Inc), 12/13/89 For the treatment of pts with hereditary deficiency in connection with surgical or obstetrical procedures or
those suffering from thromboembolism.
Benzoate and phenylacetate (Ucephan, Kendall-McGaw), 12/23/87 Adjunctive therapy in prevention and treatment of hyperammonemia in pts with urea cycle
enzymophathy (uce) due to carbamylphosphate synthetase, orithine, transcarbamylase, or arginosuccinate synthetase deficiency.
Botulinum toxin type A (Oculinum, Occulinum Inc.), 12/29/89 Treatment of blepharospasm, strabismus
Calcitonin-human ( Cibacalcin , Ciba-Geigy), 10/31/86 Treatment of symptomatic Paget's disease of bone ( osteitis deformans )
Chenodiol ( Chenix, Reid-Rowell ), 07/28/83 For pts with radiolucent stones in well opacifying gallbladders, in whom elective surgery would be undertaken except for the
presence of increased surgical risk due to systemic disease or age.
Clofazimine ( Lamprene, Ciba-Geigy ), 12/15/86 Treatment of lepromatous leprosy, including dapsone-resistant lepromatous leprosy and lepromatous leprosy complicated by
erythema nodosum leprosum.
Cromolyn sodium ( Gastrocom, Fisons ), 12/22/89 Treatment of mastocytosis
Cromolyn sodium 4% opthalmic solution (Opticrom, Fisons), 10/03/84 Treatment of vernal keratoconjunctivitis (vkc)
Cytomegalovirus immune globulin , human ( Massachusetts Public health Biologic Labs), 04/17/90 Prevention of attenuation of primary cytomegalovirus disease in
immunosupressed recipients of organ transplants
Digoxin immune fab, ovine ( Digibind, Burroughs Wellcome ), 03/21/86 Treatemnt of potentially life-threatening digitalis intoxication in pts who are refractory to management
by convientional therapy.
Epoetin alfa ( Epogen, Amgen ), 06/01/89 Treatment of anemia associated with end-stage renal disease
Ethanolamine oleate ( Ethamolin, Glaxo ), 12/12/88 Treatment of bleeding esophageal varices
Etidronate disodium ( Didronel, Norwich Eaton ), 04/21/87 Treatment of hypercalcemia of a malignancy inadequately managed by dietary modification and/or oral hydration
Ganciclovir sodium ( Cytovene , Syntex ), 06/23/89 Treatment of cytomegalovirus (CMV) retinitis in immuno- compromised pts with AIDS
Gonadorelin acetate ( Lutrepulse, R.W. Johnson Research Inst. ), 10/10/89Induction of ovulatiob in women with hypothalamic amenorrhea due to a deficiency or absence in
quantity or pulse pattern of endogenous GNRH secretion
Hemin ( Abbott Labs ), 07/20/83 Ameloriation of recurrent attacks of acute intermittent porphhyria (AIP) temporarily related to the menstrual cycle in susceptible women and
similar symptoms with occur in other pts with AIP, porphria variegata, and heredita coproporphria
Ifosfamide ( Ifex, Bristol-Myers ), 12/30/88 Treatment of tesicular cancer
Interferon alpha-2a, recombinant ( Referon-A, Hoffmann-LeRoche ),11/21/88 Treatment of AIDS-related Kaposi's sarcoma
Interferon-alpha-2b, recombinant ( Intron A, Schering ), 11/21/88 Treatment of AIDS-related Kaposi's sarcoma
L-carnitine ( Vitacarn, Kendall McGaw ), 04/10/86 Treatment of genetic carnitine deficiency
L-carnitne ( Carnitor, Sigma Tau ), 12/27/85 Treatment of primary and secondary caritine deficiency of genetic origin
Leucovorin ( Leucovorin Calcium , Lederle Labs), 08/31/88 For rescue use after high dose methotrexate therapy in the treatment of osteosarcoma
Mefloquine HCl ( Lariam, Hoffmann LeRoche ), 05/02/89 Prophylaxis of plasmodium falciparum malaria which is resistant to other available drugs; and treatment of acute
malaria due to plasmodium falciparum and plasmodium .
Mesna ( Mesnex, Degussa Corp.), 12/30/88 For use as a prophylactic agent in reducing the incidence of ifosfamide-induced hemorrhagic cystitis
Metronidazole topical gel ( Metrogel, Curatek Pharmaceuticals ), 11/22/88 Treatment of acne rosacea
Mitoxantrone HCl ( Novantrone, Lederle Labs ), 12/23/87 Treatment of acute myelogenous leukemia (AML), also referred to as acute nonlymphocytic leukemia (ANLL )

Monooctanoin ( Moctanin, Ethitek ), 10/31/85 Dissolution of cholesterol gallstones retained in the common bile duct
Naltrexone HCl ( Trexan, E.I.Du Pont de Nemours ), 11/30/84 Blockade of the pharmacological effects of exogenously administered opioids as an adjunct to the
maintenance of opioid-free state in detoxified formerly opioid-dependent individuals
Peg-Adenosine deaminase ( Adagen, Enzon), 03/21/90 Enzyme replacement therapy with ADA deficiency in pts with severe combined immunodeficiency ( SCID )
Pentamidine isethionate ( Pentam 300, Lyphomed ), 10/16/84 Treatment of pneumocystis carinii pneumonia
Pentamidine isothionate ( Nebupent, Lyphomed ), 06/15/89 Adjunct in pneumocystis carinii pneumonia in pts at high risk of developing this disease
Pentastarch ( Pentaspan, Dupont Crital Care ), 05/19/87 Adjunct in leukapheresis to improve the harvesting and increase the yield of leukocytes by centrifugal means
Potassium citrate ( Urocit-K, Univ of Texas Health Sciences), 08/30/85 Prevention of uric acid nephrolithiasis,and calcium renal stones in pts with hypocitraturia, and

117
avoidance of complication of calcium stone formation with uric lithiasis
Rifampin ( Rifadin, IV, Merrell Dow Pharmaceuticals ), 05/25/89 Antituberculosis treatment where use of oral form of the drug is not feasible
Selegiline HCl ( Deprenyl, Somerset ), 06/05/89 Adjuvant to levodopa and cabidopa treatment of idiopathic Parkinson's disease (paralysis agitants ), postencephalitic
parkinsonism, and symptomatic parkinsonism
Somatrem ( Protropin, Genetech ), 10/17/85 Long-term treatment of children who have growth failure due to lack of adequate endogenous growth hormone secretion
* it costs about $10,000 a year, for 3 injections a week
* Original, human growth hormone from Serono Labs and Kabi Vitrum pharmaceutical company
Somatropin ( Humatrope, Eli Lilly ), 03/08/87 Long-term treatment of children who have growth failure due to inadequate secretion of normal endogenous growth hormone
Teriparatide ( Parathar, Rorer Pharmaceuticals ), 12/223/87 Diagnostic in pts with hypocalcemia due to either hypoparathyroidism or pseudohypoparathyroidism
Tiopronin ( Thiola, Charles Y.C. Pak M.D. ), 11/08/85 Prevention of cystine nephrolithiasis in pts with homozygous cystinuria
Tranexamic acid ( Cyclokapron, Kabi Vitrum ), 12/30/86 Treatment of pts with congenital coagulopathies who are undergoing surgical procedures: e.g. denatal extractions.
Trientine HCl ( Cuprid, Merck Sharp and Dohme ), 11/08/85 Treatement of pts with Wilson's disease who are intolerant, or inadequately responsive to pencillamine
Urofollitropin ( Metrodin, Serno Labs ), 09/18/86 Induction of ovulation in pts with polycystic ovarian disease who have an elevated LH/FSH ratio and who have failed to
respond to adequate clomiphene citrate therapy
Zidovudine ( Retrovir, Burroughs Wellcome ), 03/19/87 Treatment of AIDS and AIDS related complex

AIDS and AIDS-related 愛滋病及相關藥

AIDS 愛滋病
aldesleukin , interleukin 2 ( Cetus Co) Proleukin
CD4,recombinant ( Biogen, Genetech Inc. )
CD4 recombinant human IgG ( Genetech )
CD4 human truncated 369 polypeptide ( SmithKline Beecham)
dextran sulfate Na , UA 001 (Ueno Fine Chem.Ind.)
diethyldithiocarbamate,DTC ( Connaught Lab Inc) Imuthiol
interferone beta ( Berlex Lab Inc ) Betaseron
poly 1: polyC12U ( HEM Pharmaceut Co. ) Ampligen
zalcitabine,2',3'-dideoxycytidine,DCC ( Hoffmann-LaRoche Inc, NCI )
zidovudine, AZT ( Burroughs Wellcome Co.) Retrovir
** Reverse transcriptase inhibitor : AZT, 3TC ( Merck )
Protease inhibitor : ritonavir ( Abbott ), indinavir ( Merck )
愛滋病: 初期:單核球增加 , 潛伏期 :> 10 年, 持續性全身性淋巴腺腫、免疫障礙 with CD4( T helper cell & macrophage ) < 200
mm3 人類後天免疫不全病毒感染 CD4 淋巴球數< 200 mm3
human immunodeficiency immune globulin ( Abbott Lab. )
H.IV infection with CD4 count less than 400 mm3 人類後天免疫不全病毒感染 CD4 淋巴球數< 400 mm3
human T-lymphotropic virus type III group 160 antigens
Anti-HIV : suramin, ribavirin, AL-721, antimonotungstate (HPA-23 ), fusidic acid, ansamysin, dextran sulfate, ampligen
Acyclovir : 免疫抑制患者帶狀皰疹病毒
敏感性 : 單純性皰疹 > Varicella Zoster virus > EB virus, Cytomegalovirus
機轉 : 抑制 DNA 合成， 與 virual tymidine kinase，guanylate kinase 競爭
其活化代謝物為 ACV-tri-phosphate
AZT ( zidovudine , azidothymidine ) : 被病毒感染但無症狀，且 CD4 細胞數低於 500/mm3 抗 AIDs ( with ddI + ddC+protease
inhibitor )
機轉 : reverse transcriptase inhibitor
DDC : dideoxypyrimidine-2’,3’-dideoxycytidine
DDI : dideoxypyrimidine-2’,3’-dideoxyinosine
Immunomodulators : IL-2, Isoprinosine, -interferone
Immunoenhancer : metenkephalin, MREG-1, AS-101, Immuthiol
Interferons ( alpha : Intron-A ):
- 分類 : interferon  : leukocyte、lymphocyte interferon  : fibroblast
- 機轉 : immunomodulator
- 生物療法適應症 : hairy cell leukemia, condyloma acuminatum (尖型濕疣)、Kaposi’s sarcoma、hepatitis B virus、chronic
granulomatous disease, relapsing-remitting multiple sclerosis
- 副作用 : 類流行性感冒症候群
Anemia, associated with Zidovudine therapy Zidovudine 療法引起之貧血
epoetin alfa ( Ortho Biotech, Amgen Inc. ) Procrit; Epogen
Anorexia, Cachexia, or significant weight loss in AIDS patients 愛滋病引起厭食症﹑惡病質﹐或體重嚴重流失
megestrol acetate (Bristol-Myers Squibb US) Megace
oxandrolone ( Gynex Pharmaceut Inc.) Oxandrin
sermorelin acetate inj. (Serono Lab. ) Geref
dronabinol ( Unimed Inc. ) Marinol
Cytomegalovirus (CMV)infection, prevention and treatment 預防及治療巨細胞病毒感染
anti cytomegalovirus monoclonal Ab ( Biomedical Res. Inst. )
Cytomegalovirus (CMV) infection, Severe Retinitis 巨細胞病毒感染引起之視網膜炎
ganciclovir,DHPG ( Syntex Inc, USA ) Cytovene
Leukopenia secondary to Ganciclovir therapy for Cytomegalovirus Retinitis Ganciclovir 療法引起之白血球減少
filgrastim ( Amgen Inc ) Neupogen
Diarrhea 腹瀉
Bovine colostrum ( Donald H. Hastings, D.V.M. )
Lactobin ( Roxane Lab. Inc. )

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Cryptosporidium parvum diarrhea 寄生蟲感染之腸炎
cryptosporidium hyperimmune bovine colostrum IgG ( Immucell Co. )
Herpes Simplex Encephalitis 單純皰疹
PR-225, redox acyclovir ( Pharmatec Inc. )
Kaposl's sarcoma 卡波西氏肉瘤(多發軟性淺藍色皮膚結節)
interferon alfa-nl ( Burroughs Wellcome Co. ) Wellferone
interferon alfa-2a (Hoffmann-LaRoche Inc. ) Roferon-A
interferon alfa-2b ( Schering Co.) Intron A
interferon beta ( Biogen Inc ) r-IFN-beta
Neurosyphillis 神經性梅毒
PR-239, redox penicillin G ( Pharmatec Inc. )
Neutropenia 嗜中性白血球減低
molgramostim , granulocyte macrophage colony stimulating factor , GM/CSF (Schering Co. ) Leucomax
Pneumocystis carinii Pneumonia 卡氏肺囊蟲黴菌肺炎
clindamycin ( Upjohn Co. ) Cloecin
pentamidine isethionate (Fujisawa Pharmacal Co. ; Fisons Co.) Pentam 300, NebuPent; Pneumopent
piritrexim isethionate ( Burroughs Wellcome Co. )
trimetrexate glucuronate ( US Bioscience Inc )
566C80 ( Burroughs Wellcome Co. )
dapsone ( Jacobus Pharmaceut Co. )
Toxoplasmosis 毒漿體原蟲病弓型蟲腦炎
poloxamer 331 ( CyRx Co. ) Protox

CANCERS 癌

Carcinomas 細胞基底瘤
Adrenal Cortex 腎上腺皮質瘤
gossypol ( Marcus M. Reidenberg, MD )
Breast, Metastatic 轉移型乳癌
6-methylenenandrista-1,4-diene-3,17-dione ( Adria Lab. Inc. )
toremifene ( Adria Lab. Inc. )
Cervix, Invasive 侵襲性子宮頸癌
interferone alfa-2b ( Schering Co.) Intron A
Colorectal, Advance 漸進性結腸直腸癌
fluorouracil with interferone alfa-2a ( Hoffmann-LaRoche Inc. )
Colorectal, metastatic 轉移型結腸直腸癌
anti-TAP-72 immunotoxin (Xoma Co. ) Xomazyme-791
disaccharide tripeptide glycerol dipalmitoyl ( Immuno Therapeutics Inc. ) Immther
leucovorin adjunct with fluorouracil ( Burroughs Wellcome Co; Lederle Lab. )
levoleucovorin with fluorouracil ( Lederle Lab. ) Isovorin
trimetrexate glucuronate ( US Bioscience Inc. )
Esophageal 食道癌
dihematoporphyrin esters (QLT Phototherapeutics Inc. ) Photofrin
fluorouracil with interferone alfa-2a ( Hoffmann-LaRoche Inc. )
Head and Neck, Metastatic ( buccal cavity, pharynx, and larynx ) 咽喉癌
trimetrexate glucuronate ( US Bioscience Inc. )
Hepatocellular and hepatoblastoma 肝細胞及胚細胞癌
iodine 131 murine monoclonal Ab to human alphafetoprotein ( Immunomedics Inc )
Lung, small cell 肺小細胞癌
anti-N901-bR , block ricin murine Ab ( ImmunoGen Inc. )
Lung, Advanced nonsmall cell 漸進性肺細胞癌
trimetrexate glucuronate ( US Bioscience Inc. )
Melanoma, cutaneous 黑色素皮膚癌
interferon beta ( Biogen Inc. ) r-IFN-beta
Melanoma, metastatic 轉移型黑色素皮膚癌
amifostine, chemoprotection with cisplatin (US Bioscience Inc. ) Ethyol
interferon alfa-2a with teceleukin ( Hoffmann LaRoche Inc. )
teceleukin ( Hoffmann LaRoche Inc. )
Melanoma, stage III 黑色素皮膚癌第三期
antimelanoma Ab XMMME-001-RTA ( Xoma Co. )
melanoma vaccine ( RIBI Immunochem Res. Inc. ) Melacine
Ovarian 卵巢癌
amifostine , chemoprotection with cisplatin and cyclophosphamide ( US bioscience Inc. ) Ethyol
BMS-181339 ( Bristol-Myers Squibb )
OncoRad OV ( Cytogen Co. )
Ovarian, advanced 漸進性卵巢癌
altretamine , hexamethylmelamine ( US Bioscience Inc. ) Hexalen
Ovarian, germ cell 卵巢胚細胞癌
interferon alfa-2b ( Schering Co. ) Intron A
Pancreatic 胰臟癌
monoclonal Ab 17-1A ( Centocor Inc. ) Panorex
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 trimetrexate glucuronate ( US Bioscience Inc. )
Renal cell 腎細胞癌
poly 1: polyC12U ( HEM Pharmaceut Co. ) Ampligen
Renal cell, metastatic 轉移型腎細胞癌
aldesleukin, interleukin-2,IL-2 ( Cetus Co. ) Proleukin
interferon alfa-2a (Hoffmann-LaRoche Inc. ) Roferon-A
interferon alfa-2a with teceleukin (Hoffmann-LaRoche Inc. )
interferon beta ( Biogen Inc.) r-INF-beta
teceleukin (Hoffmann-LaRoche Inc. )
Testicular 睪丸癌
ifosfamide ( Bristol-Myers Squibb US ) Ifex
Thyroid, supression of TSH 甲狀腺癌﹐甲狀腺激素壓抑
tiratricol with levothyroxine ( Medgenix Group )
Urinary Bladder, in situ 膀胱癌﹐細胞培植
interferone alfa-2b ( Schering Co.) Intron A
dihematoporphyrin esters (QLT Phototherapeutics Inc. ) Photofrin

SARCOMAS 肉瘤

Leukemias 白血病
Acute , unspecificied 非特定﹑急性
decitabine, 5-AZA-2'-deoxycytidine, DAC ( Pharmachemie BV )
amsacrine (Warner-Lambert Co. ) Amsidyl
B cell B 淋巴球
iodine 131 murine monoclonal Ab IGG2A to B cell ( Immunomedics Inc. ) Immurait
Hairy Cell 毛樣細胞
2-chlorodeoxyadenosine ( R.W. Johnson Pharmaceutic Res. )
pentostatin ( Warner-Lambert Co. )
Lymphoblastic, Acute 淋巴胚細胞
Erwinia L-asparaginase ( Porton Products Ltd.) Erwinase
pagaspargase, PEG-L-asparaginase ( Enzon Inc. )
Lyphocytic, B-cell B 淋巴球
anti-B4-bR, block ricin murine monoclonal Ab ( ImmunoGen Inc. )
Lyphocytic, chronic 淋巴球﹐慢性
2-chlorodeoxyadenosine ( R.W.Johnson Pharmaceutic Res. )
fludarabine phosphate ( Berlex Lab. Inc. )
molgramostim , granulocytic macrophage colony stimulating factor, GM/CSF (Schering Co. ) Leucomax
pentostatin ( warner-Lambert Co. )
Myelogenous Acute ( AML, Acute Nonlymphocytic ANLL ) 骨髓性﹐非淋巴球﹐急性
2-chloro-2'-deoxyadenosine ( St. Jude Children's Hospital )
idarubicin HCl ( Adria Lab. )
mitoxantrone HCl ( Lederrle Lab .) Novantrone
monoclonal Ab, PM-81 ( Medarex Inc. )
Myelogenous Acute, Ex Vivo treatment of Autologus Bone Marrow 骨髓性﹐急性
anti-My9-bR , block ricin murine monoclonal Ab ( ImmunoGen Inc. )
4-hydroperoxycyclophosphamide ( Nova Pharmaceut.Co. ) Pergamid
monoclonal Abs PM-81 and AML-2-23 ( Medarex Inc. )
Myelogenous , chronic 骨髓性﹐慢性
interferon alfa-2a ( Hoffmann-LaRoche Inc. ) Roferon-A
interferon alfa-2b ( Schering Co. ) Intron A
Polymyelocytic, Acute
all-trans retinoic acid ( Hoffmann-LaRoche Inc. )

Lymphomas 淋巴瘤
B-cell B 淋巴球
iodine 131 Lym-1 monoclonal Ab ( Lederle Lab. )
iodine 131 murine monoclonal Ab IgG2A to B cell ( Immunomedics Inc. ) Immurait
monoclonal Ab ( murine or human ) recognizing B-cell lymphoma idiotypes (IDEC Pharmaceut. Co. )
anti-B4-bR ( block ricin murine monoclonal Ab ( ImmunoGen Inc. )
T-cell, Cutaneous T 淋巴球﹐表皮
interferon beta ( Biogen Inc. ) r-IFN-beta
Non-Hodgkin's 非惡性肉芽(霍奇金氏)淋巴瘤
fludarabine phosphate ( Berlex Lab. Inc. )
predimustine ( Kabi Pharmacia Inc. ) Sterecyt
Mycosis fungoide 蕈樣肉芽淋巴瘤
methotrexate with laurocapram ( Whitby Res. Inc. )

Osteogenic 骨源性
methotrexate Na with leucovorin ( Lederle Lab )
methotrexate Na with levoleucovorin ( Lederle Lab. )
Soft Tissue and Bone
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 ifosfamide ( Bristol-Myers Squibb US ) Iflex

MISCELLANEOUS CANCERS 其他癌症

alphafetoprotein-producing Malignant 甲型胎兒蛋白引起之惡性腫瘤
iodine 131 murine monoclonal Ab to human alphafetoprotein ( Immunomedics Inc. )
Brain tumor, primary malignant 原發惡性腦瘤
adenosine , adjuvant to carmustine, BiCNU ( Medco Res. Inc. )
diaziquone ( US Bioscience Inc. )
interferon alfa-2b ( Schering Co. ) Intron A
Serratia marcescens extract , ribosome and vesicles ( Cell Technology ) ImuVert
Glioma, Recurrent Malignant 惡性神經膠瘤﹐復發
carmustine, biodegradable polymer implant ( Nova Pharmaceut. Co. ) Gliadel
Human Chorionic Gonadotropin (hCG)-producing Tumors ( e.g. germ cell and trophoblastic cell tumors )
hCG 導致之胚生殖或外胚胎滋養層細胞瘤
iodine 131 murine monoclonal An to hCG ( Immunomedics Inc. )

CONDITIONS ASSOCIATED WITH MALIGNANCY 惡性腫瘤伴隨之症狀

Bone resorbtion, Increased 骨質再吸收增加
disodium clodronate tetrahydrate (Leiras Oy ) Bonefos
Hypercalcemia 高鈣
etidronate 2Na, i.v. ( MGI Pharma Inc. ) Didronel IV
gallium nitrate ( Fujisawa Pharmaceut. Co. ) Ganite
Neutropenia, secondary to hairy cell leukemia 毛樣細胞白血病引發之嗜中性白血球減少
molgramostim , granulocytic macrophage colony stimulating factor, GM/CSF (Schering Co. ) Leucomax
Thrombocytosis in chronic Myelogenous Leukemia 慢性骨髓白血病引發之血小板增多
anagrelide ( Roberts Pharmaceut. Co. ) Agrenlin

CONDITIONS INDUCED BY ANTINEOPLASTIC AGENTS 抗腫瘤孳生藥物伴隨之症狀

Chemnoprotection 化療保護
amifostine, ovarian with cisplatin and cyclophowsphamide, melanoma, metastatic with cisplatin(US Biosci.Inc.) Ethyol
Prevention of Cardiomyopathy 預防心臟病
dexrazoxane, with doxorubicin therapy (Adria Lab. )
Rescue with Antifolate Therapy 抗葉酸藥物之救護
leucovorin Ca , osteosarcoma with methotrexate ( Lederle Lab. )
Inhibition of Urotoxic Effects 抑制尿毒
mesna with ifosfamide ( Degussa Co.) Mesnex

CONDITIONS ASSOCIATED WITH BONE MARROW TRANSPLANT 骨髓移植伴隨之症狀

ABO incompatability 血型配對錯誤
trisaccharides A & B ( CHEMBIOMED Ltd. )
Cytomegalovirus Infection 巨細胞病毒感染
cytomegalovirus immune globulin IV with ganciclovir ( Cutter Biological/Miles )
ganciclovir, DHPG ( Syntex (USA) Inc ) Cytovene
IgM monoclonal Ab C58 to cytomegalovirus ( Centocor Inc. ) Centovir
Graft vs Host Disease and Transplant Rejection 移植排斥
CD-5 lymphocyte immunotoxin ( Xoma Co.) XOMAZYME-CD5 Plus
ST1-RTA immuotoxin, SR-44163 ( Sanofi Pharmaceut. Inc. )
Thalidomide ( Andrulis Res. Co. , Pediatric Pharmaceuticals )
Neutropenia 嗜中性白血球減低
Filgrastim , G/CSF ( Amgen Inc. ) Neupogen
molgramostim , granulocytic macrophage colony stimulating factor, GM/CSF (Schering Co. ) Leucomax
sargramostim, GM/CSF ( Hochst-Roussel Pharmaceut.Inc; Immunex Co. ) Prokine; Leukine
Oral Mucositis 口腔黏膜炎 associated with cytoreductive therapy
sulcrafate ( Naska Pharmacal Co. )

CONDITIONS ASSOCIATED WITH RADIATION OF HEAD AND NECK 頭頸放射療法伴隨之症狀

Xerostomia 口腔乾燥
pilocarpine HCl, p.o. ( MGI Pharma Inc. ) Salogen

GENETIC DISEASES AND DISORDERS 基因疾病與先天異常

Enzyme Deficiencies 酵素缺乏

Alpha1-Antitrypsin Deficiency in ZZ phenotype population 甲型抗脢蛋白酵素缺乏之遺傳表型
recombinant secretory leucocyte protease inhibitor ( Synergen Inc. )
Alpha1-Proteinase Inhibitor Deficiency ( Pulmonary Emphysema ) 蛋白分解酵素缺乏( 肺氣腫 )
alpha1-proteinase inhibitor ( Cutter Biological/ Miles ) Prolastin
Carnitine deficiency 副肉精缺乏
levocarnitine ( McGaw Inc.; Sigma Tau Pharmaceuticals Inc. ) VitaCam, Carnitor
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Fabry's disease 法畢氏症
alpha-galactosidase A ( David H. Calhoun, Ph.D.; Genzyme Co; Rottert J. Desnick, MD,PhD.) CC-Glacosidase; FABRase
Gaucher's disease 高歇氏症
In Gaucher's disease, the lack of native enzyme results in accumulation of glucocerebroside in tissue macrophages found in the liver, spleen, bone
marrow, and occasionally the lungs. The disease is marked by severe anemia, thrombocytopenia, and progressive hepatosplenomegaly, with
skeletal complications such as osteonecrosis, osteopenia, and secondary fractures. Gaucher's disease affects about 5000 people worldwide, most
often Jews of Eastern European descent.
alglucerase, glucocerebrosidase/beta-glucosidase (Genzyme Corp. ) Ceredase
imiglucerase (Genzyme Corp. ) Cerezyme for type 1 Gaucher’s disease
an analogue of a human lysosomal enzyme, beta-glucocerebrosidase, that catalyzes the hydrolysis of the glycolipid glucocerebroside to glucose and
ceramide.
It has been shown to improve the anemia and thrombocytopenia, reduce liver and spleen enlargement, and reduce cachexia. The drug was
developed as an alternative to alglucerase for injection (Ceredase)
Current costs of Cerezyme production are higher than those for Ceredase, which costs US$150,000 a year for each patient.

levcycloserine ( Meir Lev, Ph D. )

Immunodeficiency, severe combined (SCID )嚴重複合性免疫缺乏
pegademase bovine, PEG-ADA ( Enzon Inc. ) Adagen
Lactic Acidosis 乳酸中毒
sodium dichloroacetate ( Peter W. Stacpoole, MD, PH D )
Urea Cycle Enzyopathy ( Adjunct in prevention and treatment of hyperammonemia )尿素代謝酵素異常
Na benzoate/ Na phenylacetate ( McGaw Inc. ) Ucephan

Disorder of Transport 代謝異常

Cystinuria, Homozygous, Prevention of in Cystine Nephrolithiasis 同種型先天性胱氨酸尿症﹐預防腎胱氨酸結石
tiopronin ( Charles YC Pak, MD; Mission Pharmacal ) Thiola
succimer, DMSA ( McNeil Consumer Products Co. ) Chemet
Cystinosis, Nephopathic 腎胱氨酸代謝障礙導致之腎炎
cysteamine, mercaptamine ( Jess G Thoene, MD; Warner-Lambert Co. )
phosphocysteamine ( Medea Res Lab. Inc. )

Hematologic Disorder 血液異常

ABO incompatability 血型配對異常
trisaccharides A & B ( CHEMBIOMED Ltd. )
Anemia associated with end stage renal disease 腎衰竭末期之貧血
epoetin alfa ( Amgen Inc; Ortho Biotech ) Epogen; Procrit
epoetin beta ( Chugai Pharmaceutical Co. Ltd. ) Marogen
Antithrombin III Deficiency ( Prevention and Treatment of Thrombosis or Emboll ) 抗凝血酵素 III 缺乏( 預防血栓 )
antithrombin III, ATIII ( Cutter Biological/Miles; Hoechest-Roussel Pharmaceuticals Inc.; Kybernin
Hyland Division,Baxter, Healthcare Cop., Kabi Phar macia Inc. ATnativ
American National Red Cross
Aplastic anemia 非再生性貧血
interleukin I alpha ( Immunnnnex Corp. )
molgramostim , granulocytic macrophage colony stimulating factor, GM/CSF (Schering Co. ) Leucomax
Congenital Coagulopathies, treatment of surgical ( dental ) patients 先天性凝血病變之牙科手術病患
tranexamic acid ( Kabi Pharmacis Inc. ) Cyklokapron
Diamond Blackfan Anemia ( Pure Red Cell Aplasia ) 純紅血球非再生性貧血
interleukin 3 , human recombinant ( Immunex Corp. )
Factor XIII deficiency 第八凝血因子缺乏
coagulation factor XIII ( Cutter Biological/Miles; Hoechst-Roussel ) Fibrogammin
Factor IX deficiency 第九凝血因子缺乏
coagulation factor IX, human ( Alpha Therapeutic Corp. ) AlphaNine
factor IX, monoclonal ( Armour Pharmaceutical Co. )
Hemophilia A & B A 及 B 型血友病
factor VIIa , recombinant DNA ( Novo Nordisk Biolabs Inc. )
Hemophilia A, mild A 型血友病﹐輕度
desmopressin acetate , nasal spray ( Rhone-Poulenc Rorer) DDAVP Concentrate
Hemophilia B B 型血友病
factor IX, human ( Alpha Therapeutics Corp. ) AlphaNine
factor IX, monoclonal ( Armour Pharmaceutical Co. )
Heparin replacement in hemodialysis patients at increased risk of hemorrhage 血液透析肝素過量引發之出血
epoprostenol, Prostacyclin PGI2, PGX ( Burroughs Wellcome Co. ) Flolan
MyelodysplasticSyndrome 脊髓發育不良徵候群
filgrastim G/CSF ( Amgen Inc. ) Neupogen
molgramostim , granulocytic macrophage colony stimulating factor, GM/CSF (Schering Co. ) Leucomax
Neutropenia, severe chronic 嚴重慢性嗜中性白血球減低
filgrastim ,G/CSF ( Amgen Inc. ) Neupogen
Polycythemia Vera 真性紅血球過多
anagrelide ( Roberts Pharmaceutical Corp. ) Agrelin

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Purpura, thrombotic thrombocytopenic 栓塞性血小板減少之紫斑症
defibrotide ( Crinos International )
Porphyria, Acute Intermittent; Porphria Variegata; and Hereditary Coproporphria
急性間歇砒咯紫素沉著症﹔雜斑砒咯紫素沉著症﹔遺傳性糞紫質症
hemin ( Abbott Lab. ) Penhematin
heme arginate ( Leiras Oy ) Normosang
histrelin ( Karl E Anderson, MD )
Thrombocytopenia, heparin-associated 肝素引發之血小板減少
anagrelide ( Roberts Pharmaceutical Corp. ) Agrelin
Thrombocytopenia requiring anticoagulation, heparin-induced 肝素引發之血小板減少﹔但抗凝藥必要時
iloprost ( Berlex Lab. )
Thrombocytosis 血小板增多症
anacod ( Knoll Pharmaceuticals ) Arvin
Sickle Cell Anemia 鐮狀細胞性貧血
hydroxyurea ( Bristol-Myers Squibb) Hydrea
Hydroxyurea has been used primarily to treat myeloproliferative disorders such as polycythemia vera. Although the exact mechanism of action in sickle cell
anemia is not completely understood, it is believed that hydroxyurea works by increasing the production of fetal hemoglobin in red blood cells. This may prevent the cells from
becoming rigid and clogging the blood vessels. Hydroxyurea is not currently approved by the U.S. FDA to treat sickle cell anemia
BW12C ( Burroughs Wellcome Co. )
cetiedil citrate ( Baker Cummins Pharmaceuticals )
lysine acetylsalicylate ( GD Searle & Co.) Aspegic
poloxamer 188 ( Burroughs Wellcome Co. ) RheothRx
von Willebrand's disease 第七凝血因子先天缺乏症( 威氏症 )
factor VIIa, recombinant DNA origin ( Novo Nordisk Biolabs Inc. )
desmopressin, nasal spray Rhone-Poulenc Rorer) DDAVP Concentrate

Miscellaneous Genetic Disorders 其他基因異常疾病

Cystic Fibrosi 纖維性囊腫
amiloride HCl sol for Inhalation ( Glaxo Inc. )
dextran sulfate, aerosolized ( Thomas P Kennedy MD & J Hoidal MD ) Aerodex
recombinant human deoxyribonuclease (Genetech Inc. ) DNase
recombinant secretory leucocyte protease inhibitor (Synergen Inc. )
Cystic Fibrosis, prevention and treatment of Pseudomonas aeruginosa
immune globulin, pooled aerosolized ( Pediatric Pharmaceuticals )
mucoid exopolysaccharide pseudomonas hyperimmune globulin ( Univax Biologics Inc. ) MEPIG
Duchenne Muscular Dystrophy 杜氏遺傳性肌肉失養症
mazindol ( Platon J Collipp, MD; Sandoz ) Sanorex
Epidermolysis Bullosa, oral ulceration and dysphagia 泡狀表皮解離﹐口腔炎及吞嚥困難
sucralfate suspension ( Naska Pharacal Co. )
Friedreich's and other inherited Ataxias 斐德烈氏及先天運動失調症
physostigmine salicylate ( Forest Pharmaceuticals Inc. ) Antilirium
Hypercholesterolemia, Homozygous Familial 家族性遺傳高膽固醇症
Na dichloroacetate ( Peter W Stacpoole, MD, Ph D. )
Immunodeficiency, Primary 原發性免役缺陷
aldesleukin ( Cetus Corp. ) Proleukin
PEG interleukin-2 ( Cetus Corp. )
Retinitis pigmentosa 遺傳性色素性視網膜炎
gangliosides , as Na salt ( Fidia Pharmaceutical Corp. ) Cronassial
Wilson's Disease 威爾遜氏脫落性皮炎
trientine HCl ( Merck Sharp & Dohme ) Syprine
zine acetate ( Lemmon Co. )

DISORDERS AFFECTING NEONATES 新生兒異常

Anemia of Prematurity, treatment 治療未成熟型貧血
epoetin alfa ( Ortho Biotech ) Procrit
Apnea of Prematurity, treatment 治療未成熟型呼吸暫停
caffeine ( Pediatric Pharmaceuticals )
Bronchopulmonary Dysplasia in premature neonates ( < 1,500 g ) 早產兒( < 1,500 g )氣管發育不良
recombinant human superoxide dismutase ( Bio Technology General Corp. )
Hemolytic Disease caused by placental transfer of antibodies against blood group sustance A & B 溶血
trisaccharides A & B ( CHEMBIOMED Ltd. )
Hyperbilirubinemia unresponsive to phototherapy 光照無效之新生兒黃疸
flumecinol (Farmacon Inc. ) Zixoryn
Nutrition, total parenteral in very low-birth-weight infants 體重不足嬰兒之全靜脈營養
MVI neonatal formula ( Armour Pharmaceuticals )
Respiratory Distress Syndrome, treatment & prevention 新生兒呼吸困難之預防及治療
beractant, modified bovine lung surfactant extract ( Ross Lab. ) Survanta
calf lung surfactant (ONY Inc. ) Infasurf
colfosceril palmitate/cetyl alcohol/tyloxapol ( Burroughs Wellcome Co. ) Exosurf Neonatal
surfactant, human amniotic fluid ( T Allen Merritt MD.) Human Surf
surfactant, human recombinant DNA ( California Biotechnology )
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 surfactant, synthetic, dipalmitoylphosphatidylcholine[DPCC]/phosphatidylglycerol[PG] ( Britannia Pharmaceut. Ltd) ALEC
Respiratory Syncytial Virus, prophylaxis and treatment 預防與治療融合細胞病毒
Respiratory Syncytial Virus immune globulin ( Medimmune Inc. ) Hyperimmune RSV
immune globulin, pooled, aerosolized ( Pediatric Pharmaceuticals )
Streptococcal infection, group B disseminated B 類散播型鏈球菌感染
group B Streptococcal hyperimmune globulin ( Univax Biologics Inc. )

INFECTION 感染

Bacterial 細菌性感染
Acne Rosacea, and Anaerobic Decubitus Ulcers, grade III & IV 酒糟鼻及厭氧性褥瘡﹔第三及第四級
metronidazole, topical ( Curatek Pharmaceuticals Inc. ) MetroGel
Clostridium botulinum 臘腸毒梭菌, infant Botulism
botulism immune globulin, human ( California Dept. of Health Servives: SIDS-infant Botulism Prevention Program)
Clostridium difficile, antibiotic-associated Pseudomembranous enterocolitis 抗生素引起之假膜性腸炎
bacitracin ( A.L. Lab. Inc. ) Altracin
Endotoxic shock secondary to gram-negative bacteremia 革蘭氏陰性細菌導致之內毒素休克
nebacumab, anti-J5mAb ( Centocor Inc. )

Mycobacterial 分枝桿菌感染
Leprosy 痲瘋
clofazimine ( Ciba-Geigy Corp. ) Lamprene
thalidomide ( Pediatric Pharmaceuticals )
Mycobacterium avium -intracellulare infection 禽類結核放線桿菌病
gentamicin liposome inj, TLC G-65 ( Liposome Co. )
piritrexim isethionate ( Burroughs Wellcome Co. )
rifabutin ( Adria Lab. )
Tuberculosis 肺結核
aconiazide ( Lincoln Diagnostics )
rifampin, inj ( Marion Merrell Dow Inc. ) Rifadin, i.v.

Mycosis, systemic 全身性黴菌感染

Cryptococcal Meningitis 囊球菌腦膜炎
amphotericin B lipid complex ( Bristol-Myers Squibb )

Protozoal 原蟲病感染
Gambian sleeping sickness produced by Trypanosoma brucel 布氏錐蟲感染之甘比亞睡眠病
eflornithine HCl, DFMO ( Marion Merrell Dow Inc. ) Ornidyl
Plasmodium falciparum malaria, chloroquine-resistant 鐮狀日日瘧原蟲﹐chloroquine 抗藥性
mefloquine HCl ( Mepha Ltd; Hoffmann-LaRoche Inc ) Mephaquin, Lariam
Plasmodium falciparum, acute and P. vivax malaria, prophylaxis 預防鐮狀日日瘧及微細間日瘧原蟲
mefloquine HCl ( Hoffmann-LaRoche Inc ) Lariam
Plasmodium falciparum, P. vivax malaria, tretament 治療鐮狀日日瘧及微細間日瘧原蟲
halofantrine ( SmithKline Beecham ) Halfan
Pneumocystis carinii pneumonia 卡氏肺囊蟲肺炎
clindamycin ( Upjohn Co. ) Cleocin
pentamidine isethionate ( Fujisawa Pharmacal Co.) Pentam 300
piritrexim isethionate ( Burroughs Wellcome Co. )
trimetrexate glucuronate ( US Bioscience Inc. )
dapsone (Jacobus Pharmaceutical Comp. )
Toxoplasmosis 毒漿原蟲
piritrexim (Burroughs Wellcome Co. )

Poisoning 中毒
Acetaminophen Overdose Acetaminophen 過量
acetylcysteine, i.v. ( Apothecon ) Mucomyst 10 IV
Alcohols ( methanol, ethylene glycol , 2-methoxyethanol, 2-butoxyethanol ) 酒精中毒
formepizole, 4-methylpyrazole ( Kenneth McMartin )
Ethylene glycol poisoning
Antizol (fomepizole): Approved December 1997; commonly known as 4-MP (4-methylpyrazole), is a synthetic alcohol dehydrogenase inhibitor. effectively blocks formation of
toxic ethylene glycol metabolites, which are responsible for metabolic acidosis and renal damage.
Ethylene glyccol intoxication : a syndrome that can include central nervous system depression, severe metabolic acidosis, renal failure, and coma. It can be lethal if left
untreated or when treatment is delayed due to delayed diagnosis.
Amanita phalloides ( Mushrrom ) hepatotoxicity 白瓢毒蕈引起之肝毒
disodium silibinin dihemisuccinate ( Pharmaquest Corp. & Dr. Madaus GmBH & Co.) Legalon
Cardiac glycoside intoxication 毛地黃中毒
digoxin immune Fab, ovine (Burroughs Wellcome Co. ) Digibind
Envenomation by Rattlesnakes ( Crotalidae ) 響尾蛇抗毒血清
antivenin (Crotalidae) purified, avian ( Orphidian Pharmaceuticals Inc. )
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Cyanide poisoning, Severe Acute 急性氰化物中毒
hydroxocobalamin/ sodium thiosulfate ( Alan H Hall, MD. )
Iron Poisoning, acute 急性鐵劑中毒
dextran and deferoxamine ( Biomedical Frontiers Inc. ) Bio-Rescue
Lead poisoning in children 兒童鉛中毒
succimer, DMSA ( McNeil Consumer Products Co. ) Chemet
Mercury Poisoning 汞中毒
succimer, DMSA ( McNeil Consumer Products Co. ) Chemet
Oral drug overdose 口服藥過量
cascara sagrada, fluid extract, inj. ( Intramed Corp. )
Opioid Addition 類嗎啡藥物成癮
alphacetylmethadol, LAAM ( National Institute of Drug Abuse )
naltrexone HCl ( Du Pont Merck Pharmaceutical Comp. ) Trexan

BONE DISORDERS 骨骼異常

Metabolic Bone Disease Secondary to parenteral Nutrition, prevention and treatment 全靜脈營養導致之骨骼代謝異常
etidronate, i.v. ( MGI Pharma Inc. ) Didronel IV
Paget’s Disease ( Osteltis Deformans ) 柏哲德氏骨骼變形
calcitonin, human ( Ciba-Geigy Corp. ) Cibacalcin
Osteomyelitis, chronic 慢性骨髓炎
gentamicin, impregnated PMMA beads on surgical wire ( E Merck, Darmstadt )
secalciferol ( TAG Pharmaceuticals Inc. c/o Lemmon Comp. )

CARDIAC DISORDERS 心臟異常

Ventricular Fibrillation, primary, treatment & prevention 預防與治療心室纖維顫動
bethanidine sulfate ( Medco Res. Inc. )
Ventricular tachyarrhymias, treatment & prevention 預防與治療心室搏動過速
D,L-sotalol HCl ( Bristol-Myers Squibb )
Automatic implantable cardioverter defibrilator Therapy, adjunct to 人工節律器之佐劑
N-acetylprocainamide

ENDOCRINE DISORDERS 內分泌異常

Constitutional delay of growth and puberty 生長與青春期遲緩
oxandrolone ( Gynex Pharmaceuticals Inc. ) Oxandrin
testosterone, sublingual (Gynex Pharmaceuticals Inc. ) Androtest-SL
Growth failure 生長障礙
human growth hormone releasing factor ( Hoffmann-LaRoche Inc. )
sermorelin acetate, GRF 1-29NH2 ( Serone Lab. Inc. ) Geref
SK&F 110679 ( SmithKline Beecham )
somatrem ( Genentech Inc. ) Protropin
somatropin ( Eli Lilly & Comp.) Humatrope
Genentech Inc.
Novo Nordisk Pharmaceuticals Inc. Norditropin
Serono Lab. Inc. Saizen
Induction of ovulation 排卵
Leuteinizing hormone releasing hormone, GnRH ( Ortho Pharmaceutical Corp. )
somatropin ( Novo Nordisk Pharmaceuticals Inc. ) Norditropin
urifollitropin ( Serono Lab. Inc. ) Metrodin
Myxedema coma 甲狀腺缺失黏液水腫性昏迷
liothyronine Na inj ( SmithKline Beecham )
Precocious puberty 早熟
histrelin (Ortho Pharmaceutical Corp. )
leuprolide acetate ( TAP Pharmaceuticals Inc. ) Leupron Inj.
Deslorelin ( Roberts Pharmaceutical Corp. ) Somagard Inj.
Nafarelin acetate ( Syntex (USA) Inc. )
Turner’s Syndrome 圖那氏性染色體異常引起之生長遲滯
ethinyl estradiol ( Gynex Pharmaceuticals, Inc. ) Estrafem
oxandrolone (Gynex Pharmaceuticals, Inc. ) Oxandrin
somatrem ( Genentech Inc. ) Protropin
somatropin ( Eli Lilly & Comp.) Humatrope
Genentech Inc.
Novo Nordisk Pharmaceuticals Inc. Norditropin

EYE DISORDERS 眼睛異常

Acceleration of Corneal Epithelial regeneration healing of stromal tissue 角膜上皮細胞基質再生
fibronectin, human plasma ( Chiron Ophthalmics, New York Blood Center )
Blepharospasm, essential 自發性眼瞼痙攣
botulinum F Toxin ( Porton Products Ltd. )
Corneal Erosion, recurrent 復發性角膜糜爛
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 dehydrex ( Holles Labs. )
Corneal Melting Syndrome 角膜溶解症候
cyclosporine 2% opthalmic ( Sandoz Pharmaceutical Corp.) Sandimmune
Corneal ulcers 角膜潰瘍
GM 6001 ( Glycomed Inc. )
ofloxacin ( Allergan Inc. )
Keratoconjunctivitis sicca 乾性角膜結膜炎
bromhexine ( Boehringer Ingelheim Pharmaceuticals Inc. )
cyclosporine ophthalmic ( Sandoz res. Inst. ) Sandimmune
Keratoconjunctivitis, vernal ( VKC ) 春季結合膜炎
cromolyn Na, 4 % ophthalmic sol. ( Fisons Corp. ) Opticrom 4%
levocabastine HCl, 0.05% ophthalmic sol. ( Lolab Corp. )
Mydriasis, phenylephrine-induced in pts with narroe anterior angies at risk of developing acute glaucoma
moxisylyte, thymoxamine HCl, 0.1 % Ophthalmic sol. ( Lolab Corp. )
Penetrating keratoplasty, graft rejection 角膜修補移植
cyclosporine, 0.2% ophthalmic ( Sandoz Pharmaceutical Corp. ) Sandimune
Retinitis Pigmentosa 色素性視網膜炎
gangliosides Na ( Fidia Pharmaceutical Corp. ) Cronassial
Squamous Metaplasiaof ocular surface epithelia ( conjunctiva and/or cornea) with mucus deficiency and keratinization
眼瞼與角膜鱗狀上皮不正常變化﹐黏膜缺失﹑角質化
tretinolin ( Spectra Pharmaceutical Services, Inc. )
Strabismus and Blepharospasm 斜視與瞼痙攣
botulinum A Toxin (Allergan Pharmaceutical Corp.; Porton International. ) Oculinum; Dysport

GASTROINTESTINAL DISORDERS 腸胃異常

Biliary cirrhosis, primary 原發性膽汁硬變
ursodiol ( Ciba-Geigy Corp; Interfalk US, Inc. ) Actigall; Ursofalk
Esophageal varices 食道靜脈曲張
ethanolamine oleate ( Block Drug Comp. ) Ethamolin
Na tetradecyl sulfate ( Elkins-Sinn Inc. ) Sotradecol
terlipressin ( Ferring AB ) Glypressin
Fistulas, secreting enterocutaneous 腸及皮膚分泌廔管
somatostatin ( Ferring Lab. Inc. ) Zecnil
Gallstones 膽結石
chenodiol ( Solvay Pharmaceuticals ) Chenix
monoactanoin ( Ethitek Pharmaceuticals Co. ) Moctanin
Ulcerative colitis, mild to moderate 潰瘍性結腸炎
4-aminosalicylic acid ( Warren L. Beeker, MD. )
Ulcerative colitis, active phase, left side 左側潰瘍性結腸炎﹐發作期
short-chain fatty acid sol ( Richard Breuer, MD. )

DISORDERS AFFECTING KIDNEY AND URINARY TRACT 腎及尿道異常

Calcium renal stone formation and uric acid nephrolitheasis, prevention 腎臟鈣﹑尿酸結石之預防
potassium citrate ( Charles YC Pak, MD; Mission Pharmacal Co. ) Urocit-K
Calculli, apatite and struvite 鈣結石﹑磷灰石﹑結石
citric acid, gluco-delta-lactone, and magnesium carbonate ( United-Guardian Inc. )Renacidin
Cysteine nephrolithiasis 半胱氨酸腎結石
succimer, DMSA ( McNeil Consumer Products Co. ) Chemet
tiopronin ( Charles YC Pak, MD; Mission Pharmacal Co. ) Thiola
Cystitis, interstitial 間質性膀胱炎
nifedipine ( Johnathan Fleischmann, Md. )
pentosan polysulfate Na ( Baker Cummins Pharmaceuticals ) Elmiron
Carnitine Deficiency 副肉精缺乏
levocarnitine , L-carnitine ( McGaw Inc; Sigma Tau Pharmaceuticals Inc. ) VitaCam; Carnitor
Hyperphosphatemia 低磷血症
calcium acetate ( Braintree Lab .; Pharmedic Comp.) Phos-Lo
calcium carbonate ( R & D lab. )

Neurological disorders 神經異常

Amyotropic lateral sclerosis ( ALS )肌萎縮性側索硬化
insulin-like growth factor-1, recombinant human ( Cephalon Inc.) Myotrophin
L-leucine,L-isoleucine, and L-valine ( Andeas Plaitakis, MD )
L-threonine ( Tyson & Associates ) Threostat
Epilepsy ( Lennox-Gastaut Syndrome ) 癲癇
felbamate ( wallace Lab. )
Epilepsy , generalized tonic-clonic 強直-陣攣性全身發作癲癇
antiepilepsine ( Philp Walson, MD. )
Status Epilepticus 連續癲癇性抽搐
fosphenytoin ( Warner-Lambert Comp. )

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 PR-122 , redox phenytoin ( Pharmatec Inc. )
PR-320, cyclodextran carbamazepine ( Pharmatec Inc. ) Molecusol carbamazepine
Duchenne Muscular Dystrophy 進行性肌失養症
mazindol ( Platon J Collipp, MD. ; Sandoz ) Sanorex
Friedreich’s and other inherited ataxias 遺傳性(脊柱硬化)運動失調
Physostigmine salicylate ( Forest Pharmaceuticals Inc. ) Antilirium
Lambert-Eaton Myasthenic Syndrome 肌無力症
3,4-diaminopyridine ( Jacobus Pharmaceutical Comp. & Mayo Foundation ) Dynamine
Multiple sclerosis 多發性(腦部)硬化
4-aminopyridine ( Rush-Presbyterian-St. Luke’s Med. Center; Elan Pharmaceutical Res. )
chimeric M-T412 , human murine igG monoclonal anti-CD4 ( Centocor Inc. )
copolymer 1, COP 1 ( TAG Pharmaceuticals Inc. c/o Lemmon Comp. )
interferon beta ( Berlex Lab. Inc. ) Betaeron
myelin ( Autoimmune Inc )
Myoclonus 肌陣攣
piracetam ( UCB Secteur Pharmaceutique ) Nootropil
Myoclonus, postanoxic 缺氧後肌陣攣
L-5-hydroxytryptophan, L-5HTP ( Bolar Pharmaceutical Co. Inc. )
Narcolepsy and cataplexy 發作性睡病與猝倒
Na oxybate, Na gamma hydroxybutyrate ( Sigma F & D Division Inc; Biocraft Lab. Inc. )
Neuroleptic malignant syndrome 惡化性精神病
dantrolene Na ( Norwich Eaton Pharmaceuticals Inc. ) Dantrium
Prakinson’s disease ( adjuvant to levodopa or levodopa/carbidopa treatment ) 巴金森氏震顫麻痺症
selegiline HCl , deprenyl ( Somerset Pharmaceuticals ) Eldepryl
Spasticity, intractable caused by multiple sclerosis or spinal cord injury 多發性(腦部)硬化或脊椎受傷導致之頑性肌痙攣
baclofen, intrathecal ( Medtronic Inc. ) Lioresal
baclofen ( Infusaid Inc. )
L-baclofen ( Mericon Industries Inc. ) Neuralgon
Trigerminal neuralgia 三叉神經痛
L-baclofen ( Gerhard H. Fromm, MD. )

SKIN DISORDER 皮膚異常

Acne Rosacea 酒糟鼻痤瘡
metronidazole, topical ( Curatek Pharmaceuticals Inc. ) MetroGel
Anerobic Decubitus Ulcers ( grade III & I V ) 厭氧性褥瘡﹐第三﹑四級
metronidazole, topical ( Curatek Pharmaceuticals Inc. ) MetroGel
Cutaneous wound healing in burn patients 燒傷病患表皮傷口癒合
epidermal growth factor, human ( Ethicon Inc. )
GM-CSF ( Schering Corp. ) Leucomax
poloxamer 188 ( Burroughs wellcome Co. ) Rheothrx
Hydrofluric acid burns, emergency treatment 氫氟酸燒傷急救
calcium gluconate gel 2.5% (LTR Pharmaceuticals Inc. ) H-F Gel
Prevention of graft loss on burn wounds 燒傷皮膚移植保護
mafenide acetate ( Sterling Drugs Inc. ) Sulfamylon
Dermatitis herpetiformis 皰疹
sulfpyridine ( Jacobus Pharmaceutical Comp. )
Xeroderma pigmentosum 著色性乾皮病
T4 endonuclease V, liposome encapsulated ( Applied Genetics inc. ) T4N5

MISCELLANEOUS CONDITIONS 其他
Angioedema, treatment and prevention 預防及治療血管水腫
C1-inhibitor, human, vapor ( Immuno Clinical Res. Corp. ) IMMUNO
Arthritis, juvenile 幼兒型關節炎
interleukin 1 receptor antagonist, human recombinant ( Synergen Inc. ) Antril
Asthma, severe, requiring steroid 類固醇依賴之嚴重氣喘
troleandomycin ( Stanley J Szefler Md. ; Roerig ) TAO
Burn patients, nitrogen retention 燒傷性血氮滯留
somatropin ( Serono Lab. Inc. ) Saizen
Granulomatous disease, chronic 慢性肉芽腫
interferon gamma-1b ( Genentech Inc. ) Actimmune
Hemorrhagic fever with renal syndrome 腎出血性發燒
ribavirin ( ICN Pharmaceuticals Inc. ) Virazole
Hirsutism 多毛症
cyproterone acetate ( Berlex Lab. ) Cyproeron/Androcure
Hypertension, primary pulmonary 肺原發性高血壓
epoprostenol , prostacyclin, PGI2, PGX ( Burroughs Wellcome Co. ) Flolan
Hypotension, idiopathic orthostatic 自發姿態性低血壓
midodrine HCl ( Roberts Pharmaceutical Corp. ) Amatine
Mastocytosis 著色性蕁麻症
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 cromolyn Na ( Fisons Corp. ) Gastrocrom
Microsugrical peripheral nerve repair, adjunct 微手術周邊神經修護之佐劑
leupeptin ( Lawrence C Hurst, MD. )
Raynaud’s phenomenon secondary to systemic sclerosis 全身硬化引起之雷諾徵候(肢端發紺)
iloprost ( Berlex Lab. )
Reflex sympathetic dystrophy and causalgia, moderate to severe 反射性交感神經失常灼痛
guanethidine monosulfate ( Ciba-Geigy Corp. ) Ismelin IV
Vulvar dystrophies 陰戶營養失常
testosterone propionate oint 2% ( Star Pharmaceuticals Inc. )

Orphan Designations and Approvals by FDA

This list contains products that are currently designated as orphans by the Office of Orphan Products Development. Those designated products that are also approved for
marketing will have a status listing of "dsgapprove" as well as a marketing approval date.

Generic Name: 1,5-(Butylimino)-1,5 dideoxy,D-glucitol Trade Name:

Orphan Indication: 1). Treatment of Fabry's disease. 2). Treatment of Gaucher disease.
Sponsor: Oxford GlycoSciences Contact: Mr. Bruce Manning
Address: Oxfordshire OX14 3YS, UK Phone: (508) 393-3100 Fax: (508) 393-3780
Status: Designated Designation Date: 12-May-98(1), 29-May-98(2) Marketing Approval Date:

Generic Name: 1-(11-dodecylamino-10-hydroxyundecyl)-3,7-dimethylxanthine hydrogen methanesulfonate Trade Name:

Orphan Indication: Treatment of hormone refractory prostate carcinoma.
Sponsor: Cell Therapeutics, Inc. Contact: Ms. Jennie Allewell
Address: Seattle, WA Phone: (206) 282-7100 Fax:
Status: Designated Designation Date: 18-Jan-00 Marketing Approval Date:

Generic Name: 111-Indium pentetreotide Trade Name: SomatoTher

Orphan Indication: Treatment of somatostatin receptor positive neuroendocrine tumors.
Sponsor: Louisiana State University Medical Center Foundation Contact: Mr. James Hardy
Address: New Orleans, LA Phone: (504) 568-3712 Fax: (504) 568-3460
Status: Designated Designation Date: 10-Jun-99 Marketing Approval Date:

Generic Name: 15AU81 Trade Name:

Orphan Indication: Treatment of pulmonary arterial hypertension.
Sponsor: United Therapeutics Corp. Contact: Mr. Dean Bunce
Address: Research Triangle Park, NC Phone: (919) 485-8352 Fax: (919) 485-8352
Status: Designated Designation Date: 04-Jun-97 Marketing Approval Date:

Generic Name: 166Ho-DOTMP Trade Name:

Orphan Indication: Treatment of multiple myeloma.
Sponsor: NeoRx Corporation Contact: Dr. Robert Caspari
Address: Seattle, WA Phone: (206) 281-7001 Fax:
Status: Designated Designation Date: 10-Feb-99 Marketing Approval Date:

Generic Name: 2'-3'-dideoxyadenosine Trade Name:

Orphan Indication: Treatment of aquired immunodeficiency syndrome.
Sponsor: National Cancer Institute, Dct Contact: Dr. Jay Greenblatt
Address: Bethesda, MD Phone: (301) 496-7912 Fax:
Status: Designated/Withdrawn Designation Date: 21-Jul-87 Marketing Approval Date:

Generic Name: 2'-deoxycytidine Trade Name:

Orphan Indication: As a host-protective agent in the treatment of acute myelogenous leukemia.
Sponsor: Grant, Steven M.D. Contact: Dr. Steven Grant
Address: Richmond, VA Phone: (804) 828-5122 Fax: (804) 828-8079
Status: Designated Designation Date: 09-Sep-96 Marketing Approval Date:

Generic Name: 2-0-desulfated heparin Trade Name: Aeropin

Orphan Indication: Treatment of cystic fibrosis.
Sponsor: Kennedy & Hoidal, M.D.'s Contact: Dr. John Hoidal
Address: Salt Lake City, UT Phone: (704) 355-2000 Fax:
Status: Designated Designation Date: 17-Sep-93 Marketing Approval Date:

Generic Name: 24,25 dihydroxycholecalciferol Trade Name:

Orphan Indication: Treatment of uremic osteodystrophy.
Sponsor: Lemmon Company Contact: Ms. Deborah Jaskot
Address: Kulpsville, PA Phone: (215) 256-8400 Fax:
Status: Designated Designation Date: 27-Feb-87 Marketing Approval Date:

Generic Name: 3'-azido-2',3'dideoxyuridine Trade Name: AZDU

Orphan Indication: Treatment of acquired immunodeficiency syndrome.
Sponsor: Berlex Laboratories, Inc. Contact: Donald Gay
Address: Alameda, CA Phone: (510) 769-4985 Fax:
Status: Designated/Withdrawn Designation Date: 20-Nov-89 Marketing Approval Date:

Generic Name: 3,4-diaminopyridine Trade Name:

Orphan Indication: Treatment of Lambert-Eaton myasthenic syndrome.
Sponsor: Jacobus Pharmaceutical Company Contact: Dr. Neil Lewis
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Address: Princeton, NJ Phone: (609) 921-7447 Fax:
Status: Designated Designation Date: 18-Dec-90 Marketing Approval Date:

Generic Name: 3,5,3'-triiodothyroacetate Trade Name:

Orphan Indication: Treatment of well-differentiated papillary, follicular or combined papillary/follicular carcinomas of the thyroid gland.
Sponsor: Elliot Danforth, Jr., M.D. Contact: Dr. Elliot Danforth, Jr.
Address: Underhill, VT Phone: 8028992349 Fax: 8028992349
Status: Designated Designation Date: 20-Sep-99 Marketing Approval Date:

Generic Name: 3-(3,5-Dimethyl-1H-2ylmethylene)-1,3-dihydro-indol-2-one Trade Name:

Orphan Indication: 1). Treatment of von Hippel-Lindau disease. 2). Treatment of Kaposi's sarcoma.
Sponsor: Sugen, Inc. Contact: Dr. Paul Scigalla
Address: South San Francisco, CA Phone: (650) 553-8792 Fax: (650) 553-8314
Status: Designated Designation Date: 23-Mar-00 (1), 11-Sep-98(2), Marketing Approval Date:

Generic Name: 4-aminosalicylic acid Trade Name: Pamisyl (P-D), Rezipas (Squibb)
Orphan Indication: Treatment of mild to moderate ulcerative colitis in patients intolerant to sulfasalazine.
Sponsor: Beeken, Warren M.D. Contact: Dr. Warren Beeken
Address: Burlington, VT Phone: (802) 656-2554 Fax:
Status: Designated Designation Date: 13-Dec-89 Marketing Approval Date:

Generic Name: 40SD02 Trade Name:

Orphan Indication: Treatment of chronic iron overload resulting from conventional transfusional treatment of beta-thalassemia major and sickle cell anemia.
Sponsor: Biomedical Frontiers, Inc. Contact: Dr. Paul Dragsten
Address: Minneapolis, MN Phone: (612) 378-0228 Fax: 6123783601
Status: Designated Designation Date: 21-Dec-98 Marketing Approval Date:

Generic Name: 5,6-dihydro-5-azacytidine Trade Name:

Orphan Indication: Treatment of malignant mesothelioma.
Sponsor: ILEX Oncology, Inc. Contact: Mr. Edward Martinez
Address: San Antonio, TX Phone: (210) 949-8270 Fax: (210) 949-8282
Status: Designated Designation Date: 11-May-92 Marketing Approval Date:

Generic Name: 5-aza-2'-deoxycytidine Trade Name:

Orphan Indication: Treatment of acute leukemia.
Sponsor: SuperGen, Inc. Contact: Dr. Sam Boddapati
Address: Dublin, CA Phone: 9255600100 Fax: 9255516472
Status: Designated Designation Date: 03-Aug-87 Marketing Approval Date:

Generic Name: 506U78 Trade Name:

Orphan Indication: Treatment of chronic lymphocytic leukemia.
Sponsor: Glaxo Wellcome, Inc. Contact: Ms. Marna Doucette
Address: Research Triangle Park, NC Phone: (919) 483-6222 Fax:
Status: Designated Designation Date: 02-Sep-99 Marketing Approval Date:

Generic Name: 5a8, monoclonal antibody to CD4 Trade Name:

Orphan Indication: For use in post-exposure prophylaxis for occupational exposure to human immunodeficiency virus.
Sponsor: Biogen, Inc. Contact: Ms. Sylvie Gregoire
Address: Cambridge, MA Phone: (617) 679-2631 Fax: (617) 679-3170
Status: Designated/Withdrawn Designation Date: 20-Dec-93 Marketing Approval Date:

Generic Name: 6-hydroxymethylacylfulvene Trade Name:

Orphan Indication: 1). Treatment of renal cell carcinoma. 2). Treatment of ovarian cancer. 3). Treatment of histologically confirmed advanced or metastatic pancreatic cancer.
Sponsor: MGI Pharma, Inc. Contact: Dr. Jo Gustafson
Address: Bloomington, MN Phone: 9523464722 Fax: (612) 346-4800
Status: Designated Designation Date: 27-Jul-99(1), 06-Jul-99(2), 06-Apr-99(3) Marketing Approval Date:

Generic Name: 8 Cyclopentyl 1,3-dipropylxanthine Trade Name:

Orphan Indication: Treatment of cystic fibrosis.
Sponsor: SciClone Pharmaceuticals, Inc. Contact: Mr. David Wilgus
Address: San Mateo, CA Phone: 6503583456 Fax: (415) 358-3469
Status: Designated Designation Date: 24-Mar-97 Marketing Approval Date:

Generic Name: 8-methoxsalen Trade Name: Uvadex

Orphan Indication: 1). For the prevention of acute rejection of cardiac allografts. 2). For use in conjunction with the UVAR photopheresis to treat diffuse systemic sclerosis.
Sponsor: Therakos, Inc. Contact: Ms. Roberta Acchione
Address: Exton, PA Phone: (610) 280-1008 Fax:
Status: Designated Designation Date: 12-May-94 (1), 22-Jun-93( 2), Marketing Approval Date:

Generic Name: 9-cis retinoic acid Trade Name: Panretin

Orphan Indication: Treatment of acute promyelocytic leukemia.
Sponsor: Ligand Pharmaceuticals, Inc. Contact: Dr. Howard Holden
Address: San Diego, CA Phone: (619) 550-7600 Fax: (619) 625-9524
Status: Designated Designation Date: 10-Apr-92 Marketing Approval Date:

Generic Name: 9-cis-retinoic acid Trade Name:

Orphan Indication: Prevention of retinal detachment due to proliferative vitreoretinopathy.
Sponsor: Allergan, Inc. Contact: Dr. Trudy Rumbaugh
Address: Irvine, CA Phone: (714) 246-4292 Fax: (714) 246-4272
Status: Designated/Withdrawn Designation Date: 02-Jan-97 Marketing Approval Date:

Generic Name: 9-nitro-20-(S)-camptothecin Trade Name:

129
Orphan Indication: Treatment of pancreatic cancer.
Sponsor: Stehlin Foundation for Cancer Research Contact: Dr. Beppino Giovanella
Address: Houston, TX Phone: (713) 659-1336 Fax: (713) 659-1503
Status: Designated Designation Date: 16-Sep-96 Marketing Approval Date:

Generic Name: Abetimus Trade Name:

Orphan Indication: Treatment of lupus nephritis.
Sponsor: La Jolla Pharmaceutical Co. Contact: Dr. Andrew Wiseman
Address: San Diego, CA Phone: (858) 452-6600 Fax:
Status: Designated Designation Date: 28-Jul-00 Marketing Approval Date:

Generic Name: Acetylcysteine Trade Name: Mucomyst/Mucomyst 10 IV

Orphan Indication: Intravenous treatment of patients presenting with moderate to severe acetaminophen overdose.
Sponsor: Apothecon Contact: Dr. Walter Jump
Address: Princeton, NJ Phone: 6098972470 Fax: (609) 897-5515
Status: Designated Designation Date: 13-Aug-87 Marketing Approval Date:

Generic Name: Aconiazide Trade Name:

Orphan Indication: Treatment of tuberculosis.
Sponsor: Lincoln Diagnostics Contact: Mr. Gary Hein
Address: Decatur, IL Phone: (800) 537-1336 Fax:
Status: Designated Designation Date: 20-Jun-88 Marketing Approval Date:

Generic Name: Adeno-associated viral-based vector cystic fibrosis gene therapy Trade Name:
Orphan Indication: Treatment of cystic fibrosis.
Sponsor: Targeted Genetics Corporation Contact: Mr. Barry Polenz
Address: Seattle, WA Phone: (206) 521-7818 Fax: (206) 223-0288
Status: Designated Designation Date: 15-Feb-95 Marketing Approval Date:

Generic Name: Adenosine Trade Name:

Orphan Indication: For use in conjunction with BCNU in the treatment of brain tumors.
Sponsor: Medco Research, Inc. Contact: Dr. Sam Teichman
Address: Los Angeles, CA Phone: (213) 966-4155 Fax:
Status: Designated/Withdrawn Designation Date: 01-Aug-89 Marketing Approval Date:

Generic Name: Adenovirus-based vector Factor VIII complementary DNA to somatic cells Trade Name: MiniAdFVIII
Orphan Indication: Treatment of hemophilia A.
Sponsor: GenStar Therapeutics Corporation Contact: Dr. Carolyn Sidor
Address: San Diego, CA Phone: (919) 361-2286 Fax: (919) 361-2290
Status: Designated Designation Date: 15-Dec-99 Marketing Approval Date:

Generic Name: Aerosolized pooled immune globulin Trade Name:

Orphan Indication: Treatment of respiratory syncytial virus lower respiratory tract disease.
Sponsor: Pediatric Pharmaceuticals, Inc. Contact: R.C. Stites
Address: Westfield, NJ Phone: (908) 225-0989 Fax:
Status: Designated/Withdrawn Designation Date: 03-Jan-89 Marketing Approval Date:

Generic Name: AI-RSA Trade Name:

Orphan Indication: Treatment of autoimmune uveitis.
Sponsor: AutoImmune, Inc. Contact: Dr. Malcolm Fletcher
Address: Lexington, MA Phone: (617) 860-0710 Fax: (617) 860-0705
Status: Designated/Withdrawn Designation Date: 08-Oct-92 Marketing Approval Date:

Generic Name: Albendazole Trade Name: Albenza

Orphan Indication: 1). Treatment of hydatid disease (cystic echinococcosis due to E. granulosus larvae or alveolar echinococcosis due to E. multilocularis larvae). 2).
Treatment of neurocysticercosis due to Taenia solium as: 1) chemotherapy of parenchymal, subarachnoidal and racemose (cysts in spinal fluid) neurocysticercosis in
symptomatic cases and 2) prophylaxis of epilepsy and other sequelae in asymptomatic neurocysticercosis.
Sponsor: SmithKline Beecham Pharmaceuticals Contact: Ms. Debra Hackett
Address: Philadelphia, PA Phone: (215) 751-4000 Fax: (215) 751-3400
Status: Designated/Approved Designation Date: 17-Jan-96(1), 18-Jan-96(2) Marketing Approval Date: 11-Jun-96 (1), 11-Jun-96(2)

Generic Name: Aldesleukin Trade Name: Proleukin

Orphan Indication: 1). Treatment of primary immunodeficiency disease associated with T-cell defects. 2). Treatment of metastatic melanoma. 3). Treatment of metastatic renal
cell carcinoma. 4). For the treatment non-Hodgkin's lymphoma. 5). Treatment of acute myelogenous leukemia.
Sponsor: Chiron Corporation Contact: Ms. Mary O'Hara
Address: Emeryville, CA Phone: (510) 923-2679 Fax: (510) 923-3344
Status: Designated Designation Date: 22-Mar-89(1), 10-Sep-96(2), 14-Sep-88(3), 24-Nov-98(4), 31-Jul-98 (5) Marketing Approval Date: 09-Jan-98(2), 05-May-92(3)

Generic Name: alemtuzumab Trade Name: Campath

Orphan Indication: Treatment of chronic lymphocytic leukemia.
Sponsor: Millennium and ILEX Partners, LP Contact: Mrs. Jacqueline Cinicola
Address: Cambridge, MA Phone: 6175513618 Fax:
Status: Designated Designation Date: 20-Oct-97 Marketing Approval Date:

Generic Name: Alendronate disodium Trade Name: Fosamax

Orphan Indication: Treatment of the bone manifestations of Gaucher disease
Sponsor: Richard J. Wenstrup, M.D. Contact: Dr. Joseph Fondacaro
Address: Cincinnati, OH Phone: 5136367695 Fax: 5136368453
Status: Designated Designation Date: 13-Feb-01 Marketing Approval Date:

Generic Name: Alglucerase injection Trade Name: Ceredase

Orphan Indication: 1). Replacement therapy in patients with Type II and III Gaucher's disease. 2). For replacement therapy in patients with Gaucher's disease type I.
130
Sponsor: Genzyme Corporation Contact: Ms. Suzanne Sensabaugh
Address: Cambridge, MA Phone: (617) 374-7455 Fax: (617) 374-7470
Status: Designated Designation Date: 21-Jul-95 (1), 11-Mar-85 (2), Marketing Approval Date: 05-Apr-91(2)

Generic Name: Alitretinoin Trade Name: Panretin

Orphan Indication: Topical treatment of cutaneous lesions in patients with AIDS-related Kaposi's sarcoma.
Sponsor: Ligand Pharmaceuticals Inc. Contact: Dr. David Furlano
Address: San Diego, CA Phone: (619) 550-7600 Fax: (619) 550-1827
Status: Designated/Approved Designation Date: 24-Mar-98 Marketing Approval Date: 02-Feb-99

Generic Name: Allogeneic human retinal pigment epithelial cells on gelatin microcarriers Trade Name: Spheramine
Orphan Indication: Treatment of Hoehn and Yahr stage 3 and 4 Parkinson's disease.
Sponsor: Titan Pharmaceuticals, Inc. Contact: Dr. Richard Allen
Address: Somerville, NJ Phone: (908) 429-9880 Fax: (908) 429-9096
Status: Designated Designation Date: 18-Jul-97 Marketing Approval Date:

Generic Name: Allogeneic peripheral blood mononuclear cells sensitized against patient alloantigens by mixed lymphocyte culture Trade Name: CYTOIMPLANT
Orphan Indication: Treatment of pancreatic cancer.
Sponsor: Applied Immunotherapeutics, LLC Contact: Mr. Michael O'Neill
Address: Santa Fe Springs, CA Phone: (310) 926-8600 Fax: (562) 921-9415
Status: Designated Designation Date: 13-Jun-97 Marketing Approval Date:

Generic Name: Allopurinol riboside Trade Name:

Orphan Indication: 1). Treatment of Chagas' disease. 2). Treatment of cutaneous and visceral leishmaniasis.
Sponsor: Burroughs Wellcome Company Contact: Dr. Michael Dalton
Address: Research Triangle Park, NC Phone: (919) 315-4453 Fax:
Status: Designated/Withdrawn Designation Date: 04-Dec-85(1), 04-Dec-85(2), Marketing Approval Date:

Generic Name: Allopurinol sodium Trade Name: Zyloprim

Orphan Indication: Ex-vivo preservation of cadaveric kidneys for transplantation
Sponsor: Burroughs Wellcome Company Contact: Dr. Michael Dalton
Address: Research Triangle Pk, NC Phone: (919) 248-4453 Fax:
Status: Designated/Withdrawn Designation Date: 09-Nov-87 Marketing Approval Date:

Generic Name: Allopurinol sodium Trade Name: Zyloprim for Injection

Orphan Indication: Management of patients with leukemia, lymphoma, and solid tumor malignancies who are receiving cancer therapy which causes elevations of serum and
urinary uric acid levels and who cannot tolerate oral therapy.
Sponsor: Catalytica Pharmaceuticals, Inc Contact: Dr. Greg Little
Address: Greenville, NC Phone: (800) 327-7106 Fax: ( ) -
Status: Designated/Approved Designation Date: 16-Oct-92 Marketing Approval Date: 17-May-96

Generic Name: Alpha-1-antitrypsin (recombinant DNA Origin) Trade Name:

Orphan Indication: As supplementation therapy for alpha-1-antitrypsin deficiency in the ZZ phenotype population.
Sponsor: Chiron Corporation Contact: Ms. Mary O'Hara
Address: Emeryville, CA Phone: (510) 923-2679 Fax:
Status: Designated/Withdrawn Designation Date: 01-Jan-84 Marketing Approval Date:

Generic Name: Alpha-galactosidase A Trade Name: CC-galactosidase

Orphan Indication: Treatment of alpha-galactosidase A deficiency (Fabry's disease).
Sponsor: Orphan Medical, Inc. Contact: Dr. Dayton Reardon
Address: Minnetonka, MN Phone: (612) 513-6969 Fax: (612) 541-9209
Status: Designated Designation Date: 17-Jun-91 Marketing Approval Date:

Generic Name: Alpha-galactosidase A Trade Name: Fabrase

Orphan Indication: Treatment of Fabry's disease.
Sponsor: Desnick, Robert J. M.D. Contact: Dr. Robert Desnick
Address: New York, NY Phone: (212) 241-6946 Fax:
Status: Designated Designation Date: 20-Jul-90 Marketing Approval Date:

Generic Name: Alpha-galactosidase A Trade Name: Replagal

Orphan Indication: Long-term enzyme replacement therapy for the treatment of Fabry disease.
Sponsor: Transkaryotic Therapies Inc. Contact: Dr. Kurt Gunter
Address: Cambridge, MA Phone: (617) 349-0226 Fax: 6175030313
Status: Designated Designation Date: 22-Jun-98 Marketing Approval Date:

Generic Name: Alpha-melanocyte stimulating hormone Trade Name:

Orphan Indication: Prevention and treatment of intrinsic acute renal failure due to ischemia.
Sponsor: National Institute of Diabetes, and Digestive and Kidney Contact: Dr. Ira Levin Diseases
Address: Bethesda, MD Phone: 3014964128 Fax: 3014969943
Status: Designated Designation Date: 19-Aug-97 Marketing Approval Date:

Generic Name: Alpha1-proteinase inhibitor (human) Trade Name: Prolastin

Orphan Indication: For replacement therapy in the alpha-1-proteinase inhibitor congenital deficiency state.
Sponsor: Bayer Corporation Contact: Dr. Brian Miller
Address: New Haven, CT Phone: (800) 288-8371 Fax:
Status: Designated/Approved Designation Date: 07-Dec-84 Marketing Approval Date: 02-Dec-87

Generic Name: Alpha1-proteinase inhibitor (human) Trade Name:

Orphan Indication: For slowing the progression of emphysema in alpha1-antitrypsin deficient patients.
Sponsor: Aventis Behring L.L.C. Contact: Ms. Denise Rieker
Address: King of Prussia, PA Phone: (610) 878-4460 Fax: (610) 878-4009
Status: Designated Designation Date: 24-Nov-99 Marketing Approval Date:
131
Generic Name: Alprostadil Trade Name:
Orphan Indication: Treatment of severe peripheral arterial occlusive disease (critical limb ischemia) in patients where other procedures, grafts or angioplasty, are not
indicated.
Sponsor: Schwarz Pharma, Inc. Contact: Ms. Donna Multhauf
Address: Milwaukee, WI Phone: (414) 354-4300 Fax: (414) 354-4309
Status: Designated/Withdrawn Designation Date: 20-Oct-93 Marketing Approval Date:

Generic Name: Alronidase Trade Name: Aldurazyme

Orphan Indication: Treatment of patients with mucopolysaccharidosis-I.
Sponsor: BioMarin Pharmaceutical, Inc. Contact: Ms. Lily Medina
Address: Novato, CA Phone: (415) 884-6722 Fax: (415) 382-7889
Status: Designated Designation Date: 24-Sep-97 Marketing Approval Date:

Generic Name: Altretamine Trade Name: Hexalen

Orphan Indication: Treatment of advanced adenocarcinoma of the ovary.
Sponsor: Medimmune Oncology, Inc. Contact: Ms. Eve Damiano
Address: West Conshohocken, PA Phone: (610) 832-4580 Fax: (610) 832-4571
Status: Designated/Approved Designation Date: 09-Feb-84 Marketing Approval Date: 26-Dec-90

Generic Name: Amifostine Trade Name: Ethyol

Orphan Indication: 1). For use as a chemoprotective agent for cisplatin in the treatment of advanced ovarian carcinoma. 2). For the reduction of the incidence and severity of
toxicities associated with cisplatin administration. 3). Treatment of myelodysplastic syndromes. 4). Reduction of the incidence of moderate to severe xerostomia in
patients undergoing post-operative radiation treatment for head and neck cancer. 5). For use as a chemoprotective agent for cyclophosphamide in the treatment of
advanced ovarian carcinoma. 6). For use as a chemoprotective agent for cisplatin in the treatment of metastatic melanoma.
Sponsor: Medimmune Oncology, Inc. Contact: Ms. Eve Damiano
Address: West Conshohocken, PA Phone: (610) 832-4580 Fax: 6108324671
Status: Designated/Approved Designation Date: 30-May-90(1), 24-Nov-98(2), 04-Oct-99(3), 12-May-98(4), 30-May-90(5), 30-May-90(6) Marketing Approval Date:
08-Dec-95(1), 24-Jun-99(4)

Generic Name: Amiloride HCl solution for inhalation Trade Name:

Orphan Indication: Treatment of cystic fibrosis.
Sponsor: Glaxo Wellcome Research and Development Contact: Dr. John Morgan
Address: Research Triangle Park, NC Phone: (919) 483-6894 Fax: (919) 315-0033
Status: Designated/Withdrawn Designation Date: 18-Jul-90 Marketing Approval Date:

Generic Name: Aminocaproic acid Trade Name: Caprogel

Orphan Indication: For the topical treatment of traumatic hyphema of the eye.
Sponsor: Eastern Virginia Medical School Contact: Dr. Earl Crouch
Address: Norfolk, VA Phone: 7574610050 Fax: 7574614538
Status: Designated Designation Date: 06-Jan-95 Marketing Approval Date:

Generic Name: Aminosalicylate sodium Trade Name:

Orphan Indication: Treatment of Crohn's disease.
Sponsor: Syncom Pharmaceuticals, Inc. Contact: Dr. Fred McIlreath
Address: Florham Park, NJ Phone: (201) 822-9222 Fax: (201) 822-1444
Status: Designated/Withdrawn Designation Date: 06-Apr-93 Marketing Approval Date:

Generic Name: Aminosalicylic acid Trade Name: Paser Granules

Orphan Indication: Treatment of tuberculosis infections.
Sponsor: Jacobus Pharmaceutical Company Contact: Dr. Neil Lewis
Address: Princeton, NJ Phone: (609) 921-7447 Fax:
Status: Designated/Approved Designation Date: 19-Feb-92 Marketing Approval Date: 30-Jun-94

Generic Name: Aminosidine Trade Name: Paromomycin

Orphan Indication: Treatment of visceral leishmaniasis (kala-azar).
Sponsor: Kanyok, Thomas P. Pharm.D. Contact: Dr. Thomas Kanyok
Address: Chicago, IL Phone: (312) 996-6300 Fax:
Status: Designated Designation Date: 09-Sep-94 Marketing Approval Date:

Generic Name: Aminosidine Trade Name: Gabbromicina

Orphan Indication: 1). Treatment of tuberculosis. 2). Treatment of Mycobacterium avium complex.
Sponsor: Kanyok, Thomas P. Pharm.D. Contact: Dr. Thomas Kanyok
Address: Chicago, IL Phone: (312) 996-6300 Fax:
Status: Designated Designation Date: 14-May-93(1), 15-Nov-93(2) Marketing Approval Date:

Generic Name: Amiodarone Trade Name: Amio-Aqueous

Orphan Indication: Treatment of incessant ventricular tachycardia.
Sponsor: Wyeth-Ayerst Research Contact: Dr. Caroline Henesey
Address: Philadelphia, PA Phone: 6109023279 Fax: (610) 964-3898
Status: Designated Designation Date: 17-Aug-93 Marketing Approval Date:

Generic Name: Amiodarone HCl Trade Name: Cordarone

Orphan Indication: For the acute treatment and prophylaxis of life-threatening ventricular tachycardia or ventricular fibrillation.
Sponsor: Wyeth-Ayerst Laboratories Contact: Dr. Eleanor DeLorme
Address: Philadelphia, PA Phone: (215) 341-2239 Fax:
Status: Designated/Approved Designation Date: 16-Mar-94 Marketing Approval Date: 03-Aug-95

Generic Name: Ammonium tetrathiomolybdate Trade Name:

Orphan Indication: Treatment of Wilson's disease.
Sponsor: Brewer, George J. M.D. Contact: Dr. George Brewer
Address: Ann Arbor, MI Phone: (734) 764-5499 Fax:
132
Status: Designated Designation Date: 31-Jan-94 Marketing Approval Date:

Generic Name: Amphotericin B lipid complex Trade Name: Abelcet

Orphan Indication: 1). Treatment of invasive zygomycosis. 2). Treatment of invasive candidiasis. 3). Treatment of invasive fungal infections. 4). Treatment of invasive
sporotrichosis. 5). Treatment of invasive coccidioidomycosis. 6). Treatment of invasive protothecosis.
Sponsor: The Liposome Company, Inc. Contact: Dr. James Boyle
Address: Princeton, NJ Phone: (609) 452-7060 Fax: (609) 452-1890
Status: Designated/Withdrawn Designation Date: 06-May-96(1), 27-Jun-96(2), 03-Dec-96 (3), 23-Sep-96(4), 06-May-96 (5), 21-Aug-96 (6) Marketing Approval Date:
18-Oct-96(3)

Generic Name: Amsacrine Trade Name: Amsidyl

Orphan Indication: Treatment of acute adult leukemia.
Sponsor: Warner-Lambert Company Contact: Ms. Janeth Turner
Address: Ann Arbor, MI Phone: (313) 996-7000 Fax:
Status: Designated/Withdrawn Designation Date: 07-Dec-84 Marketing Approval Date:

Generic Name: Anagrelide Trade Name: Agrylin

Orphan Indication: 1). Treatment of essential thrombocythemia. 2). Treatment of thrombocytosis in chronic myelogenous leukemia. 3). Treatment of polycythemia vera.
Sponsor: Roberts Pharmaceutical Corp. Contact: Mr. Drew Karlan
Address: Eatontown, NJ Phone: (732) 389-1182 Fax: ( ) -
Status: Designated/Approved Designation Date: 27-Jan-88(1), 14-Jul-86 (2), 11-Jun-85(3), Marketing Approval Date: 14-Mar-97(1),

Generic Name: Ananain, comosain Trade Name: Vianain

Orphan Indication: For the enzymatic debridement of severe burns.
Sponsor: Genzyme Corporation Contact: Ms. Patricia Thomas
Address: Cambridge, MA Phone: 6177618239 Fax: (617) 252-7600
Status: Designated Designation Date: 21-Jan-92 Marketing Approval Date:

Generic Name: Anaritide acetate Trade Name: Auriculin

Orphan Indication: 1). Treatment of patients with acute renal failure. 2). Improvement of early renal allograft function following renal transplantation.
Sponsor: Scios, Inc. Contact: Ms. Karen Harder
Address: Mountain View, CA Phone: (415) 940-6645 Fax: (415) 966-2438
Status: Designated/Withdrawn Designation Date: 27-Aug-92 (1), 10-Apr-92(2), Marketing Approval Date:

Generic Name: Ancestim Trade Name: Stemgen

Orphan Indication: For use in combination with filgrastim to decrease the number of phereses required to collect peripheral blood progenitor cells capable of providing rapid
multi-lineage hematopoietic reconstitution following myelosuppressive or myeloablative therapy.
Sponsor: Amgen, Inc. Contact: Mr. Neal Birkett
Address: Thousand Oaks, CA Phone: (805) 447-3416 Fax: 8054801330
Status: Designated Designation Date: 05-Jul-95 Marketing Approval Date:

Generic Name: Ancrod Trade Name: Viprinex

Orphan Indication: To establish and maintain anticoagulation in heparin-intolerant patients undergoing cardiopulmonary bypass.
Sponsor: Knoll Pharmaceutical Company Contact: Dr. Robert Ashworth
Address: Mt. Olive, NJ Phone: (973) 426-6012 Fax:
Status: Designated Designation Date: 12-Nov-97 Marketing Approval Date:

Generic Name: Angiotensin 1-7 Trade Name:

Orphan Indication: Treatment of neutropenia associated with autologous bone marrow transplantation.
Sponsor: Maret Pharmaceuticals Contact: Dr. Jamie Oliver
Address: Newport Beach, CA Phone: (949) 225-0005 Fax: (949) 225-0006
Status: Designated Designation Date: 16-Feb-00 Marketing Approval Date:

Generic Name: Anti pan T lymphocyte monoclonal antibody Trade Name: Anti-t Lymphocyte Immunotoxin Xmmly-h65-rta
Orphan Indication: 1). For ex-vivo treatment to eliminate mature T cells from potential bone marrow grafts. 2). For in-vivo treatment of bone marrow recipients to prevent graft
rejection and graft versus host disease.
Sponsor: Xoma Corporation Contact: Joan Roelands
Address: Berkeley, CA Phone: (510) 644-1170 Fax:
Status: Designated/Withdrawn Designation Date: 29-Jan-86(1), 29-Jan-86(2), Marketing Approval Date:

Generic Name: Anti-CD45 monoclonal antibodies Trade Name:

Orphan Indication: Prevention of acute graft rejection of human organ transplants.
Sponsor: Baxter Healthcare Corporation Contact: Mr. Robert Wilkinson
Address: Mcgaw Park, IL Phone: (708) 473-6030 Fax:
Status: Designated/Withdrawn Designation Date: 10-Sep-90 Marketing Approval Date:

Generic Name: Anti-cytomegalovirus monoclonal antibodies Trade Name:

Orphan Indication: 1). Treatment of human cytomegalovirus infection in patients diagnosed with AIDS. 2). Treatment of human cytomegalovirus infection in bone marrow and
organ transplant patients. 3). Prevention of human cytomegalovirus infection in patients diagnosed with AIDS. 4). Prevention of human cytomegalovirus infection in bone
marrow and organ transplant patients.
Sponsor: Biomedical Research Institute Contact: Dr. Richard Gehrz
Address: St. Paul, MN Phone: (612) 220-6900 Fax:
Status: Designated/Withdrawn Designation Date: 03-May-90 (1), 02-May-90(2), 03-May-90(3), 02-May-90 (4), Marketing Approval Date:

Generic Name: Anti-tap-72 immunotoxin Trade Name: Xomazyme-791

Orphan Indication: Treatment of metastatic colorectal adenocarcinoma.
Sponsor: Xoma Corporation Contact: Joan Roelands
Address: Berkeley, CA Phone: (510) 644-1170 Fax:
Status: Designated/Withdrawn Designation Date: 06-Mar-87 Marketing Approval Date:

Generic Name: Anti-thymocyte Globulin (Rabbitt) Trade Name: Thymoglobulin

Orphan Indication: Treatment of myelodysplastic syndrome (MDS)
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Sponsor: SangStat Medical Corporation Contact: Dr. Elizabeth Squiers
Address: Freemont, CA Phone: 5107894300 Fax: 5107894400
Status: Designated Designation Date: 06-Sep-00 Marketing Approval Date:

Generic Name: Anti-thymocyte serum Trade Name: Nashville Rabbit Anti-thymocyte Serum
Orphan Indication: Treatment of allograft rejection, including solid organ (kidney, liver, heart, lung, and pancreas) and bone marrow transplantation.
Sponsor: Applied Medical Research Contact: Dr. Harold Miller
Address: Nashville, TN Phone: (615) 327-0676 Fax: (615) 327-3627
Status: Designated Designation Date: 02-Jun-93 Marketing Approval Date:

Generic Name: Antiepilepsirine Trade Name:

Orphan Indication: Treatment of drug resistant generalized tonic-clonic epilepsy in children and adults.
Sponsor: Children's Hospital Contact: Dr. Philip Walson
Address: Columbus, OH Phone: (614) 722-6478 Fax: (614) 722-4565
Status: Designated Designation Date: 23-Mar-89 Marketing Approval Date:

Generic Name: Antihemophilic factor (human) Trade Name: Alphanate

Orphan Indication: Treatment of von Willebrand's disease.
Sponsor: Alpha Therapeutic Corporation Contact: Ms. M. Sue Preston
Address: Los Angeles, CA Phone: (323) 225-7580 Fax:
Status: Designated Designation Date: 05-Jan-96 Marketing Approval Date:

Generic Name: Antihemophilic factor (recombinant) Trade Name: ReFacto

Orphan Indication: For the control and prevention of hemorrhagic episodes and for surgical prophylaxis in patients with hemophilia A (congenital factor VIII deficiency or
classic hemophilia).
Sponsor: Genetics Institute, Inc. Contact: Ms. Maryann Krane
Address: Cambridge, MA Phone: (617) 665-8737 Fax: (617) 498-8838
Status: Designated/Approved Designation Date: 08-Feb-96 Marketing Approval Date: 06-Mar-00

Generic Name: Antihemophilic factor (recombinant) Trade Name: Kogenate

Orphan Indication: Prophylaxis and treatment of bleeding in individuals with hemophilia A or for prophylaxis when surgery is required in individuals with hemophilia A.
Sponsor: Bayer Corporation Contact: Ms. Carol Moore
Address: Elkhart, IN Phone: (510) 705-5224 Fax: (510) 705-5553
Status: Designated/Approved Designation Date: 25-Sep-89 Marketing Approval Date: 25-Feb-93

Generic Name: Antihemophilic factor/von Willebrand factor complex (human), dried, pasteurized Trade Name: Humate-P
Orphan Indication: Treatment and prevention of bleeding in hemophilia A (classical hemophilia) in adult patients; and treatment of spontaneous and trauma-induced bleeding
episodes in severe von Willebrand disease, and in mild and moderate von Willebrand disease where use of desmopressin is known or suspected to be inadequate in adult and
pediatric patients.
Sponsor: Aventis Behring L.L.C. Contact: Ms. Carol Marchione
Address: King Of Prussia, PA Phone: (610) 878-4026 Fax: (610) 878-4009
Status: Designated/Approved Designation Date: 16-Oct-92 Marketing Approval Date: 01-Apr-99

Generic Name: Antimelanoma Antibody XMMME-001-DTPA 111 Indium Trade Name: Antimelanoma Antibody XMMME-001-DTPA 111 Indium
Orphan Indication: Diagnostic use in imaging systemic and nodal melanoma metastasis.
Sponsor: Xoma Corporation Contact: Joan Roelands
Address: Berkeley, CA Phone: (510) 644-1170 Fax:
Status: Designated/Withdrawn Designation Date: 14-Nov-84 Marketing Approval Date:

Generic Name: Antimelanoma Antibody XMMME-001-RTA Trade Name: Antimelanoma Antibody XMMME-001-RTA
Orphan Indication: Treatment of stage III melanoma not amenable to surgical resection.
Sponsor: Xoma Corporation Contact: Joan Roelands
Address: Berkeley, CA Phone: (510) 644-1170 Fax:
Status: Designated/Withdrawn Designation Date: 14-Nov-84 Marketing Approval Date:

Generic Name: Antipyrine Test Trade Name:

Orphan Indication: For use as an index of hepatic drug-metabolizing capacity.
Sponsor: Upsher-Smith Laboratories, Inc Contact: Dr. Harvey Arbit
Address: Minneapolis, MN Phone: (612) 473-4412 Fax:
Status: Designated/Withdrawn Designation Date: 21-Feb-85 Marketing Approval Date:

Generic Name: Antithrombin III (human) Trade Name: Thrombate III

Orphan Indication: For replacement therapy in congenital deficiency of AT-III for prevention and treatment of thrombosis and pulmonary emboli.
Sponsor: Bayer Corporation Contact: Ms.
Address: New Haven, CT Phone: (203) 937-2000 Fax:
Status: Designated/Approved Designation Date: 26-Nov-84 Marketing Approval Date: 30-Dec-91

Generic Name: Antithrombin III (human) Trade Name: ATnativ

Orphan Indication: For the treatment of patients with hereditary antithrombin III deficiency in connection with surgical or obstetrical procedures or when they suffer from
thromboembolism.
Sponsor: Pharmacia & Upjohn AB Contact: Dr. Ronald Leonardi
Address: Sweden, SE Phone: (858) 586-0751 Fax: ( ) -
Status: Designated/Approved Designation Date: 08-Feb-85 Marketing Approval Date: 31-Dec-89

Generic Name: Antithrombin III (human) concentrate IV Trade Name: Kybernin P

Orphan Indication: For prophylaxis and treatment of thromboembolic episodes in patients with genetic AT-III deficiency.
Sponsor: Aventis Behring L.L.C. Contact: Mr. Victor Paulus
Address: King of Prussia, PA Phone: (610) 878-4052 Fax: (610) 878-4009
Status: Designated Designation Date: 02-Jul-85 Marketing Approval Date:

Generic Name: Antithrombin III human Trade Name: Antithrombin III human
Orphan Indication: Preventing or arresting episodes of thrombosis in patients with congenital AT-III deficiency and/or to prevent the occurrence of thrombosis in patients with
134
AT-III deficiency who have undergone trauma or who are about to undergo surgery or parturition.
Sponsor: American National Red Cross Contact: Dr. Doris Menache-Aronson
Address: Bethesda, MD Phone: (301) 530-6040 Fax:
Status: Designated Designation Date: 02-Jan-86 Marketing Approval Date:

Generic Name: Antivenin, crotalidae polyvalent immune Fab (ovine) Trade Name: CroFab
Orphan Indication: Treatment of envenomations inflicted by North American crotalid snakes.
Sponsor: Protherics, Inc. Contact: Ms. Carol Clark-Evans
Address: Nashville, TN Phone: 6153271027 Fax: 6153201212
Status: Designated/Approved Designation Date: 12-Jan-94 Marketing Approval Date: 02-Oct-00

Generic Name: Antivenom (crotalidae) purified (avian) Trade Name:

Orphan Indication: Treatment of envenomation by poisonous snakes belonging to the Crotalidae family.
Sponsor: Ophidian Pharmaceuticals, Inc. Contact: Dr. Douglas Stafford
Address: Madison, WI Phone: (608) 271-0878 Fax: (608) 277-2395
Status: Designated Designation Date: 12-Feb-91 Marketing Approval Date:

Generic Name: AP1903 Trade Name:

Orphan Indication: Treatment of acute graft-versus-host disease in patients undergoing bone marrow transplantation.
Sponsor: Ariad Gene Therapeutics, Inc. Contact: Dr. John Iuliucci
Address: Cambridge, MA Phone: (617) 494-0400 Fax: (617) 494-1828
Status: Designated Designation Date: 24-Nov-99 Marketing Approval Date:

Generic Name: APL 400-020 V-Beta DNA vaccine Trade Name:

Orphan Indication: Treatment of cutaneous T cell lymphoma.
Sponsor: Wyeth-Lederle Vaccines and Pediatrics Contact: Mr. Jack Love
Address: West Henrietta, NY Phone: (716) 272-9728 Fax: (716) 273-7515
Status: Designated Designation Date: 08-Mar-95 Marketing Approval Date:

Generic Name: Apomorphine Trade Name:

Orphan Indication: Treatment of the on-off fluctuations associated with late-stage Parkinson's disease.
Sponsor: Pentech Pharmaceuticals, Inc. Contact: Ms. Julie Phillips
Address: Buffalo Grove, IL Phone: (847) 215-0971 Fax: (847) 215-1370
Status: Designated Designation Date: 17-Jul-95 Marketing Approval Date:

Generic Name: Apomorphine Trade Name:

Orphan Indication: For use as rescue treatment for early morning motor dysfunction in late-stage Parkinson's disease.
Sponsor: Scherer DDS Contact: Mr. B. Randall Vestal
Address: Wiltshire, UK Phone: (703) 406-0906 Fax: (703) 406-9513
Status: Designated/Withdrawn Designation Date: 20-Oct-97 Marketing Approval Date:

Generic Name: Apomorphine HCl Trade Name:

Orphan Indication: Treatment of the on-off fluctuations associated with late-stage Parkinson's disease.
Sponsor: Mylan Pharmaceuticals, Inc. Contact: Mr. Frank Sisto
Address: Morgantown, WV Phone: (304) 599-2595 Fax: (304) 285-6407
Status: Designated Designation Date: 22-Apr-93 Marketing Approval Date:

Generic Name: Aprotinin Trade Name: Trasylol

Orphan Indication: For prophylactic use to reduce perioperative blood loss and the homologous blood transfusion requirement in patients undergoing cardiopulmonary bypass
surgery in the course of repeat coronary artery bypass graft surgery, and in selected cases of primary coronary artery bypass graft surgery where the risk of bleeding is
especially high (impaired hemostasis) or where transfusion is unavailable or unacceptable.
Sponsor: Bayer Corporation Contact: Dr. Christine Miller
Address: West Haven, CT Phone: (203) 931-5145 Fax:
Status: Designated/Approved Designation Date: 17-Nov-93 Marketing Approval Date: 29-Dec-93

Generic Name: Arcitumomab Trade Name: 99m Tc-labeled CEA-Scan

Orphan Indication: Diagnosis and localization of primary, residual, recurrent and metastatic medullary thyroid carcinoma.
Sponsor: Immunomedics, Inc. Contact: Dr. Joseph Presslitz
Address: Morris Plains, NJ Phone: (973) 605-8200 Fax: (973) 605-8282
Status: Designated Designation Date: 10-May-96 Marketing Approval Date:

Generic Name: Arginine butyrate Trade Name:

Orphan Indication: Treatment of beta-hemoglobinopathies and beta-thalassemia.
Sponsor: Perrine, Susan P., M.D. Contact: Dr. Susan Perrine
Address: Boston, MA Phone: (617) 638-4173 Fax:
Status: Designated Designation Date: 07-Apr-92 Marketing Approval Date:

Generic Name: Arginine butyrate Trade Name:

Orphan Indication: Treatment of sickle cell disease and beta thalassemia.
Sponsor: Vertex Pharmaceuticals Inc. Contact: Dr. William Kelley
Address: Cambridge, MA Phone: (617) 577-6000 Fax: (617) 577-6680
Status: Designated/Withdrawn Designation Date: 25-May-94 Marketing Approval Date:

Generic Name: Arsenic trioxide Trade Name: Trisenox

Orphan Indication: 1). Treatment of acute promyelocytic leukemia. 2). Treatment of multiple myeloma. 3). Treatment of myelodysplastic syndrome.
Sponsor: Cell Therapeutics, Inc. Contact: Ms. Jennie Allewell
Address: Seattle, WA Phone: 2062708424 Fax: 2062708463
Status: Designated/Approved Designation Date: 03-Mar-98(1), 28-Apr-00(2), 17-Jul-00(3), Marketing Approval Date: 25-Sep-00(1), 25-Sep-00 (3)

Generic Name: Artesunate Trade Name:

Orphan Indication: Treatment of malaria.
Sponsor: World Health Organisation Contact: Dr. Nelle Temple Brown
135
Address: Switzerland, CH Phone: (202) 331-9081 Fax: (202) 331-9097
Status: Designated Designation Date: 19-Jul-99 Marketing Approval Date:

Generic Name: As-101 Trade Name:

Orphan Indication: Treatment of acquired immunodeficiency syndrome.
Sponsor: NPDC-AS101, Inc. Contact: Hilary Helmrich
Address: New Brunswick, NJ Phone: (908) 249-3232 Fax:
Status: Designated/Withdrawn Designation Date: 09-Nov-87 Marketing Approval Date:

Generic Name: Atovaquone Trade Name: Mepron

Orphan Indication: 1). Primary prophylaxis of HIV-infected persons at high risk for developing Toxoplasma gondii encephalitis. 2). Treatment and suppression of Toxoplasma
gondii encephalitis. 3). Treatment of AIDS associated Pneumocystis Carinii Pneumonia. 4). Prevention of Pneumocystis carinii pneumonia (PCP) in high-risk, HIV-infected
patients defined by a history of one or more episodes of PCP and/or a peripheral CD4+ (T4 helper/inducer) lymphocyte count less than or equal to 200/mm3.
Sponsor: Glaxo Wellcome Inc. Contact: Mr. Thomas Shumaker
Address: Research Triangle Park, NC Phone: (919) 483-9324 Fax: (919) 483-5756
Status: Designated Designation Date: 16-Mar-93(1), 16-Mar-93(2), 10-Sep-90(3), 14-Aug-91 (4), Marketing Approval Date: 25-Nov-92(3), 05-Jan-99(4)

Generic Name: Autologous DNP-conjugated tumor vaccine Trade Name: M-Vax

Orphan Indication: For adjuvant therapy in melanoma patients with surgically resectable lymph node metastasis (Stage III and limited Stage IV disease).
Sponsor: Avax Technologies, Inc. Contact: Mr. Gary Knappenberger
Address: Kansas City, MO Phone: (816) 960-1333 Fax: (816) 960-1334
Status: Designated Designation Date: 23-Feb-99 Marketing Approval Date:

Generic Name: Autolymphocyte therapy Trade Name:

Orphan Indication: Treatment of renal cell carcinoma.
Sponsor: Cytogen Corporation Contact: Ms. Ursula Treves
Address: Princeton, NJ Phone: (609) 987-8200 Fax: (609) 452-2975
Status: Designated Designation Date: 12-Jul-94 Marketing Approval Date:

Generic Name: Azathioprine Trade Name: Imuran

Orphan Indication: Treatment of oral manifestations of graft-versus-host disease.
Sponsor: Oral Solutions, Inc. Contact: Mr. Michael Ferrari
Address: New York, NY Phone: (212) 554-4293 Fax: (212) 554-4338
Status: Designated Designation Date: 14-Sep-99 Marketing Approval Date:

Generic Name: B Lymphocyte Stimulator Trade Name: BLyS

Orphan Indication: Treatment of common variable immunodeficiency (CVID)
Sponsor: Human Genome Sciences, Inc. Contact: Dr. Sally Bolmer
Address: Rockville, MD Phone: 3016105806 Fax: 3013090311
Status: Designated Designation Date: 21-Feb-01 Marketing Approval Date:

Generic Name: Bacitracin Trade Name: Altracin

Orphan Indication: Treatment of antibiotic-associated pseudomembranous enterocolitis caused by toxins A and B elaborated by Clostridium difficile.
Sponsor: A. L. Laboratories, Inc. Contact: Dr. Bernard Brown
Address: Fort Lee, NJ Phone: (201) 947-7774 Fax:
Status: Designated Designation Date: 13-Mar-84 Marketing Approval Date:

Generic Name: Baclofen Trade Name: Lioresal Intrathecal

Orphan Indication: Treatment of spasticity associated with cerebral palsy.
Sponsor: Medtronic, Inc. Contact: Ms. Diana Salditt
Address: Minneapolis, MN Phone: (612) 572-5647 Fax:
Status: Designated Designation Date: 26-Sep-94 Marketing Approval Date:

Generic Name: Baclofen Trade Name:

Orphan Indication: Treatment of intractable spasticity due to multiple sclerosis or spinal cord injury.
Sponsor: Infusaid, Inc. Contact: Mr. Vincent Bucci
Address: Norwood, MA Phone: (617) 769-8330 Fax:
Status: Designated Designation Date: 16-Dec-91 Marketing Approval Date:

Generic Name: Baclofen Trade Name: Lioresal Intrathecal

Orphan Indication: Treatment of intractable spasticity caused by spinal cord injury, multiple sclerosis, and other spinal diseases (including spinal ischemia, spinal tumor,
transverse myelitis, cervical spondylosis, and degenerative myelopathy).
Sponsor: Medtronic, Inc. Contact: Mr. Darryle Peterson
Address: Minneapolis, MN Phone: (612) 572-5000 Fax:
Status: Designated/Approved Designation Date: 10-Nov-87 Marketing Approval Date: 25-Jun-92

Generic Name: Basiliximab Trade Name: Simulect

Orphan Indication: Prophylaxis of solid organ rejection.
Sponsor: Novartis Pharmaceuticals Corporation Contact: Dr. Inmaculada Esparza
Address: East Hanover, NJ Phone: (973) 781-3154 Fax: (973) 781-8364
Status: Designated/Approved Designation Date: 12-Dec-97 Marketing Approval Date: 12-May-98

Generic Name: Beclomethasone dipropionate Trade Name:

Orphan Indication: For oral administration in the treatment of intestinal graft-versus-host disease.
Sponsor: George B. McDonald, M.D. Contact: Dr. George McDonald
Address: Seattle, WA Phone: (206) 667-6932 Fax: (206) 667-6129
Status: Designated Designation Date: 27-Mar-98 Marketing Approval Date:

Generic Name: Benzoate and phenylacetate Trade Name: Ucephan

Orphan Indication: For adjunctive therapy in the prevention and treatment of hyperammonemia in patients with urea cycle enzymopathy due to carbamylphosphate
synthetase, ornithine, transcarbamylase, or argininosuccinate synthetase deficiency.
Sponsor: B. Braun Medical Inc. Contact: Mr. John D'Angelo
136
Address: Irvine, CA Phone: (949) 660-2517 Fax:
Status: Designated/Approved Designation Date: 21-Jan-86 Marketing Approval Date: 23-Dec-87

Generic Name: benzoate / phenylacetate Trade Name: Ammonul

Orphan Indication: For the treatment of acute hyperammonemia and associated encephalopathy in patients with deficiencies in enzymes of the urea cycle.
Sponsor: Medicis Pharmaceutical Corp. Contact: Ms. Lynn Hansen
Address: Scottsdale, AZ Phone: 6028083813 Fax: 6028080822
Status: Designated Designation Date: 22-Nov-93 Marketing Approval Date:

Generic Name: Benzydamine hydrochloride Trade Name: Tantum

Orphan Indication: Prophylactic treatment of oral mucositis resulting from radiation therapy for head and neck cancer.
Sponsor: Angelini Pharmaceuticals, Inc. Contact: Dr. Dario Paggiarino
Address: River Edge, NJ Phone: (201) 489-4100 Fax: (201) 489-9535
Status: Designated Designation Date: 18-May-98 Marketing Approval Date:

Generic Name: Benzylpenicillin, benzylpenicilloic, benzylpenilloic acid Trade Name: Pre-Pen/MDM

Orphan Indication: Assessing the risk of administrating penicillin when it is the preferred drug of choice in adult patients who have previously received penicillin and have a
history of clinical sensitivity.
Sponsor: Hollister-Stier Laboratories LLC Contact: Mr. David Mirabell
Address: Spokane, WA Phone: (509) 482-1721 Fax: (509) 484-4320
Status: Designated Designation Date: 29-Sep-87 Marketing Approval Date:

Generic Name: Beractant Trade Name: Survanta intratracheal suspension

Orphan Indication: 1). Prevention of neonatal respiratory distress syndrome. 2). Treatment of neonatal respiratory distress syndrome. 3). Treatment of full-term newborn
infants with respiratory failure caused by meconium aspiration syndrome, persistent pulmonary hypertension of the newborn, or pneumonia and sepsis.
Sponsor: Ross Laboratories Contact: Ms. Patricia Welch
Address: Columbus, OH Phone: (614) 624-7283 Fax:
Status: Designated/Approved Designation Date: 05-Feb-86 (1), 05-Feb-86 (2), 20-Dec-93(3) Marketing Approval Date: 01-Jul-91 (1), 01-Jul-91(2)

Generic Name: Beraprost Trade Name:

Orphan Indication: Treatment of pulmonary arterial hypertension associated with any New York Heart Association classification (Class I, II, III, or IV).
Sponsor: United Therapeutics Corporation Contact: Dr. Roger Jeffs
Address: Research Triangle Park, NC Phone: (919) 485-8350 Fax: (919) 485-8352
Status: Designated Designation Date: 29-Apr-99 Marketing Approval Date:

Generic Name: Beta alethine Trade Name: Betathine

Orphan Indication: 1). Treatment of metastatic melanoma. 2). Treatment of multiple myeloma.
Sponsor: Dovetail Technologies, Inc. Contact: Dr. Floyd Taub
Address: College Park, MD Phone: (301) 405-0608 Fax: (301) 405-9187
Status: Designated Designation Date: 24-Mar-97 (1), 24-Mar-97(2), Marketing Approval Date:

Generic Name: Betaine Trade Name: Cystadane

Orphan Indication: Treatment of homocystinuria.
Sponsor: Orphan Medical, Inc. Contact: Dr. Dayton Reardan
Address: Minnetonka, MN Phone: (612) 513-6900 Fax: (612) 541-9209
Status: Designated/Approved Designation Date: 16-May-94 Marketing Approval Date: 25-Oct-96

Generic Name: Bethanidine sulfate Trade Name:

Orphan Indication: 1). Treatment of primary ventricular fibrillation. 2). Prevention of recurrence of primary ventricular fibrillation.
Sponsor: Medco Research, Inc. Contact: Dr. Sam Teichman
Address: Los Angeles, CA Phone: (213) 966-4155 Fax:
Status: Designated/Withdrawn Designation Date: 20-Sep-88(1), 24-Nov-89(2) Marketing Approval Date:

Generic Name: Bexarotene Trade Name: Targretin

Orphan Indication: Treatment of cutaneous manifestations of cutaneous T-cell lymphoma in patients who are refractory to at least one prior systemic therapy.
Sponsor: Ligand Pharmaceuticals, Inc. Contact: Dr. Howard Holden
Address: San Diego, CA Phone: (858) 550-7600 Fax: (858) 550-1827
Status: Designated/Approved Designation Date: 18-Jun-99 Marketing Approval Date: 29-Dec-99

Generic Name: Bindarit Trade Name:

Orphan Indication: Treatment of lupus nephritis.
Sponsor: Angelini Pharmaceuticals, Inc. Contact: Dr. Dario Paggiarino
Address: River Edge, NJ Phone: (201) 489-4100 Fax: (201) 818-3388
Status: Designated Designation Date: 03-Feb-98 Marketing Approval Date:

Generic Name: Bis(4-fluorophenyl)phenylacetamide Trade Name:

Orphan Indication: Treatment of sickle cell disease.
Sponsor: ICAgen Inc. Contact: Dr. Greg Rigdon
Address: Durham, NC Phone: (919) 941-5206 Fax:
Status: Designated Designation Date: 02-Mar-00 Marketing Approval Date:

Generic Name: Bispecific antibody 520c9x22 Trade Name:

Orphan Indication: For in vivo serotherapy of patients with ovarian cancer.
Sponsor: Medarex, Inc. Contact: Dr. Randall Curnow
Address: Annandale, NJ Phone: (908) 713-6001 Fax: (908) 713-6002
Status: Designated Designation Date: 05-Oct-93 Marketing Approval Date:

Generic Name: Bleomycin Trade Name: Blenoxane

Orphan Indication: Treatment of pancreatic cancer.
Sponsor: Genetronics, Inc. Contact: Mr. Albert Snyder
Address: San Diego, CA Phone: (619) 597-6006 Fax:
Status: Designated Designation Date: 09-Feb-99 Marketing Approval Date:
137
Generic Name: Bleomycin sulfate Trade Name: Blenoxane
Orphan Indication: Treatment of malignant pleural effusion.
Sponsor: Bristol-Myers Squibb Pharmaceutical Research Contact: Dr. Joseph Sonk Institute
Address: Princeton, NJ Phone: (609) 252-5710 Fax:
Status: Designated/Approved Designation Date: 17-Sep-93 Marketing Approval Date: 20-Feb-96

Generic Name: BMY-45622 Trade Name:

Orphan Indication: Treatment of ovarian cancer.
Sponsor: Bristol-Myers Squibb Contact: Cheryl Anderson
Address: Wallingford, CT Phone: (203) 284-6083 Fax:
Status: Designated/Withdrawn Designation Date: 15-Oct-90 Marketing Approval Date:

Generic Name: Bosentan Trade Name:

Orphan Indication: Treatment of pulmonary arterial hypertension.
Sponsor: Actelion Life Sciences Ltd. Contact: Ms. Jean Busch
Address: San Mateo, CA Phone: (978) 887-0972 Fax: 9788877314
Status: Designated Designation Date: 06-Oct-00 Marketing Approval Date:

Generic Name: Botulinum toxin type A Trade Name: Botox

Orphan Indication: 1). Treatment of strabismus associated with dystonia in adults (patients 12 years of age and above). 2). Treatment of blepharospasm associated with
dystonia in adults (patients 12 years of age and above). 3). Treatment of dynamic muscle contracture in pediatric cerebral palsy patients. 4). Treatment of cervical
dystonia.
Sponsor: Allergan, Inc. Contact: Mr. Peter Kresel
Address: Irvine, CA Phone: (714) 752-4500 Fax:
Status: Designated/Approved Designation Date: 22-Mar-84(1), 22-Mar-84(2), 06-Dec-91(3), 20-Aug-86(4) Marketing Approval Date: 29-Dec-89(1), 29-Dec-89(2),
21-Dec-00(4)

Generic Name: Botulinum toxin type A Trade Name:

Orphan Indication: Treatment of synkinetic closure of the eyelid associated with VII cranial nerve aberrant regeneration.
Sponsor: Botulinum Toxin Research Associates, Inc. Contact: Dr. Gary Borodic
Address: Quincy, MA Phone: 6177700011 Fax: 6177700030
Status: Designated Designation Date: 15-Sep-92 Marketing Approval Date:

Generic Name: Botulinum toxin type A Trade Name: Dysport

Orphan Indication: 1). Treatment of spasmodic torticollis (cervical dystonia). 2). Treatment of dynamic muscle contractures in pediatric cerebral palsy patients.
Sponsor: Ipsen Limited Contact: Dr. Jill Hillier
Address: U.K. SL6 4UH, GB Phone: 5084780144 Fax: 5084733531
Status: Designated Designation Date: 12-Aug-98(1), 20-Oct-99(2), Marketing Approval Date:

Generic Name: Botulinum toxin type A Trade Name: Dysport

Orphan Indication: Treatment of essential blepharospasm.
Sponsor: Porton International, Inc. Contact: Dr. Jill Hillier
Address: Washington, DC Phone: 5084780144 Fax: 5084733531
Status: Designated Designation Date: 23-Mar-89 Marketing Approval Date:

Generic Name: Botulinum toxin type B Trade Name: NeuroBloc

Orphan Indication: Treatment of cervical dystonia.
Sponsor: Elan Pharmaceuticals, Inc. Contact: Mr. Steven Morrissey
Address: South San Francisco, CA Phone: (800) 435-5108 Fax: (650) 616-5053
Status: Designated/Approved Designation Date: 16-Jan-92 Marketing Approval Date: 08-Dec-00

Generic Name: Botulinum toxin type F Trade Name: Dysport

Orphan Indication: 1). Treatment of essential blepharospasm. 2). Treatment of spasmodic torticollis (cervical dystonia).
Sponsor: Ipsen Limited (name changed from Porton Contact: Dr. Jill Hillier International Inc)
Address: Milford, MA Phone: 5084780144 Fax: 5084733531
Status: Designated Designation Date: 05-Dec-91 (1), 24-Oct-91(2), Marketing Approval Date:

Generic Name: Botulism immune globulin Trade Name:

Orphan Indication: Treatment of infant botulism.
Sponsor: California Department of Health Services Contact: Dr. Stephen Arnon
Address: Berkeley, CA Phone: (510) 540-2646 Fax: (510) 540-3205
Status: Designated Designation Date: 31-Jan-89 Marketing Approval Date:

Generic Name: Bovine colostrum Trade Name:

Orphan Indication: Treatment of AIDS-related diarrhea.
Sponsor: Hastings, Donald DVM Contact: Dr. Donald Hastings
Address: Bismarck, ND Phone: (701) 223-3036 Fax:
Status: Designated Designation Date: 19-Nov-90 Marketing Approval Date:

Generic Name: Bovine immunoglobulin concentrate, Cryptosporidium parvum Trade Name: Sporidin-G
Orphan Indication: Treatment and symptomatic relief of Cryptosporidium parvum infection of the gastrointestinal tract in immunocompromised patients.
Sponsor: GalaGen, Inc. Contact: Ms. Lynda Sutton
Address: Arden Hills, MN Phone: (919) 361-2286 Fax: (919) 361-2290
Status: Designated Designation Date: 01-Mar-94 Marketing Approval Date:

Generic Name: Bovine whey protein concentrate Trade Name: Immuno-C

Orphan Indication: Treatment of cryptosporidiosis caused by the presence of Cryptosporidium parvum in the gastrointestinal tract of patients who are
immunodeficient/immunocompromised or immunocompetent.
Sponsor: Biomune Systems, Inc. Contact: Dr. Frank Eldredge
Address: Salt Lake City, UT Phone: (801) 582-2345 Fax:
Status: Designated Designation Date: 30-Sep-93 Marketing Approval Date:
138
Generic Name: Branched chain amino acids Trade Name:
Orphan Indication: Treatment of amyotrophic lateral sclerosis.
Sponsor: Mount Sinai Medical Center Contact: Dr. Andreas Plaitakis
Address: New York, NY Phone: (212) 241-7310 Fax:
Status: Designated Designation Date: 23-Dec-88 Marketing Approval Date:

Generic Name: Brimonidine Trade Name: Alphagan

Orphan Indication: Treatment of anterior ischemic optic neuropathy.
Sponsor: Allergan, Inc. Contact: Mr. Peter Kresel
Address: Irvine, CA Phone: (714) 246-5882 Fax:
Status: Designated Designation Date: 07-Feb-00 Marketing Approval Date:

Generic Name: Bromhexine Trade Name: Bisolvon

Orphan Indication: Treatment of mild to moderate keratoconjunctivitis sicca in patients with Sjogren's syndrome.
Sponsor: Boehringer Ingelheim Pharmaceuticals, Inc. Contact: Dr. C. Richard Tamorria
Address: Ridgefield, CT Phone: (203) 798-4344 Fax: (203) 791-6262
Status: Designated Designation Date: 15-May-89 Marketing Approval Date:

Generic Name: Broxuridine Trade Name: Broxine/Neomark

Orphan Indication: Radiation sensitizer in the treatment of primary brain tumors.
Sponsor: NeoPharm, Inc. Contact: Dr. William Govier
Address: Lake Forest, IL Phone: (708) 295-8678 Fax:
Status: Designated Designation Date: 18-Sep-95 Marketing Approval Date:

Generic Name: Buffered intrathecal electrolyte/dextrose injection Trade Name: Elliotts B Solution
Orphan Indication: For use as a diluent in the intrathecal administration of methotrexate and cytarabine for the prevention or treatment meningeal leukemia and lymphocytic
lymphoma.
Sponsor: Orphan Medical, Inc. Contact: Dr. Dayton Reardon
Address: Minnetonka, MN Phone: (612) 513-6900 Fax: (612) 541-9209
Status: Designated/Approved Designation Date: 24-Aug-94 Marketing Approval Date: 27-Sep-96

Generic Name: Buprenorphine hydrochloride Trade Name: Subutex

Orphan Indication: Treatment of opiate addiction in opiate users.
Sponsor: Reckitt & Colman Pharmaceuticals, Inc. Contact: Mr. Alan Young
Address: Richmond, VA Phone: (804) 379-1090 Fax: (804) 379-1215
Status: Designated Designation Date: 15-Jun-94 Marketing Approval Date:

Generic Name: Buprenorphine in combination with naloxone Trade Name: Suboxone

Orphan Indication: Treatment of opiate addiction in opiate users.
Sponsor: Reckitt & Colman Pharmaceuticals, Inc. Contact: Mr. Alan Young
Address: Richmond, VA Phone: (804) 379-1090 Fax: (804) 379-1215
Status: Designated Designation Date: 27-Oct-94 Marketing Approval Date:

Generic Name: Busulfan Trade Name: Spartaject

Orphan Indication: Treatment of primary brain malignancies.
Sponsor: SuperGen, Inc. Contact: Dr. Sam Boddapati
Address: San Ramon, CA Phone: 9253270200 Fax: 9259041921
Status: Designated Designation Date: 07-Jul-97 Marketing Approval Date:

Generic Name: Busulfan Trade Name: Spartajet-Busulfan

Orphan Indication: Intrathecal therapy for neoplastic meningitis
Sponsor: The Brain Tumor Center at Duke Contact: Dr. Henry Friedman
Address: Durham, NC Phone: 9196845301 Fax:
Status: Designated Designation Date: 05-Mar-01 Marketing Approval Date:

Generic Name: Busulfan Trade Name: Spartaject

Orphan Indication: For use as preparative therapy for malignancies treated with bone marrow transplantation.
Sponsor: Sparta Pharmaceuticals, Inc. Contact: Ms. Cris Friedman
Address: Horsham, PA Phone: (215) 442-1700 Fax: (215) 442-1827
Status: Designated Designation Date: 21-Apr-94 Marketing Approval Date:

Generic Name: Busulfan Trade Name: Busulfex

Orphan Indication: As preparative therapy in the treatment of malignancies with bone marrow transplantation.
Sponsor: Orphan Medical, Inc. Contact: Ms. Carol Curme
Address: Minnetonka, MN Phone: 9525136974 Fax: 9525419209
Status: Designated/Approved Designation Date: 28-Jul-94 Marketing Approval Date: 04-Feb-99

Generic Name: Butyrylcholinesterase Trade Name:

Orphan Indication: 1). For the reduction and clearance of toxic blood levels of cocaine encountered during a drug overdose. 2). Treatment of post-surgical apnea.
Sponsor: Shire Laboratories Inc. Contact: Ms. Tami Martin
Address: Rockville, MD Phone: (301) 838-2500 Fax: (301) 838-2501
Status: Designated Designation Date: 25-Mar-92 (1), 30-Sep-92(2), Marketing Approval Date:

Generic Name: BW 12C Trade Name:

Orphan Indication: Treatment of sickle cell disease.
Sponsor: Burroughs Wellcome Company Contact: Dr. Michael Dalton
Address: Research Triangle Pk, NC Phone: (919) 248-4453 Fax:
Status: Designated Designation Date: 23-Oct-87 Marketing Approval Date:

Generic Name: C1 esterase inhibitor (human) Trade Name:

139
Orphan Indication: Treatment and prevention of angioedema caused by C1-esterase inhibitor deficiency.
Sponsor: Alpha Therapeutic Corporation Contact: Ms. Claudia Miller
Address: Los Angeles, CA Phone: (323) 227-7580 Fax:
Status: Designated Designation Date: 21-Aug-96 Marketing Approval Date:

Generic Name: C1-esterase-inhibitor, human, pasteurized Trade Name: Berinert P

Orphan Indication: Prevention and/or treatment of acute attacks of hereditary angioedema.
Sponsor: Aventis Behring L.L.C. Contact: Mr. Victor Paulus
Address: King of Prussia, PA Phone: (610) 878-4052 Fax: (610) 878-4009
Status: Designated Designation Date: 16-Oct-92 Marketing Approval Date:

Generic Name: C1-inhibitor Trade Name: C1-inhibitor (human) vapor heated, Immuno
Orphan Indication: 1). Prevention of acute attacks of angioedema, including short-term prophylaxis for patients requiring dental or other surgical procedures. 2). Treatment of
acute attacks of angioedema.
Sponsor: Baxter Healthcare Corp. Contact: Ms. Arlene Vidor
Address: Glendale, CA Phone: 8185075523 Fax: ( ) -
Status: Designated Designation Date: 30-Aug-90 (1), 30-Aug-90(2), Marketing Approval Date:

Generic Name: Caffeine Trade Name: Cafcit

Orphan Indication: Treatment of apnea of prematurity.
Sponsor: O.P.R. Development, L.P. Contact: Mr. Sean Alan F.X. Reade
Address: Lawrence, KS Phone: (614) 241-4131 Fax: (614) 276-0321
Status: Designated/Approved Designation Date: 20-Sep-88 Marketing Approval Date: 21-Sep-99

Generic Name: Calcitonin salmon nasal spray Trade Name: Miacalcin Nasal Spray
Orphan Indication: Treatment of symptomatic Paget's disease (osteitis deformans).
Sponsor: Sandoz Pharmaceuticals Corp. Contact: Jerry Klinek
Address: East Hanover, NJ Phone: (201) 503-7646 Fax:
Status: Designated/Withdrawn Designation Date: 29-Oct-90 Marketing Approval Date:

Generic Name: Calcitonin-human for injection Trade Name: Cibacalcin

Orphan Indication: Treatment of symptomatic Paget's disease (osteitis deformans).
Sponsor: Novartis Pharmaceutical Corporation Contact: Ms. Nancy Price
Address: East Hanover, NJ Phone: (201) 503-7500 Fax:
Status: Designated/Approved Designation Date: 20-Jan-87 Marketing Approval Date: 31-Oct-86

Generic Name: Calcium acetate Trade Name: Phos-Lo

Orphan Indication: Treatment of hyperphosphatemia in end stage renal failure.
Sponsor: Braintree Laboratories Contact: Dr. Mark Cleveland
Address: Braintree, MA Phone: (617) 843-2202 Fax:
Status: Designated/Approved Designation Date: 22-Dec-88 Marketing Approval Date: 10-Dec-90

Generic Name: Calcium acetate Trade Name:

Orphan Indication: Treatment of hyperphosphatemia in end stage renal disease.
Sponsor: Pharmedic Company Contact: Ms. Joan Carter
Address: Lake Forest, IL Phone: (708) 549-8500 Fax:
Status: Designated Designation Date: 27-Jun-89 Marketing Approval Date:

Generic Name: Calcium carbonate Trade Name: R & D calcium carbonate/600

Orphan Indication: Treatment of hyperphosphatemia in patients with end stage renal disease.
Sponsor: R & D Laboratories, Inc. Contact: Dr. Rhoda Makoff
Address: Marina Del Rey, CA Phone: (310) 305-8053 Fax:
Status: Designated Designation Date: 06-Jun-90 Marketing Approval Date:

Generic Name: Calcium gluconate Trade Name: Calgonate

Orphan Indication: For use as a wash for hydrofluoric acid spills on human skin.
Sponsor: Calgonate Corp. Contact: Mr. Howard Haronian
Address: Warwick, RI Phone: (401) 739-9330 Fax: (401) 738-8144
Status: Designated Designation Date: 20-Nov-97 Marketing Approval Date:

Generic Name: Calcium gluconate gel Trade Name: H-F Gel

Orphan Indication: For use in the emergency topical treatment of hydrogen fluoride (hydrofluoric acid) burns.
Sponsor: LTR Pharmaceuticals, Inc. Contact: Dr. Louis Luzzi
Address: Narragansett, RI Phone: (401) 789-1865 Fax: (401) 783-1361
Status: Designated Designation Date: 21-May-91 Marketing Approval Date:

Generic Name: Calcium gluconate gel 2.5% Trade Name:

Orphan Indication: Emergency topical treatment of hydrogen fluoride (hydrofluoric acid) burns.
Sponsor: Paddock Laboratories, Inc. Contact: Ms. Mary Beth Erstad
Address: Minneapolis, MN Phone: (612) 546-4676 Fax:
Status: Designated Designation Date: 10-Sep-90 Marketing Approval Date:

Generic Name: Calfactant Trade Name: Infasurf

Orphan Indication: Acute respiratory distress syndrome (ARDS)
Sponsor: ONY, Inc. Contact: Dr. Edmund Egan
Address: Amherst, NY Phone: 7166369096 Fax: 7166363942
Status: Designated Designation Date: 05-Sep-00 Marketing Approval Date:

Generic Name: Carbamylglutamic acid Trade Name:

Orphan Indication: Treatment of N-acetylglutamate synthetase deficiency.
Sponsor: Orphan Europe Contact: Mr. Milton Ellis
Address: 92046 Paris La Defense, FR Phone: (615) 399-0700 Fax: (615) 399-2285
140
Status: Designated Designation Date: 20-Jan-98 Marketing Approval Date:

Generic Name: Carbovir Trade Name:

Orphan Indication: Treatment of persons with AIDS and in patients with symptomatic HIV infection and a CD4 count less than 200/mm3.
Sponsor: Glaxo Wellcome Inc. Contact: Mr. David Cocchetto
Address: Research Triangle Park, NC Phone: (919) 483-2100 Fax:
Status: Designated/Withdrawn Designation Date: 13-Dec-89 Marketing Approval Date:

Generic Name: Carmustine Trade Name:

Orphan Indication: Treatment of intracranial malignancies.
Sponsor: Direct Therapeutics, Inc. Contact: Ms. Bonnie Horner
Address: San Bruno, CA Phone: (650) 917-4142 Fax: (650) 320-9650
Status: Designated Designation Date: 03-Jul-00 Marketing Approval Date:

Generic Name: Cascara sagrada fluid extract Trade Name:

Orphan Indication: Treatment of oral drug overdosage to speed lower bowel evacuation.
Sponsor: Intramed Corporation Contact: Dr. John Ward
Address: Augusta, GA Phone: (706) 863-2878 Fax:
Status: Designated Designation Date: 21-Mar-89 Marketing Approval Date:

Generic Name: CD4 human truncated 369 AA polypeptide Trade Name: Soluble T4
Orphan Indication: Treatment of acquired immunodeficiency syndrome.
Sponsor: SmithKline Beecham Contact: Dr. Stella Jones
Address: King Of Prussia, PA Phone: (215) 832-3707 Fax:
Status: Designated/Withdrawn Designation Date: 21-Nov-89 Marketing Approval Date:

Generic Name: CD5-T lymphocyte immunotoxin Trade Name: Xomazyme-H65

Orphan Indication: Treatment of graft versus host disease and/or rejection in patients who have received bone marrow transplants.
Sponsor: Xoma Corporation Contact: Ms. Joan Roelands
Address: Berkeley, CA Phone: (510) 644-1170 Fax:
Status: Designated/Withdrawn Designation Date: 27-Aug-87 Marketing Approval Date:

Generic Name: CDP571 Trade Name:

Orphan Indication: Treatment of Crohn's disease.
Sponsor: Celltech Chiroscience Limited Contact: Dr. James Parker
Address: Berkshire, UK Phone: (978) 897-8404 Fax: (508) 461-0333
Status: Designated Designation Date: 11-Dec-97 Marketing Approval Date:

Generic Name: Centruroides immune F(ab)2 Trade Name: Alacramyn

Orphan Indication: Treatment of scorpion envenomations requiring medical attention.
Sponsor: Silanes Laboratories S.A. de C.V. Contact: Mr. Milton Ellis
Address: , Phone: 6153990700 Fax: 6153991217
Status: Designated Designation Date: 12-Jun-00 Marketing Approval Date:

Generic Name: Ceramide trihexosidase/alpha-galactosidase A Trade Name:

Orphan Indication: Treatment of Fabry's disease.
Sponsor: Genzyme Corporation Contact: Ms. Nicole Brien
Address: Cambridge, MA Phone: (617) 374-7286 Fax: (617) 252-7600
Status: Designated Designation Date: 19-Jan-88 Marketing Approval Date:

Generic Name: Cetiedil citrate injection Trade Name:

Orphan Indication: Treatment of sickle cell disease crisis.
Sponsor: Baker Cummins Pharmaceuticals, Inc. Contact:
Address: , Phone: Fax:
Status: Designated/Withdrawn Designation Date: 22-Dec-88 Marketing Approval Date:

Generic Name: Cetuximab Trade Name:

Orphan Indication: Treatment of squamous cell cancer of the head and neck in patients who express epidermal growth factor receptor.
Sponsor: ImClone Systems Incorporated Contact: Ms. Deborah Lynch
Address: Somerville, NJ Phone: (908) 541-8026 Fax: (908) 704-8325
Status: Designated Designation Date: 03-Jul-00 Marketing Approval Date:

Generic Name: Chenodiol Trade Name: Chenix

Orphan Indication: For patients with radiolucent stones in well opacifying gallbladders, in whom elective surgery would be undertaken except for the presence of increased
surgical risk due to systemic disease or age.
Sponsor: Solvay Contact: Mr. George Severn
Address: Marietta, GA Phone: (404) 578-9000 Fax:
Status: Designated/Approved Designation Date: 21-Sep-84 Marketing Approval Date: 28-Jul-83

Generic Name: Chimeric (human-murine) G250 IgG monoclonal antibody Trade Name:
Orphan Indication: Treatment of renal cell carcinoma.
Sponsor: Wilex Biotechnology GmbH Contact: Dr. E. Hoffmann
Address: Germany, DE Phone: (212) 450-1530 Fax: (212) 450-1535
Status: Designated Designation Date: 24-Jul-00 Marketing Approval Date:

Generic Name: Chimeric M-T412 (human-murine) IgG monoclonal anti-CD4 Trade Name:
Orphan Indication: Treatment of multiple sclerosis.
Sponsor: Centocor, Inc. Contact: Mr. Martin Page
Address: Malvern, PA Phone: (215) 889-4786 Fax:
Status: Designated/Withdrawn Designation Date: 05-Jun-91 Marketing Approval Date:

141
Generic Name: Chimeric, humanized monoclonal antibody to staphylococcus Trade Name:
Orphan Indication: Prophylaxis of Staphylococcus epidermidis sepsis in low birth weight (1500 grams or less) infants.
Sponsor: Biosynexus, Inc. Contact: Dr. Gerald Fischer
Address: Rockville, MD Phone: (301) 294-8604 Fax: (301) 309-0471
Status: Designated Designation Date: 03-Aug-00 Marketing Approval Date:

Generic Name: Chlorhexidine gluconate mouthrinse Trade Name: Peridex

Orphan Indication: For use in the amelioration of oral mucositis associated with cytoreductive therapy used in conditioning patients for bone marrow transplantation therapy.
Sponsor: Procter & Gamble Company Contact: Dr. Ronald Downey
Address: Cincinnati, OH Phone: (513) 626-2514 Fax:
Status: Designated Designation Date: 18-Aug-86 Marketing Approval Date:

Generic Name: Choline chloride Trade Name: Intrachol

Orphan Indication: Treatment of choline deficiency, specifically the choline deficiency, hepatic steatosis, and cholestasis, associated with long-term parenteral nutrition.
Sponsor: Orphan Medical, Inc. Contact: Ms. Carol Curme
Address: Minnetonka, MN Phone: 9525136974 Fax: 9525419209
Status: Designated Designation Date: 10-Feb-94 Marketing Approval Date:

Generic Name: Chondrocyte-alginate gel suspension Trade Name:

Orphan Indication: For use in correcting vesicoureteral reflux in the pediatric population.
Sponsor: Curis, Inc. Contact: Dr. Frank Gentile
Address: Cambridge, MA Phone: 6178760086 Fax: 6178760866
Status: Designated Designation Date: 01-Dec-97 Marketing Approval Date:

Generic Name: Chondroitinase Trade Name:

Orphan Indication: Treatment of patients undergoing vitrectomy.
Sponsor: Bausch & Lomb Pharmaceuticals, Inc. Contact: Mr. Samuel Bohannon
Address: Tampa, FL Phone: (813) 975-7700 Fax: (813) 975-7770
Status: Designated/Withdrawn Designation Date: 09-Feb-95 Marketing Approval Date:

Generic Name: Ciliary neurotrophic factor Trade Name:

Orphan Indication: Treatment of amyotrophic lateral sclerosis.
Sponsor: Regeneron Pharmaceuticals Inc Contact: Mr. Stephen Holst
Address: Tarrytown, NY Phone: (914) 347-7000 Fax:
Status: Designated Designation Date: 30-Jan-92 Marketing Approval Date:

Generic Name: Ciliary neurotrophic factor, recombinant human Trade Name:

Orphan Indication: 1). Treatment of motor neuron disease (including amyotrophic lateral sclerosis, progressive muscular atrophy, progressive bulbar palsy, and primary
lateral sclerosis). 2). Treatment of spinal muscular atrophies.
Sponsor: Syntex-Synergen Neuroscience Contact: Mr. Jeffery Fellows
Address: Boulder, CO Phone: (303) 441-5510 Fax:
Status: Designated/Withdrawn Designation Date: 08-May-92 (1), 02-Apr-92(2), Marketing Approval Date:

Generic Name: Cisplatin / epinephrine Trade Name: IntraDose

Orphan Indication: 1). Treatment of metastatic malignant melanoma. 2). Treatment of squamous cell carcinoma of the head and neck.
Sponsor: Matrix Pharmaceutical, Inc. Contact: Ms. Luana Staiger
Address: Fremont, CA Phone: (510) 742-9900 Fax:
Status: Designated Designation Date: 07-Sep-00(1), 03-Apr-00(2), Marketing Approval Date:

Generic Name: Citric acid, glucono-delta-lactone and magnesium carbonate Trade Name: Renacidin Irrigation
Orphan Indication: Treatment of renal and bladder calculi of the apatite or struvite variety.
Sponsor: United-Guardian, Inc. Contact: Mr. Robert Rubinger
Address: Smithtown, NY Phone: (516) 273-0900 Fax:
Status: Designated/Approved Designation Date: 28-Aug-89 Marketing Approval Date: 02-Oct-90

Generic Name: Cladribine Trade Name: Leustatin injection

Orphan Indication: 1). Treatment of acute myeloid leukemia. 2). Treatment ( inj) of hairy cell leukemia. 3). Treatment of chronic lymphocytic leukemia. 4). Treatment of
non-Hodgkin's lymphoma.
Sponsor: R. W. Johnson Pharmaceutical Research Institute Contact: Mr. Michael Kaufman
Address: Raritan, NJ Phone: (908) 704-4600 Fax:
Status: Designated Designation Date: 20-Jul-90 (1), 15-Nov-90 (2), 31-Dec-90(3), 19-Apr-93 (4) Marketing Approval Date: 26-Feb-93(2)

Generic Name: Cladribine Trade Name: Mylinax

Orphan Indication: Treatment of the chronic progressive form of multiple sclerosis.
Sponsor: R. W. Johnson Pharmaceutical Research Institute Contact: Ms. Eileen Hanigan
Address: Raritan, NJ Phone: (908) 704-5109 Fax:
Status: Designated Designation Date: 19-Apr-94 Marketing Approval Date:

Generic Name: Clindamycin Trade Name: Cleocin

Orphan Indication: 1). Prevention of Pneumocystis carinii pneumonia in AIDS patients. 2). Treatment of Pneumocystis carinii pneumonia associated with AIDS patients.
Sponsor: Pharmacia & Upjohn Contact: Ms. Rebecca Tong
Address: Kalamazoo, MI Phone: (616) 833-8542 Fax: (616) 833-8237
Status: Designated Designation Date: 28-Oct-88(1), 28-Oct-88(2), Marketing Approval Date:

Generic Name: Clofazimine Trade Name: Lamprene

Orphan Indication: Treatment of lepromatous leprosy, including dapsone-resistant lepromatous leprosy and lepromatous leprosy complicated by erythema nodosum
leprosum.
Sponsor: Novartis Pharmaceutical Corporation Contact: Ms. Nancy Price
Address: East Hanover, NJ Phone: (201) 503-7500 Fax:
Status: Designated/Approved Designation Date: 11-Jun-84 Marketing Approval Date: 15-Dec-86

Generic Name: Clonazepam Trade Name: Klonopin

142
Orphan Indication: Treatment of hyperekplexia (startle disease).
Sponsor: Hoffmann-La Roche, Inc. Contact: Mr. Thomas Watson
Address: Nutley, NJ Phone: (201) 812-3724 Fax: (201) 812-3700
Status: Designated Designation Date: 04-Aug-94 Marketing Approval Date:

Generic Name: Clonidine Trade Name: Duraclon

Orphan Indication: For continous epidural administration as adjunctive therapy with intraspinal opiates for the treatment of pain in cancer patients tolerant to, or unresponsive
to, intraspinal opiates.
Sponsor: Roxane Laboratories, Inc. Contact: Mr. Sean Alan F.X. Reade
Address: Columbus, OH Phone: (614) 241-4131 Fax: (614) 276-0321
Status: Designated/Approved Designation Date: 24-Jan-89 Marketing Approval Date: 02-Oct-96

Generic Name: Clostridial collagenase Trade Name:

Orphan Indication: Treatment of advanced (involutional or residual stage) Dupuytren's disease.
Sponsor: Hurst, L. M.D. & Badalamente, M. Ph.D. Contact: Dr. Lawrence Hurst
Address: Stony Brook, NY Phone: 6314447830 Fax: 6314447671
Status: Designated Designation Date: 23-May-96 Marketing Approval Date:

Generic Name: Clotrimazole Trade Name:

Orphan Indication: Treatment of sickle cell disease.
Sponsor: Brugnara, Carlo M.D. Contact: Dr. Carlo Brugnara
Address: Boston, MA Phone: (617) 735-6347 Fax:
Status: Designated Designation Date: 24-Apr-95 Marketing Approval Date:

Generic Name: Coagulation factor IX Trade Name: Mononine

Orphan Indication: Replacement treatment and prophylaxis of the hemorrhagic complications of hemophilia B.
Sponsor: Armour Pharmaceutical Company Contact: Mr. Stewart Mueller
Address: Collegeville, PA Phone: (215) 540-8139 Fax:
Status: Designated/Approved Designation Date: 27-Jun-89 Marketing Approval Date: 20-Aug-92

Generic Name: Coagulation Factor IX (human) Trade Name: AlphaNine

Orphan Indication: For use as replacement therapy in patients with hemophilia B for the prevention and control of bleeding episodes, and during surgery to correct defective
hemostasis.
Sponsor: Alpha Therapeutic Corporation Contact: Ms. M. Sue Preston
Address: Los Angeles, CA Phone: (213) 225-2221 Fax:
Status: Designated/Approved Designation Date: 05-Jul-90 Marketing Approval Date: 31-Dec-90

Generic Name: Coagulation Factor IX (recombinant) Trade Name: BeneFix

Orphan Indication: Treatment of hemophilia B.
Sponsor: Genetics Institute, Inc. Contact: Dr. Frederick Gates
Address: Cambridge, MA Phone: (617) 503-7332 Fax:
Status: Designated/Approved Designation Date: 03-Oct-94 Marketing Approval Date: 11-Feb-97

Generic Name: Coagulation factor VIIa (recombinant) Trade Name: NovoSeven

Orphan Indication: Treatment of bleeding episodes in hemophilia A or B patients with inhibitors to Factor VIII or Factor IX.
Sponsor: Novo Nordisk Pharmaceuticals, Inc. Contact: Dr. Barry Reit
Address: Princeton, NJ Phone: (609) 987-5877 Fax: (609) 921-8082
Status: Designated/Approved Designation Date: 06-Jun-88 Marketing Approval Date: 25-Mar-99

Generic Name: Coenzyme Q10 Trade Name:

Orphan Indication: For the treatrment of Huntington's disease
Sponsor: Vitaline Corporation Contact: Mr. Frank Sasinowski
Address: Ashland, OR Phone: 2027375600 Fax: 2027379329
Status: Designated Designation Date: 05-Mar-01 Marketing Approval Date:

Generic Name: Colchicine Trade Name:

Orphan Indication: For arresting the progression of neurologic disability caused by chronic progressive multiple sclerosis.
Sponsor: Pharmacontrol Corporation Contact: Dr. Laszlo Darko
Address: Englewood Cliffs, NJ Phone: (212) 249-0221 Fax:
Status: Designated/Withdrawn Designation Date: 09-Dec-85 Marketing Approval Date:

Generic Name: Colfosceril palmitate, cetyl alcohol, tyloxapol Trade Name: Exosurf Neonatal for Intratracheal Suspension
Orphan Indication: 1). Prevention of hyaline membrane disease, also known as respiratory distress syndrome, in infants born at 32 weeks gestation or less. 2). Treatment of
established hyaline membrane disease at all gestational ages.
Sponsor: Glaxo Wellcome Inc. Contact: Dr. Michael Dalton
Address: Research Triangle Park, NC Phone: (919) 483-2100 Fax:
Status: Designated/Approved Designation Date: 20-Oct-89(1), 20-Oct-89(2), Marketing Approval Date: 02-Aug-90(1), 02-Aug-90 (2)

Generic Name: Colfosceril palmitate, cetyl alcohol, tyloxapol Trade Name: Exosurf
Orphan Indication: Treatment of adult respiratory distress syndrome.
Sponsor: Glaxo Wellcome Research and Development Contact: Sara Nelson
Address: Research Triangle Park, NC Phone: 9194835140 Fax: (919) 315-0033
Status: Designated Designation Date: 11-Jan-93 Marketing Approval Date:

Generic Name: Collagenase (lyophilized) for injection Trade Name: Plaquase

Orphan Indication: Treatment of Peyronie's disease.
Sponsor: Advance Biofactures Corporation Contact: Mr. Thomas Wegman
Address: Lynbrook, NY Phone: (516) 593-7000 Fax: (516) 593-7039
Status: Designated Designation Date: 12-Mar-96 Marketing Approval Date:

Generic Name: Corticorelin ovine triflutate Trade Name: Acthrel

Orphan Indication: For use in differentiating pituitary and ectopic production of ACTH in patients with ACTH-dependent Cushings syndrome.
143
Sponsor: Ferring Laboratories, Inc. Contact: Mr. Isidoro Nudelman
Address: Suffern, NY Phone: (888) 793-6367 Fax: ( ) -
Status: Designated/Approved Designation Date: 24-Nov-89 Marketing Approval Date: 23-May-96

Generic Name: Corticotropin-releasing factor, human Trade Name: Xerecept

Orphan Indication: Treatment of peritumoral brain edema.
Sponsor: Neurobiological Technologies, Inc. Contact: Ms. Jian Johnson
Address: Richmond, CA Phone: (510) 215-8000 Fax: (510) 215-8100
Status: Designated Designation Date: 06-Apr-98 Marketing Approval Date:

Generic Name: Coumarin Trade Name: Onkolox

Orphan Indication: Treatment of renal cell carcinoma.
Sponsor: Drossapharm LTD Contact: Dr. Sam Boddapati
Address: Switzerland, CH Phone: 925 327-4010 Fax: 925) 377-7347
Status: Designated Designation Date: 22-Dec-94 Marketing Approval Date:

Generic Name: Cromolyn sodium Trade Name: Gastrocrom

Orphan Indication: Treatment of mastocytosis.
Sponsor: Fisons Corporation Contact: Ms. Susan Raymond
Address: Rochester, NY Phone: (716) 475-9000 Fax:
Status: Designated/Approved Designation Date: 08-Mar-84 Marketing Approval Date: 22-Dec-89

Generic Name: Cromolyn sodium 4% ophthalmic solution Trade Name: Opticrom 4% ophthalmic solution
Orphan Indication: Treatment of vernal keratoconjunctivitis.
Sponsor: Fisons Corporation Contact: Ms. Susan Raymond
Address: Rochester, NY Phone: (716) 475-9000 Fax:
Status: Designated/Approved Designation Date: 24-Jul-85 Marketing Approval Date: 03-Oct-84

Generic Name: Cryptosporidium hyperimmune bovine colostrum IgG concentrate Trade Name:
Orphan Indication: Treatment of diarrhea in AIDS patients caused by infection with Cryptosporidium parvum.
Sponsor: ImmuCell Corporation Contact: Dr. Joseph Crabb
Address: Portland, ME Phone: (207) 878-2770 Fax:
Status: Designated Designation Date: 30-Dec-91 Marketing Approval Date:

Generic Name: CT-2584 mesylate Trade Name:

Orphan Indication: 1). Treatment of malignant mesothelioma. 2). Treatment of adult soft tissue sarcoma.
Sponsor: Cell Therapeutics, Inc. Contact: Ms. Jennie Allewell
Address: Seattle, WA Phone: (206) 282-7100 Fax:
Status: Designated Designation Date: 16-Apr-99(1), 16-Apr-99(2), Marketing Approval Date:

Generic Name: CY-1503 Trade Name: Cylexin

Orphan Indication: 1). Treatment of post-ischemic pulmonary reperfusion edema following surgical treatment for chronic thromboembolic pulmonary hypertension. 2).
Treatment of neonates and infants undergoing cardiopulmonary bypass during surgical repair of congenital heart lesions.
Sponsor: Cytel Corporation Contact: Dr. Robert Roe
Address: San Diego, CA Phone: (619) 552-3062 Fax: (619) 552-8801
Status: Designated Designation Date: 22-Dec-93 (1), 18-Jul-97(2), Marketing Approval Date:

Generic Name: CY-1899 Trade Name:

Orphan Indication: Treatment of chronic active hepatitis B infection in HLA-A2 positive patients.
Sponsor: Cytel Corporation Contact: Dr. Robert Roe
Address: San Diego, CA Phone: (619) 552-3062 Fax: (619) 552-8801
Status: Designated Designation Date: 16-Mar-94 Marketing Approval Date:

Generic Name: Cyclosporine 2% ophthalmic ointment Trade Name:

Orphan Indication: 1). Treatment of patients at high risk of graft rejection following penetrating keratoplasty. 2). For use in corneal melting syndromes of known or presumed
immunologic etiopathogenesis, including Mooren's ulcer.
Sponsor: Allergan, Inc. Contact: Ms. Elizabeth Bancroft
Address: Irvine, CA Phone: (714) 246-4391 Fax:
Status: Designated Designation Date: 01-Aug-91 (1), 01-Aug-91(2), Marketing Approval Date:

Generic Name: Cyclosporine in combination with omega-3 polyunsaturated fatty acids Trade Name:
Orphan Indication:
Sponsor: RTP Pharma Corporation Contact: Mr. Peter Vaccari
Address: Durham, NC Phone: 3013091260 Fax: 3013098470
Status: Designated Designation Date: 06-Dec-00 Marketing Approval Date:

Generic Name: Cyclosporine ophthalmic Trade Name: Optimmune

Orphan Indication: Treatment of severe keratoconjunctivitis sicca associated with Sjogren's syndrome.
Sponsor: University Of Georgia Contact: Dr. Renee Kaswan
Address: Athens, GA Phone: (706) 542-3221 Fax:
Status: Designated Designation Date: 09-Nov-88 Marketing Approval Date:

Generic Name: Cyproterone acetate Trade Name: Androcur

Orphan Indication: Treatment of severe hirsutism.
Sponsor: Berlex Laboratories, Inc. Contact: Dr. Suzanne Hampton
Address: Wayne, NJ Phone: (201) 305-5288 Fax:
Status: Designated/Withdrawn Designation Date: 26-Oct-84 Marketing Approval Date:

Generic Name: Cysteamine Trade Name: Cystagon

+Orphan Indication: Treatment of nephropathic cystinosis.
Sponsor: Mylan Laboratories, Inc. Contact: Dr. John O'Donnell
144
Address: Morgantown, WV Phone: (304) 599-2595 Fax:
Status: Designated/Approved Designation Date: 25-Jan-91 Marketing Approval Date: 15-Aug-94

Generic Name: Cysteamine Trade Name:

Orphan Indication: Treatment of nephropathic cystinosis.
Sponsor: Thoene, Jess G., M.D. Contact: Dr. Jess Thoene
Address: Ann Arbor, MI Phone: (734) 763-3427 Fax: (734) 764-0463
Status: Designated Designation Date: 01-May-86 Marketing Approval Date:

Generic Name: Cysteamine hydrochloride Trade Name:

Orphan Indication: Treatment of corneal cystine crystal accumulation in cystinosis patients.
Sponsor: Sigma-Tau Pharmaceuticals, Inc. Contact: Mr. A Hanzas
Address: Gaithersburg, MD Phone: 3016702192 Fax: (301) 948-3194
Status: Designated Designation Date: 19-Aug-97 Marketing Approval Date:

Generic Name: Cystic fibrosis gene therapy Trade Name:

Orphan Indication: Treatment of cystic fibrosis.
Sponsor: Genzyme Corporation Contact: Dr. Mark Hayes
Address: Framingham, MA Phone: 5082713961 Fax: 5082712692
Status: Designated Designation Date: 30-Jun-92 Marketing Approval Date:

Generic Name: Cystic fibrosis Tr gene therapy (recombinant adenovirus) Trade Name: AdGVCFTR.10
Orphan Indication: Treatment of cystic fibrosis.
Sponsor: GenVec, Inc. Contact: Mr. Thomas D'Alonzo
Address: Rockville, MD Phone: (301) 816-0396 Fax: (301) 816-0085
Status: Designated Designation Date: 09-Mar-95 Marketing Approval Date:

Generic Name: Cystic fibrosis transmembrane conductance regulator Trade Name:

Orphan Indication: For cystic fibrosis transmembrane conductance regulator protein replacement therapy in cystic fibrosis patients.
Sponsor: Genzyme Corporation Contact: Ms. Christine Boisclaiar
Address: Framingham, MA Phone: (508) 270-2314 Fax: (508) 872-9080
Status: Designated/Withdrawn Designation Date: 14-Jan-92 Marketing Approval Date:

Generic Name: Cystic fibrosis transmembrane conductance regulator gene Trade Name:
Orphan Indication: Treatment of cystic fibrosis.
Sponsor: Genetic Therapy, Inc. Contact: Mr. Jeffrey Carey
Address: Gaithersburg, MD Phone: (301) 208-2451 Fax: (301) 948-0097
Status: Designated Designation Date: 08-Jan-93 Marketing Approval Date:

Generic Name: Cytarabine liposomal Trade Name: DepoCyt

Orphan Indication: Treatment of neoplastic meningitis.
Sponsor: DepoTech Corporation Contact: Mr. Raymond Lamy
Address: San Diego, CA Phone: (619) 625-2414 Fax: (619) 558-6617
Status: Designated/Approved Designation Date: 02-Jun-93 Marketing Approval Date: 01-Apr-99

Generic Name: Cytomegalovirus immune globulin (human) Trade Name: CytoGam

Orphan Indication: Prevention or attenuation of primary cytomegalovirus disease in immunosuppressed recipients of organ transplants.
Sponsor: Massachussetts Public Health Biologic Laboratories Contact: Dr. Jeanne Leszczynski
Address: Boston, MA Phone: (617) 983-6400 Fax:
Status: Designated/Approved Designation Date: 03-Aug-87 Marketing Approval Date: 04-Dec-98

Generic Name: Cytomegalovirus immune globulin intravenous (human) Trade Name:

Orphan Indication: For use in conjunction with ganciclovir sodium for the treatment of cytomegalovirus pneumonia in bone marrow transplant patients.
Sponsor: Bayer Corporation Contact: Ms.
Address: New Haven, CT Phone: (203) 937-2000 Fax:
Status: Designated Designation Date: 28-Jan-91 Marketing Approval Date:

Generic Name: Daclizumab Trade Name: Zenapax

Orphan Indication: Prevention of acute renal allograft rejection.
Sponsor: Hoffmann-La Roche, Inc. Contact: Ms. Ileana Leon Brown
Address: Nutley, NJ Phone: (201) 812-3720 Fax: (201) 812-3700
Status: Designated/Approved Designation Date: 05-Mar-93 Marketing Approval Date: 10-Dec-97

Generic Name: Dantrolene sodium Trade Name: Dantrium

Orphan Indication: Treatment of the neuroleptic malignant syndrome.
Sponsor: Norwich Eaton Pharmaceuticals Contact: Steven Salerno
Address: Norwich, NY Phone: Fax:
Status: Designated/Withdrawn Designation Date: 14-Dec-87 Marketing Approval Date:

Generic Name: Dapsone USP Trade Name: Dapsone

Orphan Indication: 1). Prophylaxis of toxoplasmosis in severely immunocompromised patients with CD4 counts below 100. 2). Prophylaxis for Pneumocystis carinii
pneumonia. 3). For the combination treatment of Pneumocystis carinii pneumonia in conjunction with trimethoprim.
Sponsor: Jacobus Pharmaceutical Company, Inc. Contact: Mr. David Jacobus
Address: Princeton, NJ Phone: (609) 921-7447 Fax: (609) 799-1176
Status: Designated Designation Date: 07-Nov-94 (1), 24-Dec-91(2), 08-Jan-92(3) Marketing Approval Date:

Generic Name: Daunorubicin citrate liposome injection Trade Name: DaunoXome

Orphan Indication: Treatment of patients with advanced HIV-associated Kaposi's sarcoma.
Sponsor: NeXstar Pharmaceuticals, Inc. Contact: Mr. Stephen Campbell
Address: San Dimas, CA Phone: (909) 592-8530 Fax:
Status: Designated/Approved Designation Date: 14-May-93 Marketing Approval Date: 08-Apr-96

145
Generic Name: Decitabine Trade Name:
Orphan Indication: 1). Treatment of chronic myelogenous leukemia. 2). Treatment of myelodysplastic syndromes.
Sponsor: SuperGen, Inc. Contact: Dr. Sam Boddapati
Address: Dublin, CA Phone: 9255600100 Fax: 9255516472
Status: Designated Designation Date: 08-Mar-99 (1), 05-Jul-85 (2), Marketing Approval Date:

Generic Name: Defibrotide Trade Name:

Orphan Indication: Treatment of thrombotic thrombocytopenic purpura.
Sponsor: Crinos International Contact: Mr. Romano Becatti
Address: Villa Guardia, Italy, Phone: ( ) - Fax:
Status: Designated Designation Date: Marketing Approval Date:

Generic Name: Dehydroepiandrosterone Trade Name:

Orphan Indication: Treatment of systemic lupus erythematosus (SLE) and the reduction in the use of steroids in steroid-dependent SLE patients.
Sponsor: Genelabs Technologies, Inc. Contact: Ms. Kerry Maurer
Address: Redwood City, CA Phone: (650) 562-1428 Fax: (650) 368-0709
Status: Designated Designation Date: 13-Jul-94 Marketing Approval Date:

Generic Name: Dehydroepiandrosterone sulfate sodium Trade Name:

Orphan Indication: 1). To accelerate the re-epithelialization of donor sites in those hospitalized burn patients who must undergo autologous skin grafting. 2). Treatment of
serious burns requiring hospitalization.
Sponsor: Pharmadigm, Inc. Contact: Ms. Catherine Hamilton
Address: Salt Lake City, UT Phone: (801) 464-6103 Fax: (801) 464-6116
Status: Designated Designation Date: 28-Jan-97(1), 29-Jan-97 (2), Marketing Approval Date:

Generic Name: Denileukin diftitox Trade Name: Ontak

Orphan Indication: Treatment of patients with persistent or recurrent cutaneous T-cell lymphoma whose malignant cells express the CD25 component of the IL-2 receptor.
Sponsor: Seragen, Inc. Contact: Dr. Jill Hillier
Address: Hopkinton, MA Phone: (508) 435-2331 Fax: (508) 435-0558
Status: Designated/Approved Designation Date: 21-Aug-96 Marketing Approval Date: 05-Feb-99

Generic Name: Deoxyribose, phosphorothioate Trade Name:

Orphan Indication: Treatment of advanced malignant melanoma (Stages II,III, IV).
Sponsor: Genta, Inc. Contact: Dr. Howard Fingert
Address: Lexington, MA Phone: (781) 860-5149 Fax: (781) 860-5137
Status: Designated Designation Date: 31-Jul-00 Marketing Approval Date:

Generic Name: Deslorelin Trade Name: Somagard

Orphan Indication: Treatment of central precocious puberty.
Sponsor: Roberts Pharmaceutical Corp. Contact: Mr. Richard Raffa
Address: Eatontown, NJ Phone: (732) 389-1182 Fax: (732) 389-1014
Status: Designated Designation Date: 05-Nov-87 Marketing Approval Date:

Generic Name: Desmopressin acetate Trade Name:

Orphan Indication: Treatment of mild hemophilia A and von Willebrand's disease.
Sponsor: Aventis Behring L.L.C. Contact: Ms. Carol Marchione
Address: King of Prussia, PA Phone: 6108784026 Fax:
Status: Designated/Approved Designation Date: 22-Jan-91 Marketing Approval Date: 07-Mar-94

Generic Name: Dexamethasone Trade Name:

Orphan Indication: For use in posterior segment drug delivery system in the treatment of idiopathic intermediate uveitis.
Sponsor: Oculex Pharmaceuticals, Inc. Contact: Ms. Jill Findlay
Address: Sunnyvale, CA Phone: (408) 481-0424 Fax: (408) 481-0662
Status: Designated Designation Date: 11-Sep-98 Marketing Approval Date:

Generic Name: Dexrazoxane Trade Name: Zinecard

Orphan Indication: For the prevention of cardiomyopathy associated with doxorubicin administration.
Sponsor: Pharmacia & Upjohn Contact: Mr. Robert Paarlberg
Address: Kalamazoo, MI Phone: (616) 833-0646 Fax: (616) 833-8237
Status: Designated/Approved Designation Date: 17-Dec-91 Marketing Approval Date: 26-May-95

Generic Name: Dextran 70 Trade Name: Dehydrex

Orphan Indication: Treatment of recurrent corneal erosion unresponsive to conventional therapy.
Sponsor: Holles Laboratories, Inc. Contact: Mr. Peter Lelecas
Address: Cohasset, MA Phone: (781) 383-0741 Fax: (781) 383-0005
Status: Designated Designation Date: 05-Mar-90 Marketing Approval Date:

Generic Name: Dextran and deferoxamine Trade Name: Bio-Rescue

Orphan Indication: Treatment of acute iron poisoning.
Sponsor: Biomedical Frontiers, Inc. Contact: Dr. Bo Hedlund
Address: Minneapolis, MN Phone: (612) 378-0228 Fax:
Status: Designated Designation Date: 08-Mar-91 Marketing Approval Date:

Generic Name: Dextran sulfate (inhaled, aerosolized) Trade Name: Uendex

Orphan Indication: For use as an adjunct to the treatment of cystic fibrosis.
Sponsor: Kennedy & Hoidal, M.D.'s Contact: Dr. John Hoidal
Address: Salt Lake City, UT Phone: (801) 581-7806 Fax:
Status: Designated Designation Date: 05-Oct-90 Marketing Approval Date:

Generic Name: Dextran sulfate sodium Trade Name:

Orphan Indication: Treatment of aquired immunodeficiency syndrome.
Sponsor: Ueno Fine Chemicals Industry, Ltd. Contact: Mr. Armond Welch
146
Address: Osaka 541, Japan, Phone: (202) 452-8666 Fax:
Status: Designated Designation Date: 19-Nov-87 Marketing Approval Date:

Generic Name: Dianeal peritoneal dialysis solution with 1.1% amino acids Trade Name: Nutrineal (Peritoneal Dialysis Solution with 1.1% Amino Acid
Orphan Indication: For use as a nutritional supplement for the treatment of malnourishment in patients undergoing continuous ambulatory peritoneal dialysis.
Sponsor: Baxter Healthcare Corporation Contact: Dr. David Ross
Address: McGaw Park, IL Phone: (847) 473-6081 Fax:
Status: Designated Designation Date: 11-Jun-92 Marketing Approval Date:

Generic Name: Diazepam viscous solution for rectal administration Trade Name:
Orphan Indication: For the management of selected, refractory, patients with epilepsy, on stable regimens of antiepileptic drugs (AEDs), who require intermittent use of
diazepam to control bouts of increased seizure activity.
Sponsor: Athena Neurosciences, Inc. Contact: Ms. Kathleen Dumas
Address: South San Francisco, CA Phone: (415) 877-0900 Fax: (415) 877-8370
Status: Designated/Approved Designation Date: 25-Feb-92 Marketing Approval Date: 29-Jul-97

Generic Name: Diaziquone Trade Name:

Orphan Indication: Treatment of primary brain malignancies (grade III and IV astrocytomas).
Sponsor: Warner-Lambert Company Contact: Ms. Julia Meyer
Address: Ann Arbor, MI Phone: (313) 996-2838 Fax:
Status: Designated/Withdrawn Designation Date: 10-Nov-83 Marketing Approval Date:

Generic Name: Dideoxyinosine Trade Name:

Orphan Indication: Treatment of acquired immunodeficiency syndrome.
Sponsor: Bristol-Myers Squibb Contact:
Address: , Phone: Fax:
Status: Designated/Withdrawn Designation Date: 22-Jun-88 Marketing Approval Date:

Generic Name: Diethyldithiocarbamate Trade Name: Imuthiol

Orphan Indication: Treatment of AIDS.
Sponsor: Connaught Laboratories Contact: Dr. Pinya Cohen
Address: Swiftwater, PA Phone: (717) 839-4590 Fax:
Status: Designated Designation Date: 03-Apr-86 Marketing Approval Date:

Generic Name: Digoxin immune FAB (Ovine) Trade Name: Digibind

Orphan Indication: Treatment of potentially life threatening digitalis intoxication in patients who are refractory to management by conventional therapy.
Sponsor: Glaxo Wellcome Inc. Contact: Dr. Michael Dalton
Address: Research Triangle Park, NC Phone: (919) 483-2100 Fax:
Status: Designated/Approved Designation Date: 01-Nov-84 Marketing Approval Date: 22-Apr-86

Generic Name: Digoxin immune fab(ovine) Trade Name: Digidote

Orphan Indication: Treatment of life-threatening acute cardiac glycoside intoxication manifested by conduction disorders, ectopic ventricular activity and (in some cases)
hyperkalemia.
Sponsor: Boehringer Mannheim Corp. Contact: J. Richard Crout
Address: Rockville, MD Phone: (301) 360-6700 Fax:
Status: Designated Designation Date: 11-Mar-85 Marketing Approval Date:

Generic Name: Dihydrotestosterone Trade Name: Androgel -DHT

Orphan Indication: Treatment of weight loss in AIDS patients with HIV-associated wasting.
Sponsor: Unimed Pharmaceuticals, Inc. Contact: Ms. Judy Athy
Address: Deerfield, IL Phone: (847282-5423 Fax: (847) 374-8480
Status: Designated Designation Date: 05-Feb-96 Marketing Approval Date:

Generic Name: Dimethyl sulfoxide Trade Name:

Orphan Indication: Treatment of cutaneous manifestations of scleroderma.
Sponsor: Research Industries Corp. Contact:
Address: , Phone: Fax:
Status: Designated/Withdrawn Designation Date: 06-Jun-86 Marketing Approval Date:

Generic Name: Dimethyl sulfoxide Trade Name:

Orphan Indication: Treatment of increased intracranial pressure in patients with severe, closed-head injury, also known as traumatic brain coma, for whom no other effective
treatment is available.
Sponsor: Pharma 21 Contact: Dr. Jack de la Torre
Address: La Jolla, CA Phone: (619) 822-3182 Fax: ( ) -
Status: Designated Designation Date: 22-Nov-94 Marketing Approval Date:

Generic Name: Dimethylsulfoxide Trade Name:

Orphan Indication: 1). Topical treatment for the prevention of soft tissue injury following extravastion of cytotoxic drugs. 2). Treatment of palmar-plantar erythrodysethesia
syndrome.
Sponsor: Cancer Technologies, Inc. Contact: Mr. Tim Alberts
Address: Tucson, AZ Phone: (520) 296-8150 Fax: (520) 722-0312
Status: Designated Designation Date: 15-Apr-97(1), 06-Apr-98(2) Marketing Approval Date:

Generic Name: Dipalmitoylphosphatidylcholine /phosphatidylglycerol Trade Name: ALEC

Orphan Indication: Prevention and treatment of neonatal respiratory distress syndrome.
Sponsor: Forum Products, Inc. Contact: Mr. Christopher Remkus
Address: Southampton, NY Phone: (516) 283-5980 Fax:
Status: Designated Designation Date: 28-Jul-88 Marketing Approval Date:

Generic Name: Disaccharide tripeptide glycerol dipalmitoyl Trade Name: Immther

Orphan Indication: Treatment of pulmonary and hepatic metastases in patients with colorectal adenocarcinoma.
Sponsor: ImmunoTherapeutics, Inc. Contact: Dr. Gerald Vosika
147
Address: Moorhead, MN Phone: (701) 239-3775 Fax:
Status: Designated Designation Date: 01-Mar-90 Marketing Approval Date:

Generic Name: Disodium clodronate Trade Name:

Orphan Indication: Treatment of hypercalcemia of malignancy.
Sponsor: Discovery Experimental & Development, Inc. Contact: Mr. James Kimball
Address: Wesley Chapel, FL Phone: (813) 973-7200 Fax:
Status: Designated Designation Date: 16-Jun-93 Marketing Approval Date:

Generic Name: Disodium clodronate tetrahydrate Trade Name: Bonefos

Orphan Indication: Treatment of increased bone resorption due to malignancy.
Sponsor: Anthra Pharmaceuticals, Inc. Contact: Ms. Nabila Turjman
Address: Princeton, NJ Phone: 6095141060 Fax:
Status: Designated Designation Date: 05-Mar-90 Marketing Approval Date:

Generic Name: Disodium silibinin dihemisuccinate Trade Name: Legalon

Orphan Indication: Treatment of hepatic intoxication by Amanita phalloides (mushroom poisoning).
Sponsor: Pharmaquest Corporation Contact: Mr. Richard D'Agostino
Address: San Rafael, CA Phone: (415) 491-6460 Fax:
Status: Designated/Withdrawn Designation Date: 10-Jul-86 Marketing Approval Date:

Generic Name: DMP 777 Trade Name:

Orphan Indication: Therapeutic management of patients with lung disease attributable to cystic fibrosis.
Sponsor: DuPont Pharmaceuticals Company Contact: Dr. Judith Hoglind
Address: Wilmington, DE Phone: (302) 992-3593 Fax: (302) 892-0712
Status: Designated Designation Date: 04-Jun-96 Marketing Approval Date:

Generic Name: DNA-lipid complex (DMRIE/DOPE)/plasmid vector (VCL-1102, Vical) expressing human interleukin-2 Trade Name: Leuvectin
Orphan Indication: Treatment of renal cell carcinoma.
Sponsor: Vical Incorporated Contact: Mr. Steven Kradjian
Address: San Diego, CA Phone: (858) 646-1117 Fax: (858) 646-1151
Status: Designated Designation Date: 28-Apr-00 Marketing Approval Date:

Generic Name: DNP-Modified autologous tumor vaccine Trade Name: O-Vax

Orphan Indication: Adjuvant therapy for the treatment of ovarian cancer
Sponsor: AVAX Technologies, Inc. Contact: Mr. Gary Knappenberger
Address: Kansas City, MO Phone: 8169601333 Fax: 8169604832
Status: Designated Designation Date: 21-Sep-00 Marketing Approval Date:

Generic Name: docosahexanoic acid-paclitaxel Trade Name: Taxoprexin

Orphan Indication: Treatment of hormone-refractory prostate cancer.
Sponsor: Protarga, Inc. Contact: Dr. Forrest Anthony
Address: Conshohocken, PA Phone: 6102604000 Fax: 6102606868
Status: Designated Designation Date: 05-Mar-01 Marketing Approval Date:

Generic Name: Dornase alfa Trade Name: Pulmozyme

Orphan Indication: To reduce mucous viscosity and enable the clearance of airway secretions in patients with cystic fibrosis.
Sponsor: Genentech, Inc. Contact: Dr. M. David MacFarlane
Address: South San Francisco, CA Phone: (415) 225-1000 Fax: (415) 225-6000
Status: Designated/Approved Designation Date: 16-Jan-91 Marketing Approval Date: 30-Dec-93

Generic Name: Doxorubicin liposome Trade Name: Doxil

Orphan Indication: Treatment of ovarian cancer.
Sponsor: Alza Corporation Contact: Mr. Thomas Tarlow
Address: Mountain View, CA Phone: (650) 494-5000 Fax: (650) 321-2417
Status: Designated/Approved Designation Date: 04-Nov-98 Marketing Approval Date: 28-Jun-99

Generic Name: Dronabinol Trade Name: Marinol

Orphan Indication: For the stimulation of appetite and prevention of weight loss in patients with a confirmed diagnosis of AIDS.
Sponsor: Unimed Pharmaceuticals, Inc. Contact: Mr. Donald Peckels
Address: Buffalo Grove, IL Phone: (847) 541-2525 Fax: (847) 541-3706
Status: Designated/Approved Designation Date: 15-Jan-91 Marketing Approval Date: 22-Dec-92

Generic Name: Duramycin Trade Name:

Orphan Indication: Treatment of cystic fibrosis.
Sponsor: MoliChem Medicines Inc. Contact: Dr. Luis Molina
Address: Chapel Hill, NC Phone: (919) 967-9704 Fax:
Status: Designated Designation Date: 11-Dec-97 Marketing Approval Date:

Generic Name: Dynamine Trade Name:

Orphan Indication: 1). Treatment of Lambert Eaton myasthenic syndrome. 2). Treatment of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease).
Sponsor: Mayo Foundation Contact: Dr. Anthony Windebank
Address: Rochester, MN Phone: (507) 284-2511 Fax:
Status: Designated Designation Date: 05-Feb-90 (1), 16-Oct-91(2), Marketing Approval Date:

Generic Name: Eflornithine HCl Trade Name: Ornidyl

Orphan Indication: Treatment of Pneumocystis carinii pneumonia in AIDS patients.
Sponsor: Marion Merrell Dow, Inc. Contact: Gillian Ivers-read
Address: Kansas City, MO Phone: (816) 966-5000 Fax:
Status: Designated/Withdrawn Designation Date: 18-Apr-86 Marketing Approval Date:

Generic Name: Eflornithine HCl Trade Name: Ornidyl

148
Orphan Indication: Treatment of Trypanosoma brucei gambiense infection (sleeping sickness).
Sponsor: Hoechst Marion Roussel Contact: Dr. Jack Dunn
Address: Kansas City, MO Phone: (816) 966-5000 Fax:
Status: Designated/Approved Designation Date: 23-Apr-86 Marketing Approval Date: 28-Nov-90

Generic Name: Elcatonin Trade Name:

Orphan Indication: Intrathecal treatment of intractable pain.
Sponsor: Innapharma, Inc. Contact: Dr. Mary Lou Zett
Address: Upper Saddle River, NJ Phone: (201) 818-1160 Fax: (201) 818-3388
Status: Designated Designation Date: 25-Sep-95 Marketing Approval Date:

Generic Name: Enadoline hydrochloride Trade Name:

Orphan Indication: Treatment of severe head injury.
Sponsor: Warner-Lambert Company Contact: Ms. Margaret Uprichard
Address: Ann Arbor, MI Phone: (313) 996-7000 Fax: (313) 998-3283
Status: Designated Designation Date: 28-Jan-97 Marketing Approval Date:

Generic Name: Encapsulated porcine islet preparation Trade Name: BetaRx

Orphan Indication: Treatment of type I diabetic patients who are already on immunosuppression.
Sponsor: VivoRx Contact: Ms. Marcia Schmehl
Address: Santa Monica, CA Phone: (310) 264-7768 Fax: (310) 453-5409
Status: Designated Designation Date: 05-Jul-95 Marketing Approval Date:

Generic Name: Enisoprost Trade Name:

Orphan Indication: 1). For use with cyclosporine in organ transplant recipients to reduce acute transplant rejection. 2). For use in organ transplant patients to diminish the
nephrotoxicity induced by cyclosporine.
Sponsor: G.D. Searle & Company Contact: Dr. Stacy Suberg
Address: Skokie, IL Phone: (708) 982-8164 Fax:
Status: Designated/Withdrawn Designation Date: 20-Oct-89 (1, 2) Marketing Approval Date:

Generic Name: Epidermal growth factor (human) Trade Name:

Orphan Indication: For promotion of cutaneous wound healing in extreme burn treatment protocols.
Sponsor: Ethicon, Inc. Contact: Jacquelline Coelln
Address: Somerville, NJ Phone: (908) 253-6162 Fax:
Status: Designated/Withdrawn Designation Date: 06-Mar-85 Marketing Approval Date:

Generic Name: Epidermal growth factor (human) Trade Name:

Orphan Indication: For acceleration of corneal epithelial regeneration and the healing of stromal tissue in the condition of non-healing corneal defects.
Sponsor: Chiron Vision Contact: Mr. Mark Stavro
Address: Claremont, CA Phone: (909) 399-1343 Fax:
Status: Designated Designation Date: 05-Oct-87 Marketing Approval Date:

Generic Name: Epirubicin Trade Name: Ellence

Orphan Indication: Treatment of breast cancer.
Sponsor: Pharmacia & Upjohn Company Contact: Ms. Denise Tindle
Address: Kalamazoo, MI Phone: (616) 833-3825 Fax: (616) 833-8237
Status: Designated/Approved Designation Date: 14-Sep-99 Marketing Approval Date: 15-Sep-99

Generic Name: Epoetin alfa Trade Name: Epogen

Orphan Indication: 1). Treatment of anemia associated with end stage renal disease. 2). Treatment of anemia associated with HIV infection or HIV treatment.
Sponsor: Amgen, Inc. Contact: Mr. Ralph Smalling
Address: Thousand Oaks, CA Phone: (805) 447-1000 Fax: (805) 499-8670
Status: Designated/Approved Designation Date: 10-Apr-86(1), 01-Jul-91(2) Marketing Approval Date: 01-Jun-89 (1), 31-Dec-90(2)

Generic Name: Epoetin alfa Trade Name:

Orphan Indication: Treatment of myelodysplastic syndrome.
Sponsor: R. W. Johnson Pharmaceutical Research Institute Contact: Ms. Alysia Baldwin-Ferro
Address: Raritan, NJ Phone: (908) 704-4966 Fax:
Status: Designated Designation Date: 20-Dec-93 Marketing Approval Date:

Generic Name: Epoetin alpha Trade Name: Procrit

Orphan Indication: 1). Treatment of HIV associated anemia related to HIV infection or HIV treatment. 2). Treatment of anemia of prematurity in preterm infants. 3).
Treatment of anemia associated with end stage renal disease.
Sponsor: R. W. Johnson Pharmaceutical Research Institute Contact: Ms. Jean O'Connor
Address: Raritan, NJ Phone: (908) 704-5121 Fax:
Status: Designated Designation Date: 07-Mar-89(1), 21-Jul-88(2), 27-Aug-87(3), Marketing Approval Date:

Generic Name: Epoetin beta Trade Name: Marogen

Orphan Indication: Treatment of anemia associated with end stage renal disease.
Sponsor: Chugai-USA, Inc. Contact: Mr. Joseph Sobota
Address: Waukegan, IL Phone: (708) 244-6025 Fax:
Status: Designated Designation Date: 22-Oct-87 Marketing Approval Date:

Generic Name: Epoprostenol Trade Name: Flolan

Orphan Indication: 1). Treatment of primary pulmonary hypertension. 2). Replacement of heparin in patients requiring hemodialysis and who are at increased risk of
hemorrhage. 3). Treatment of secondary pulmonary hypertension due to intrinsic precapillary pulmonary vascular disease.
Sponsor: Glaxo Wellcome Inc. Contact: Mr. Roger Gaby
Address: Research Triangle Park, NC Phone: (919) 483-9035 Fax: (919) 315-0033
Status: Designated/Approved Designation Date: 25-Sep-85(1), 29-Mar-84(2), 22-Mar-99(3) Marketing Approval Date: 20-Sep-95(1), 14-Apr-00(3)

Generic Name: Epoprostenol Trade Name: Cycloprostin

Orphan Indication: Replacement of heparin in patients requiring hemodialysis and who are at increased risk of hemorrhage.
149
Sponsor: Upjohn Company Contact: Dr. J.R. Ishler
Address: Kalamazoo, MI Phone: (616) 329-8216 Fax:
Status: Designated/Withdrawn Designation Date: 29-Oct-84 Marketing Approval Date:

Generic Name: Erwinia L-asparaginase Trade Name:

Orphan Indication: For use as an alternative to E. coli asparaginase in those situations where repeat courses of asparaginase therapy for acute lymphoblastic leukemia are
required or where allergic reactions force the discontinuance of the E. coli preparation.
Sponsor: Lyphomed, Inc. Contact:
Address: , Phone: Fax:
Status: Designated/Withdrawn Designation Date: 25-Jan-85 Marketing Approval Date:

Generic Name: Erwinia L-asparaginase Trade Name: Erwinase

Orphan Indication: Treatment of acute lymphocytic leukemia.
Sponsor: Porton International, Inc. Contact: Dr. Jill Hillier
Address: Spotsylvania, VA Phone: 5084780144 Fax: 5084733531
Status: Designated Designation Date: 30-Jul-86 Marketing Approval Date:

Generic Name: Erythropoietin (human, recombinant) Trade Name:

Orphan Indication: Treatment of anemia associated with end stage renal disease.
Sponsor: Organon Teknika Corporation Contact:
Address: , Phone: Fax:
Status: Designated/Withdrawn Designation Date: 19-Nov-87 Marketing Approval Date:

Generic Name: Erythropoietin (recombinant human) Trade Name:

Orphan Indication: Treatment of anemia associated with end stage renal disease.
Sponsor: McDonnell Douglas Corp Contact: Mr. Norbert Burlis
Address: St. Louis, MO Phone: (314) 233-2203 Fax:
Status: Designated Designation Date: 19-Aug-87 Marketing Approval Date:

Generic Name: Etanercept Trade Name: Enbrel

Orphan Indication: 1). Treatment of Wegener's granulomatosis. 2). Reduction in signs and symptoms of moderately to severely active polyarticular-course juvenile rheumatoid
arthritis in patients who have had an inadequate response to one or more disease-modifying anti-rheumatic drugs.
Sponsor: Immunex Corporation Contact: Ms. Sally Gould
Address: Seattle, WA Phone: (206) 389-4097 Fax:
Status: Designated Designation Date: 06-Apr-99(1), 27-Oct-98(2) Marketing Approval Date: 27-May-99(2)

Generic Name: Ethanolamine oleate Trade Name: Ethamolin

Orphan Indication: Treatment of patients with esophageal varices that have recently bled, to prevent rebleeding.
Sponsor: Block Drug Company, Inc. Contact: Dr. Richard Bourne
Address: Jersey City, NJ Phone: (201) 434-3000 Fax:
Status: Designated/Approved Designation Date: 22-Mar-84 Marketing Approval Date: 22-Dec-88

Generic Name: Ethinyl Estradiol, USP Trade Name:

Orphan Indication: Treatment of Turner's syndrome.
Sponsor: Bio-Technology General Corp. Contact: Ms. Briti Kundu
Address: Iselin, NJ Phone: (732) 632-8800 Fax: (732) 632-8844
Status: Designated/Withdrawn Designation Date: 22-Jun-88 Marketing Approval Date:

Generic Name: Ethiofos Trade Name:

Orphan Indication: Use as a chemoprotective agent for cisplatin and cyclophosphamide in the treatment of ovarian cancer.
Sponsor: U.S. Bioscience Contact:
Address: , Phone: Fax:
Status: Designated/Withdrawn Designation Date: 01-Aug-89 Marketing Approval Date:

Generic Name: Ethyl eicosapentaenoate Trade Name:

Orphan Indication: Treatment of Huntington's disease.
Sponsor: Laxdale Ltd. Contact: Mr. Frank Sasinowski
Address: United Kingdom, UK Phone: (202) 737-5600 Fax: (202) 737-9329
Status: Designated Designation Date: 06-Apr-00 Marketing Approval Date:

Generic Name: Etidronate disodium Trade Name: Didronel

Orphan Indication: 1). Treatment of degenerative metabolic bone disease occurring in patients who require long term (6 months or greater) total parenteral nutrition. 2).
Prevention of degenerative metabolic bone disease occurring in patients who require long term (6 months or greater) total parenteral nutrition. 3). Treatment of
hypercalcemia of malignancy inadequately managed by dietary modification and/or oral hydration.
Sponsor: MGI Pharma, Inc. Contact: Dr. Jo Gustafson
Address: Bloomington, MN Phone: (612) 346-4722 Fax: (612) 346-4800
Status: Designated/Withdrawn Designation Date: 02-May-91(1, 2), 21-Mar-86(3) Marketing Approval Date: 21-Apr-87(3)

Generic Name: Etiocholanedione Trade Name:

Orphan Indication: 1). Treatment of aplastic anemia. 2). Treatment of Prader-Willi syndrome.
Sponsor: SuperGen, Inc. Contact: Dr. Sam Boddapati
Address: San Ramon, CA Phone: (510) 327-0200 Fax: (510) 327-7347
Status: Designated Designation Date: 03-Nov-95 (1), 07-May-96(2) Marketing Approval Date:

Generic Name: Exemestane Trade Name: Aromasin

Orphan Indication: Treatment of advanced breast cancer in postmenopausal women whose disease has progressed following tamoxifen therapy.
Sponsor: Pharmacia & Upjohn Contact: Ms. Cecilia Blomqvist
Address: Kalamazoo, MI Phone: (616) 833-0774 Fax: (616) 833-8237
Status: Designated/Approved Designation Date: 19-Sep-91 Marketing Approval Date: 21-Oct-99

Generic Name: Exisulind Trade Name:

Orphan Indication: For the suppression and control of colonic adenomatous polyps in the inherited disease adenomatous polyposis coli.
150
Sponsor: Cell Pathways, Inc. Contact: Ms. Katherine Tsokas
Address: Horsham, PA Phone: (215) 706-3827 Fax: (215) 706-3801
Status: Designated Designation Date: 14-Feb-94 Marketing Approval Date:

Generic Name: Factor XIII concentrate (human) pasteurized Trade Name: Fibrogammin P
Orphan Indication: Treatment of congenital factor XIII deficiency.
Sponsor: Aventis Behring L.L.C. Contact: Mr. Victor Paulus
Address: King of Prussia, PA Phone: (610) 878-4052 Fax: (610) 878-4009
Status: Designated Designation Date: 16-Jan-85 Marketing Approval Date:

Generic Name: Factor XIII, recombinant Trade Name:

Orphan Indication: Treatment of congenital factor XIII deficiency.
Sponsor: Zymogenetics, Inc. Contact: Alan Upshall
Address: Seattle, WA Phone: (206) 547-8080 Fax:
Status: Designated/Withdrawn Designation Date: 22-Apr-93 Marketing Approval Date:

Generic Name: Fampridine Trade Name: Neurelan

Orphan Indication: 1). Relief of symptoms of multiple sclerosis. 2). Treatment of chronic, incomplete spinal cord injury.
Sponsor: Acorda Therapeutics Contact: Ms. Veronica Mallon
Address: Hawthorne, NY Phone: (914) 347-4300 Fax: (914) 347-4560
Status: Designated Designation Date: 02-Jun-87(1), 02-Jun-97(2) Marketing Approval Date:

Generic Name: Felbamate Trade Name: Felbatol

Orphan Indication: Treatment of Lennox-Gastaut syndrome.
Sponsor: Wallace Laboratories Contact: Dr. Monroe Klein
Address: Princeton, NJ Phone: (609) 951-2079 Fax:
Status: Designated/Approved Designation Date: 24-Jan-89 Marketing Approval Date: 29-Jul-93

Generic Name: FIAU Trade Name:

Orphan Indication: Adjunctive treatment of chronic active hepatitis B.
Sponsor: Oclassen Pharmaceuticals, Inc. Contact: Mr. Ross Dileo
Address: San Rafael, CA Phone: (415) 258-4556 Fax: (415) 258-4550
Status: Designated Designation Date: 24-Jul-92 Marketing Approval Date:

Generic Name: Fibrinogen (human) Trade Name:

Orphan Indication: For the control of bleeding and prophylactic treatment of patients deficient in fibrinogen.
Sponsor: Alpha Therapeutic Corporation Contact: Ms. M. Sue Preston
Address: Los Angeles, CA Phone: (213) 225-2221 Fax:
Status: Designated Designation Date: 23-Aug-95 Marketing Approval Date:

Generic Name: Fibronectin (human plasma derived) Trade Name:

Orphan Indication: Treatment of non-healing corneal ulcers or epithelial defects which have been unresponsive to conventional therapy and the underlying cause has been
eliminated.
Sponsor: Melville Biologics, Inc. Contact: Dr. Joan Pehta
Address: New York, NY Phone: (212) 570-3255 Fax: (212) 879-5922
Status: Designated Designation Date: 05-Sep-88 Marketing Approval Date:

Generic Name: Fibronectin (plasma derived) Trade Name:

Orphan Indication: Treatment of non-healing corneal ulcers or epithelial defects which are unresponsive to conventional therapy and for which any infectious cause of the
defect has been eliminated.
Sponsor: Chiron Vision Contact: Judy Gordon
Address: Irvine, CA Phone: (714) 768-4690 Fax:
Status: Designated/Withdrawn Designation Date: 05-Dec-88 Marketing Approval Date:

Generic Name: Filgrastim Trade Name: Neupogen

Orphan Indication: 1). For use in the mobilization of peripheral blood progenitor cells for collection in patients who will receive myeloablative or myelosuppressive
chemotherapy. 2). Treatment of patients with severe chronic neutropenia (absolute neutrophil count less than 500/mm3). 3). Treatment of myelodysplastic syndrome. 4).
Reduction in the duration of neutropenia, fever, antibiotic use, and hospitalization, following induction and consolidation treatment for acute myeloid leukemia. 5).
Treatment of patients with AIDS who, in addition, are afflicted with cytomegalovirus retinitis and are being treated with ganciclovir. 6). Treatment of neutropenia associated
with bone marrow transplants.
Sponsor: Amgen, Inc. Contact: Mr. Ralph Smalling
Address: Thousand Oaks, CA Phone: (805) 447-1000 Fax: (805) 499-8670
Status: Designated/Approved Designation Date: 17-Jul-95 (1), 07-Nov-90(2), 30-Aug-90(3), 07-Nov-96(4), 03-Sep-91 (5), 01-Oct-90(6) Marketing Approval Date:
28-Dec-95(1), 19-Dec-94(2) , 02-Apr-98 (4), 15-Jun-94(6)

Generic Name: Flucinolone Trade Name:

Orphan Indication: Treatment uveitis involving the posterior segment of the eye.
Sponsor: Bausch & Lomb Pharmaceuticals, Inc. Contact: Mr. Samuel Bohannon
Address: Tampa, FL Phone: (813) 975-7700 Fax: (813) 975-7757
Status: Designated Designation Date: 31-Jul-00 Marketing Approval Date:

Generic Name: Fludarabine phosphate Trade Name: Fludara

Orphan Indication: 1). Treatment of chronic lymphocytic leukemia (CLL), including refractory CLL. 2). Treatment and management of patients with non-Hodgkins lymphoma.
Sponsor: Berlex Laboratories, Inc. Contact: Mr. Anthony Bourdakis
Address: Richmond, CA Phone: (510) 262-5000 Fax: (510) 262-7053
Status: Designated/Approved Designation Date: 18-Apr-89(1, 2), Marketing Approval Date: 18-Apr-91(1),

Generic Name: Flumecinol Trade Name: Zixoryn

Orphan Indication: Treatment of hyperbilirubinemia in newborn infants unresponsive to phototherapy.
Sponsor: Farmacon, Inc. Contact: Dr. Laszlo Darko
Address: Westport, CT Phone: (203) 255-8898 Fax: (203) 255-3888
Status: Designated/Withdrawn Designation Date: 15-Jan-85 Marketing Approval Date:
151
Generic Name: Flunarizine Trade Name: Sibelium
Orphan Indication: Treatment of alternating hemiplegia.
Sponsor: Janssen Research Foundation Contact: Ms. Ruth Wasserman
Address: Titusville, NJ Phone: (609) 730-2000 Fax:
Status: Designated Designation Date: 06-Jan-86 Marketing Approval Date:

Generic Name: Fluorouracil Trade Name:

Orphan Indication: Treatment of glioblastoma multiforme.
Sponsor: Ethypharm SA Contact: Dr. J. Kay Noel
Address: France, FR Phone: (510) 525-4250 Fax: (510) 528-0374
Status: Designated Designation Date: 29-Jun-00 Marketing Approval Date:

Generic Name: Fluorouracil Trade Name:

Orphan Indication: For use in combination with interferon alpha-2a, recombinant, for the treatment of advanced colorectal carcinoma.
Sponsor: Hoffmann-La Roche, Inc. Contact: Ms. Deborah Savuto
Address: Nutley, NJ Phone: (973) 562-3705 Fax: (973) 562-3700
Status: Designated Designation Date: 18-Apr-90 Marketing Approval Date:

Generic Name: Fluorouracil Trade Name: Adrucil

Orphan Indication: For use in combination with leucovorin for therapy of metastatic adenocarcinoma of the colon and rectum.
Sponsor: Lederle Laboratories Contact: Dr. Vern DeVries
Address: Pearl River, NY Phone: (914) 732-5000 Fax:
Status: Designated Designation Date: 06-Feb-89 Marketing Approval Date:

Generic Name: Fluorouracil Trade Name:

Orphan Indication: For use in combination with interferon alpha-2a, recombinant, for the treatment of esophageal carcinoma.
Sponsor: Hoffmann-La Roche, Inc. Contact: Ms. Deborah Savuto
Address: Nutley, NJ Phone: (973) 562-3705 Fax: (973) 562-3700
Status: Designated Designation Date: 27-Oct-89 Marketing Approval Date:

Generic Name: Fluoxetine Trade Name: Prozac

Orphan Indication: Treatment of autism.
Sponsor: Hollander, MD, Eric Contact: Dr. Eric Hollander
Address: New York, NY Phone: (212) 241-3623 Fax:
Status: Designated Designation Date: 30-Apr-99 Marketing Approval Date:

Generic Name: Follitropin alfa, recombinant Trade Name: Gonal-F

Orphan Indication: For the initiation and re-initiation of spermatogenesis in adult males with reproductive failure due to hypothalamic or pituitary dysfunction,
hypogonadotropic hypogonadism. AMENDED indication 6/27/00: For the induction of spermatogenesis in men with primary and secondary hypogonadotropic
hypogonadism in whom the cause of infertility is not due to primary testicular failure.
Sponsor: Serono Laboratories, Inc. Contact: Ms. Pamela Williamson Joyce
Address: Norwell, MA Phone: 7816812298 Fax: (781) 871-6754
Status: Designated/Approved Designation Date: 21-Dec-98 Marketing Approval Date: 24-May-00

Generic Name: Fomepizole Trade Name: Antizole

Orphan Indication: Treatment of methanol or ethylene glycol poisoning.
Sponsor: Orphan Medical, Inc. Contact: Ms. Carol Curme
Address: Minnetonka, MN Phone: 9525136974 Fax: 9525419209
Status: Designated/Approved Designation Date: 22-Dec-88 Marketing Approval Date: 08-Dec-00

Generic Name: Fosphenytoin Trade Name: Cerebyx

Orphan Indication: For the acute treatment of patients with status epilepticus of the grand mal type.
Sponsor: Warner-Lambert Company Contact: Ms. Janeth Turner
Address: Ann Arbor, MI Phone: (313) 996-7000 Fax: (313) 998-3283
Status: Designated/Approved Designation Date: 04-Jun-91 Marketing Approval Date: 05-Aug-96

Generic Name: Fructose-1,6-diphosphate Trade Name: Cordox

Orphan Indication: Treatment of painful vaso-occlusive episodes associated with sickle cell disease.
Sponsor: Questcor Pharmaceuticals, Inc. Contact: Dr. Jonathan Goldsmith
Address: Hayward, CA Phone: 5107325551 Fax:
Status: Designated Designation Date: 29-May-98 Marketing Approval Date:

Generic Name: Gabapentin Trade Name: Neurontin

Orphan Indication: Treatment of amyotrophic lateral sclerosis.
Sponsor: Warner-Lambert Company Contact: Ms. Janeth Turner
Address: Ann Arbor, MI Phone: (734) 622-7426 Fax: (313) 998-3283
Status: Designated Designation Date: 05-Jul-95 Marketing Approval Date:

Generic Name: Gallium nitrate injection Trade Name: Ganite

Orphan Indication: Treatment of hypercalcemia of malignancy.
Sponsor: Solopak Pharmaceutical Co. Contact: Mr. Jeffrey Ferguson
Address: Elk Grove Village, IL Phone: (847) 806-0080 Fax:
Status: Designated/Approved/With Designation Date: 05-Dec-88 Marketing Approval Date: 17-Jan-91 drawn

Generic Name: Gamma hydroxybutyrate Trade Name:

Orphan Indication: Treatment of narcolepsy and the auxiliary symptoms of cataplexy, sleep paralysis, hypnagogic hallucinations and automatic behavior.
Sponsor: Biocraft Laboratories, Inc. Contact: Ms. Debbie Parker
Address: Fair Lawn, NJ Phone: (201) 703-0400 Fax:
Status: Designated Designation Date: 22-Dec-87 Marketing Approval Date:

Generic Name: Gamma-hydroxybutyric acid Trade Name:

152
Orphan Indication: Treatment of narcolepsy and the auxiliary symptoms of cataplexy, sleep paralysis, hypnagogic hallucinations, and automatic behavior.
Sponsor: Sigma Chemical Company Contact:
Address: , Phone: Fax:
Status: Designated/Withdrawn Designation Date: 22-Jan-85 Marketing Approval Date:

Generic Name: Gammalinolenic acid Trade Name:

Orphan Indication: Treatment of juvenile rheumatoid arthritis.
Sponsor: Zurier, Robert B. M.D. Contact: Dr. Robert Zurier
Address: Worcester, MA Phone: (508) 856-6246 Fax:
Status: Designated Designation Date: 27-Jul-94 Marketing Approval Date:

Generic Name: Ganaxolone Trade Name:

Orphan Indication: Treatment of infantile spasms.
Sponsor: Purdue Pharma L.P. Contact: Mr. Michael Harlow
Address: Norwalk, CT Phone: (203) 854-7561 Fax: (203) 851-5229
Status: Designated Designation Date: 25-May-94 Marketing Approval Date:

Generic Name: Ganciclovir intravitreal implant Trade Name: Vitrasert Implant

Orphan Indication: Treatment of cytomegalovirus retinitis.
Sponsor: Bausch & Lomb Surgical, Chiron Vision Products Contact: Dr. Judy Gordon
Address: Irvine, CA Phone: (714) 768-4690 Fax: (714) 468-4882
Status: Designated/Approved Designation Date: 07-Jun-95 Marketing Approval Date: 04-Mar-96

Generic Name: Ganciclovir sodium Trade Name: Cytovene

Orphan Indication: Treatment of cytomegalovirus retinitis in immunocompromised patients with AIDS.
Sponsor: Syntex (USA), Inc. Contact: Michael Perry
Address: Palo Alto, CA Phone: (415) 354-7453 Fax:
Status: Designated/Approved/With Designation Date: 31-Oct-85 Marketing Approval Date: 23-Jun-89 drawn

Generic Name: Gancyclovir Trade Name:

Orphan Indication: Treatment of severe human cytomegalovirus infections in specific immunosuppressed patient populations.
Sponsor: Burroughs Wellcome Company Contact:
Address: , Phone: Fax:
Status: Designated/Withdrawn Designation Date: 07-Jun-85 Marketing Approval Date:

Generic Name: Gangliosides as sodium salts Trade Name: Cronassial

Orphan Indication: Treatment of retinitis pigmentosa.
Sponsor: Fidia Pharmaceutical Corp. Contact: Jeanne Wadsworth
Address: Washington, DC Phone: (202) 371-9898 Fax:
Status: Designated/Withdrawn Designation Date: 17-Nov-88 Marketing Approval Date:

Generic Name: Gavilimomab Trade Name:

Orphan Indication: Acute graft-versus-host disease (aGVHD)
Sponsor: Abgenix, Inc. Contact: Mr. Lionel Boudrel
Address: Fremont, CA Phone: 5106086500 Fax: 5106086511
Status: Designated Designation Date: 20-Nov-00 Marketing Approval Date:

Generic Name: Gemtuzumab zogamicin Trade Name: Mylotarg

Orphan Indication: Treatment of CD33-positive acute myeloid leukemia.
Sponsor: Wyeth-Ayerst Laboratories Contact: Mr. Barry Sickels
Address: Philadelphia, PA Phone: (610) 902-3742 Fax: (610) 964-5973
Status: Designated/Approved Designation Date: 24-Nov-99 Marketing Approval Date: 17-May-00

Generic Name: Gene plasmid hVEGF165 driven by human cytomegalovirus, and [2,3-bis(oleoyl)propyl]trimethyl ammonium and dioleoyl phosphatidyl Trade Name: Trinam
Orphan Indication: Prevention of complications due to neointimal hyperplasia disease in certain vascular anastomoses.
Sponsor: Ark Therapeutics Ltd. Contact: Dr. James Parker
Address: London W1P 5DJ, UK Phone: (978) 897-5613 Fax: (978) 461-0333
Status: Designated Designation Date: 24-Oct-00 Marketing Approval Date:

Generic Name: Gentamicin impregnated PMMA beads on surgical wire Trade Name: Septopal
Orphan Indication: Treatment of chronic osteomyelitis of post-traumatic, postoperative, or hematogenous origin.
Sponsor: Lipha Pharmaceuticals, Inc. Contact: Mr. Bruce Goddard
Address: New York, NY Phone: (212) 223-1280 Fax: (212) 223-1398
Status: Designated Designation Date: 31-Jan-91 Marketing Approval Date:

Generic Name: Gentamicin liposome injection Trade Name: Maitec

Orphan Indication: Treatment of disseminated Mycobacterium avium-intracellulare infection.
Sponsor: Liposome Company, Inc. Contact: Dr. James Boyle
Address: Princeton, NJ Phone: (609) 452-7060 Fax: (609) 452-1890
Status: Designated Designation Date: 10-Jul-90 Marketing Approval Date:

Generic Name: Glatiramer acetate Trade Name: Copaxone

Orphan Indication: Treatment of multiple sclerosis.
Sponsor: Teva Pharmaceuticals USA Contact: Dr. Stanley Scheindlin
Address: Kulpsville, PA Phone: (800) 999-8382 Fax:
Status: Designated/Approved Designation Date: 09-Nov-87 Marketing Approval Date: 20-Dec-96

Generic Name: Glutamine Trade Name:

Orphan Indication: For use with human growth hormone in the treatment of short bowel syndrome (nutrient malabsorption from the gastrointestinal tract resulting from an
inadequate absorptive surface).
Sponsor: Nutritional Restart Pharmaceutical, L.P. Contact: Ms. Lynda Sutton
Address: Durham, NC Phone: (919) 361-2286 Fax: (919) 361-2290
153
Status: Designated Designation Date: 06-Mar-95 Marketing Approval Date:

Generic Name: Glyceol Trade Name:

Orphan Indication: To decrease intracranial hypertension and/or alleviate cerebral edema in patients who may benefit from osmotherapy.
Sponsor: Chugai Pharmaceutical Co., Ltd. Contact:
Address: , Phone: Fax:
Status: Designated/Withdrawn Designation Date: 22-Feb-90 Marketing Approval Date:

Generic Name: Glyceryl trioleate and glyceryl trierucate Trade Name:

Orphan Indication: Treatment of adrenoleukodystrophy.
Sponsor: Moser, Hugo W. M.D. Contact: Dr. Hugo Moser
Address: Baltimore, MD Phone: (410) 550-9405 Fax:
Status: Designated Designation Date: 14-Feb-95 Marketing Approval Date:

Generic Name: Gonadorelin acetate Trade Name: Lutrepulse

Orphan Indication: For induction of ovulation in women with hypothalamic amenorrhea due to a deficiency or absence in the quantity or pulse pattern of endogenous GnRH
secretion.
Sponsor: Ferring Laboratories, Inc. Contact: Mr. Isidoro Nudelman
Address: Suffern, NY Phone: (888) 793-6367 Fax:
Status: Designated/Approved Designation Date: 22-Apr-87 Marketing Approval Date: 10-Oct-89

Generic Name: Gossypol Trade Name:

Orphan Indication: Treatment of cancer of the adrenal cortex.
Sponsor: Reidenberg, Marcus M. M.D. Contact: Dr. Marcus Reidenberg
Address: New York, NY Phone: (212) 746-6227 Fax:
Status: Designated Designation Date: 22-Oct-90 Marketing Approval Date:

Generic Name: Gp100 adenoviral gene therapy Trade Name:

Orphan Indication: Treatment of metastatic melanoma.
Sponsor: Genzyme Corporation Contact: Dr. Mark Hayes
Address: Framingham, MA Phone: 5082713961 Fax: 5082712692
Status: Designated Designation Date: 25-Mar-97 Marketing Approval Date:

Generic Name: Granulocyte macrophage-colony stimulating factor Trade Name: Leucomax

Orphan Indication: 1 ). Treatment of myelodysplastic syndrome. 2). Treatment of chronic lymphocytic leukemia to increase granulocyte count. 3). Treatment of neutropenia
due to hairy cell leukemia. 4). Treatment of severe thermal injuries in patients with greater than 40% full or partial thickness burns. 5). Treatment of neutropenia
associated with bone marrow transplants.
Sponsor: Schering Corporation Contact: Dr. Alexander Giaquinto
Address: Kenilworth, NJ Phone: (201) 298-4000 Fax:
Status: Designated/Withdrawn Designation Date: 07-Aug-89 (1), 04-May-90(2), 03-May-90 (3), 06-Jun-89(4), 12-Dec-89(5) Marketing Approval Date:

Generic Name: Group B streptococcus immune globulin Trade Name:

Orphan Indication: Treatment of neonates for disseminated group B streptococcal infection.
Sponsor: North American Biologicals, Inc. Contact: Dr. Lewis Pollack
Address: Rockville, MD Phone: (301) 230-3422 Fax: (301) 770-0155
Status: Designated/Withdrawn Designation Date: 08-May-90 Marketing Approval Date:

Generic Name: Growth hormone releasing factor Trade Name:

Orphan Indication: For the long-term treatment of children who have growth failure due to a lack of adequate endogenous growth hormone secretion.
Sponsor: ICN Pharmaceuticals, Inc. Contact: Mr. Anil Hiteshi
Address: Costa Mesa, CA Phone: (714) 545-0100 Fax: (714) 556-0131
Status: Designated Designation Date: 07-Aug-89 Marketing Approval Date:

Generic Name: Guanethidine monosulfate Trade Name: Ismelin

Orphan Indication: Treatment of moderate to severe reflex sympathetic dystrophy and causalgia.
Sponsor: Novartis Pharmaceuticals Corporation Contact: Ms. Nancy Price
Address: East Hanover, NJ Phone: (973) 781-3591 Fax:
Status: Designated/Withdrawn Designation Date: 06-Jan-86 Marketing Approval Date:

Generic Name: Guanfacine Trade Name: Tenex

Orphan Indication: Treatment of fragile X syndrome.
Sponsor: Watson Laboratories, Inc. Contact: Dr. Ron Browne
Address: Corona, CA Phone: (909) 270-1400 Fax: (909) 270-1428
Status: Designated Designation Date: 05-Aug-99 Marketing Approval Date:

Generic Name: Gusperimus Trade Name: Spanidin

Orphan Indication: Treatment of acute renal graft rejection episodes.
Sponsor: Bristol-Myers Squibb Pharmaceutical Research Contact: Mr. John Joseph III Institute
Address: Wallingford, CT Phone: (203) 677-6065 Fax:
Status: Designated/Withdrawn Designation Date: 27-Jun-96 Marketing Approval Date:

Generic Name: h5G1.1-mAb Trade Name:

Orphan Indication: 1). Treatment of dermatomyositis. 2). Idiopathic membranous glomerular nephropathy
Sponsor: Alexion Pharmaceuticals, Inc. Contact: Dr. Nancy Motola Alexion Pharmaceuticals, Inc.
Address: Cheshire, CT Phone: 2032722596 Fax: 2032718198
Status: Designated Designation Date: 21-Sep-00(1), 05-Mar-01(2) Marketing Approval Date:

Generic Name: Halofantrine Trade Name: Halfan

Orphan Indication: Treatment of mild to moderate acute malaria caused by susceptible strains of P. falciparum and P. vivax.
Sponsor: SmithKline Beecham Pharmaceuticals Contact: Dr. Paula Goldberg
Address: Philadelphia, PA Phone: (215) 751-4000 Fax: (215) 751-3400
Status: Designated/Approved Designation Date: 04-Nov-91 Marketing Approval Date: 24-Jul-92
154
Generic Name: Halofuginone Trade Name: Stenorol
Orphan Indication: Treatment of systemic sclerosis.
Sponsor: Collgard Biopharmaceuticals Ltd. Contact: Dr. Neal Farber
Address: Israel, IL Phone: 6179650872 Fax:
Status: Designated Designation Date: 07-Feb-00 Marketing Approval Date:

Generic Name: Heme arginate Trade Name: Normosang

Orphan Indication: 1). Treatment of symptomatic stage of acute porphyria. 2). Treatment of myelodysplastic syndromes.
Sponsor: Berlex Laboratories, Inc. Contact: Ms. Patricia Murphy
Address: Richmond, CA Phone: 5102625022 Fax: ( ) -
Status: Designated Designation Date: 10-Mar-88(1), 01-Mar-94(2) Marketing Approval Date:

Generic Name: Hemin Trade Name: Panhematin

Orphan Indication: Amelioration of recurrent attacks of acute intermittent porphyria (AIP) temporarily related to the menstrual cycle in susceptible women and similar
symptoms which occur in other patients with AIP, porphyria variegata and hereditary coproporphyria.
Sponsor: Abbott Laboratories Contact: Medical Information
Address: Abbott Park, IL Phone: 8006339110 Fax:
Status: Designated/Approved Designation Date: 16-Mar-84 Marketing Approval Date: 20-Jul-83

Generic Name: Hemin and zinc mesoporphyrin Trade Name: Hemex

Orphan Indication: Treatment of acute porphyric syndromes.
Sponsor: Bonkovsky, Herbert L. M.D. Contact: Dr. Herbert Bonkovsky
Address: Worcester, MA Phone: (508) 856-3068 Fax:
Status: Designated Designation Date: 20-Dec-93 Marketing Approval Date:

Generic Name: Hepatitis B immune globulin intravenous (human) Trade Name: Nabi-HB
Orphan Indication: Prophylaxis against hepatitis B virus reinfection in liver transplant patients.
Sponsor: NABI Contact: Dr. Lewis Pollack
Address: Rockville, MD Phone: (301) 770-3099 Fax: (301) 770-3097
Status: Designated Designation Date: 08-Mar-95 Marketing Approval Date:

Generic Name: Herpes simplex virus gene Trade Name:

Orphan Indication: Treatment of primary and metastatic brain tumors.
Sponsor: Genetic Therapy, Inc. Contact: Mr. Jeffrey Carey
Address: Gaithersburg, MD Phone: (301) 208-2451 Fax: (301) 948-0097
Status: Designated Designation Date: 16-Oct-92 Marketing Approval Date:

Generic Name: Histamine Trade Name: Maxamine

Orphan Indication: 1). Adjunct to cytokine therapy in the treatment of acute myeloid leukemia. 2). For use as an adjunct to cytokine therapy in the treatment of malignant
melanoma.
Sponsor: Maxim Pharmaceuticals, Inc. Contact: Mr. Charles Davis
Address: San Diego, CA Phone: 8584534040 Fax:
Status: Designated Designation Date: 15-Dec-99(1), 01-Feb-00(2) Marketing Approval Date:

Generic Name: Histrelin Trade Name:

Orphan Indication: Treatment of acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria.
Sponsor: Anderson, Karl E., M.D. Contact: Dr. Karl Anderson
Address: Galveston, TX Phone: (409) 772-4661 Fax:
Status: Designated Designation Date: 03-May-91 Marketing Approval Date:

Generic Name: Histrelin acetate Trade Name: Supprelin Injection

Orphan Indication: Treatment of central precocious puberty.
Sponsor: Roberts Pharmaceutical Corp. Contact: Mr. Drew Karlan
Address: Eatontown, NJ Phone: (732) 389-1182 Fax:
Status: Designated/Approved Designation Date: 10-Aug-88 Marketing Approval Date: 24-Dec-91

Generic Name: HIV neutralizing antibodies Trade Name: Immupath

Orphan Indication: Treatment of acquired immunodeficiency syndrome.
Sponsor: Hemacare Corporation Contact: Dr. Joshua Levy
Address: Sherman Oaks, CA Phone: (818) 986-3883 Fax:
Status: Designated/Withdrawn Designation Date: 24-Mar-92 Marketing Approval Date:

Generic Name: HLA-B7/Beta2M DNA Lipid (DMRIE/DOPE) Complex Trade Name: Allovectin-7
Orphan Indication: Treatment of invasive and metastatic melanoma (Stages II, III, and IV).
Sponsor: Vical Incorporated Contact: Mr. Steven Kradjian
Address: San Diego, CA Phone: (858) 646-1117 Fax: (858) 646-1151
Status: Designated Designation Date: 30-Sep-99 Marketing Approval Date:

Generic Name: HPA-23 Trade Name:

Orphan Indication: Treatment of acquired immunodeficiency syndrome.
Sponsor: Rhone-Poulenc Rorer Pharm. Contact: Judith Plon
Address: Collegeville, PA Phone: (610) 454-3024 Fax:
Status: Designated/Withdrawn Designation Date: 17-Jul-85 Marketing Approval Date:

Generic Name: Hsp E7 Trade Name:

Orphan Indication: Treatment of recurrent respiratory papillomatosis (RRP)
Sponsor: StressGen Biotechnologies, Inc. Contact: Dr. Richard Currano
Address: Collegeville, PA Phone: 4105432738 Fax:
Status: Designated Designation Date: 19-Mar-01 Marketing Approval Date:

Generic Name: Human acid precursor alpha-glucosidase, recombinant Trade Name:

155
Orphan Indication: Treatment of glycogen storage disease type II.
Sponsor: Pharming/Genzyme LLC Contact: Ms. Betty Wiley
Address: Framingham, MA Phone: (508) 270-2132 Fax: (508) 271-2692
Status: Designated Designation Date: 10-Sep-96 Marketing Approval Date:

Generic Name: Human IgM monoclonal antibody (C-58) To CMV Trade Name: Centovir
Orphan Indication: 1). Prophylaxis of cytomegalovirus infections in bone marrow transplant patients. 2). Treatment of cytomegalovirus infections in allogenic bone marrow
transplant patients.
Sponsor: Centocor, Inc. Contact: Jon Case
Address: Malvern, PA Phone: (215) 889-4509 Fax:
Status: Designated/Withdrawn Designation Date: 07-Aug-89(1, 2), Marketing Approval Date:

Generic Name: Human immunodeficiency virus immune globulin Trade Name: Hivig
Orphan Indication: 1). Treatment of HIV-infected pediatric patients. 2). Treatment of HIV-infected pregnant women and infants of HIV-infected mothers. 3). Treatment of
AIDS.
Sponsor: NABI Contact: Dr. Pinya Cohen
Address: Boca Raton, FL Phone: (561) 989-5730 Fax: (561) 989-5801
Status: Designated/Withdrawn Designation Date: 04-Jan-95(1), 25-Mar-92(2), 21-Nov-89 (3) Marketing Approval Date:

Generic Name: Human T-lymphotropic virus type III Gp160 antigens Trade Name: Vaxsyn HIV-1
Orphan Indication: Treatment of AIDS.
Sponsor: MicroGeneSys, Inc. Contact: Ms. Carol Cherry
Address: Meriden, CT Phone: (203) 686-0800 Fax: (203) 686-0268
Status: Designated Designation Date: 20-Nov-89 Marketing Approval Date:

Generic Name: Humanized anti-CD2 monoclonal antibody Trade Name:

Orphan Indication: Treatment of graft-versus-host disease.
Sponsor: MedImmune, Inc. Contact: Mr. Bogdan Dziurzynski
Address: Gaithersburg, MD Phone: (301) 527-4261 Fax: (301) 527-4200
Status: Designated Designation Date: 13-Nov-98 Marketing Approval Date:

Generic Name: Humanized anti-human CD2 MAb Trade Name: MEDI-507

Orphan Indication: For the induction of donor-specific immunologic unresponsiveness resulting in prophylaxis of organ rejection without the need for chronic
immunosuppressive therapy, in patients receiving allogeneic renal transplants.
Sponsor: Biotransplant, Inc. Contact: Dr. Robert Kauffman
Address: Charlestown, MA Phone: (617) 241-5200 Fax: (617) 241-8780
Status: Designated Designation Date: 17-Sep-98 Marketing Approval Date:

Generic Name: Humanized anti-tac Trade Name: Zenapax

Orphan Indication: Prevention of acute graft-vs-host disease following bone marrow transplantation.
Sponsor: Hoffmann-La Roche, Inc. Contact: Dr. David Smith
Address: Nutley, NJ Phone: (201) 812-3720 Fax: (201) 812-3700
Status: Designated Designation Date: 05-Mar-93 Marketing Approval Date:

Generic Name: Humanized MAb (IDEC-131) to CD40L Trade Name:

Orphan Indication: Treatment of systemic lupus erythematosus.
Sponsor: Idec Pharmaceuticals Corporation Contact: Ms. Alice Wei
Address: San Diego, CA Phone: (858) 431-8920 Fax: (858) 431-8889
Status: Designated Designation Date: 09-Feb-99 Marketing Approval Date:

Generic Name: Hydroxocobalamin Trade Name: CYANOKIT

Orphan Indication: Treatment of acute cyanide poisoning
Sponsor: Orphan Medical, Inc. Contact: Dr. Dayton Reardon
Address: Minnetonka, MN Phone: 9525136974 Fax: 9525419209
Status: Designated Designation Date: 22-Sep-00 Marketing Approval Date:

Generic Name: Hydroxycobalamin / sodium thiosulfate Trade Name:

Orphan Indication: Treatment of severe acute cyanide poisoning.
Sponsor: Hall, Alan H., M.D. Contact: Dr. Alan Hall
Address: Elk Mountain, WY Phone: (307) 348-7371 Fax: (307) 348-7372
Status: Designated/Withdrawn Designation Date: 04-Oct-85 Marketing Approval Date:

Generic Name: Hydroxyurea Trade Name: Droxia

Orphan Indication: Treatment of patients with sickle cell anemia as shown by the presence of hemoglobin S.
Sponsor: Bristol-Myers Squibb Pharmaceutical Research Contact: Dr. Joseph Linkewich Institute
Address: Princeton, NJ Phone: (609) 252-5761 Fax:
Status: Designated/Approved Designation Date: 01-Oct-90 Marketing Approval Date: 25-Feb-98

Generic Name: Hypericin Trade Name:

Orphan Indication: 1). Treatment of cutaneous T-cell lymphoma. 2). Treatment of glioblastoma multiforme.
Sponsor: Nexell Therapeutics, Inc. Contact: Dr. John Todhunter
Address: Wilmington, DE Phone: (202) 223-0157 Fax: (202) 835-8970
Status: Designated Designation Date: 07-Feb-00(1), 03-Aug-00(2) Marketing Approval Date:

Generic Name: Ibuprofen i.v. solution Trade Name:

Orphan Indication: 1). Treatment of patent ductus arteriosus. 2). Prevention of patent ductus arteriosus.
Sponsor: Farmacon-IL-LLC Contact: Dr. Laszlo Darko
Address: Westport, CT Phone: (203) 255-8898 Fax: (203) 255-3888
Status: Designated Designation Date: 29-Oct-96(1), 29-Oct-96 (2) Marketing Approval Date:

Generic Name: Icodextrin 7.5% with Electrolytes Peritoneal Dialysis Solution Trade Name: Extraneal (with 7.5% Icodextrin) Peritoneal Dialysis Solutio
156
Orphan Indication: Treatment of those patients having end stage renal disease and requiring peritoneal dialysis treatment.
Sponsor: Baxter Healthcare Corporation Contact: Dr. Steven Hoff
Address: McGaw Park, IL Phone: (847) 473-6359 Fax: (847) 473-6952
Status: Designated Designation Date: 18-Jul-97 Marketing Approval Date:

Generic Name: Idarubicin Trade Name: Idamycin

Orphan Indication: 1). Treatment of chronic myelogenous leukemia. 2). Treatment of myelodysplastic syndromes.
Sponsor: Pharmacia & Upjohn Contact: Ms. Marcia Greko
Address: Kalamazoo, MI Phone: (616) 833-7520 Fax: (616) 833-8237
Status: Designated/Withdrawn Designation Date: 02-Dec-92(1, 2) Marketing Approval Date:

Generic Name: Idarubicin HCl for injection Trade Name: Idamycin

Orphan Indication: Treatment of acute lymphoblastic leukemia in pediatric patients.
Sponsor: Pharmacia & Upjohn Contact: Ms. Marcia Greko
Address: Kalamazoo, MI Phone: (616) 833-7520 Fax: (616) 833-8237
Status: Designated Designation Date: 12-Feb-91 Marketing Approval Date:

Generic Name: Idarubicin HCl for injection Trade Name: Idamycin

Orphan Indication: Treatment of acute myelogenous leukemia, also referred to as acute nonlymphocytic leukemia.
Sponsor: Adria Laboratories, Inc. Contact: Mr. Douglas Jones
Address: Columbus, OH Phone: (614) 764-8100 Fax: (614) 764-8102
Status: Designated/Approved Designation Date: 25-Jul-88 Marketing Approval Date: 27-Sep-90

Generic Name: Idoxuridine Trade Name:

Orphan Indication: Treatment of nonparenchymatous sarcomas.
Sponsor: NeoPharm, Inc. Contact: Dr. William Govier
Address: Lake Forest, IL Phone: (708) 295-8678 Fax: (708) 295-8680
Status: Designated Designation Date: 08-Apr-96 Marketing Approval Date:

Generic Name: Ifosfamide Trade Name: Ifex

Orphan Indication: 1). Treatment of bone sarcomas. 2). Treatment of soft tissue sarcomas. 3). Treatment of testicular cancer.
Sponsor: Bristol-Myers Squibb Pharmaceutical Research Contact: Dr. Joseph Linkewich Institute
Address: Princeton, NJ Phone: (609) 252-5761 Fax: (609) 252-6000
Status: Designated Designation Date: 07-Aug-85(1), 07-Aug-85(2), 20-Jan-87(3) Marketing Approval Date: 30-Dec-88(3)

Generic Name: IL-4 Pseudomonas Toxin Fusion Protein (IL-4(38-37)-PE38KDEL) Trade Name:
Orphan Indication: Treatment of astrocytic glioma.
Sponsor: Neurocrine Biosciences, Inc. Contact: Ms. Margaret Valeur-Jensen
Address: San Diego, CA Phone: (858) 658-7670 Fax: (858) 658-7605
Status: Designated Designation Date: 06-Apr-00 Marketing Approval Date:

Generic Name: Iloprost solution for infusion Trade Name:

Orphan Indication: 1). Treatment of heparin-associated thrombocytopenia. 2). Treatment of Raynaud's phenomenon secondary to systemic sclerosis
Sponsor: Berlex Laboratories, Inc. Contact: Dr. Suzanne Hampton
Address: Wayne, NJ Phone: (201) 305-5288 Fax:
Status: Designated/Withdrawn Designation Date: 14-May-90(1), 21-Sep-89(2) Marketing Approval Date:

Generic Name: Imatinib Trade Name: Glivec

Orphan Indication: Treatment of chronic myelogenous leukemia
Sponsor: Novartis Pharmaceuticals Corporation Contact: Ms. Ellen Cutler
Address: East Hanover, NJ Phone: 9737818180 Fax: 9737816325
Status: Designated Designation Date: 31-Jan-01 Marketing Approval Date:

Generic Name: Imciromab pentetate Trade Name: Myoscint

Orphan Indication: Detecting early necrosis as an indication of rejection of orthotopic cardiac transplants.
Sponsor: Centocor, Inc. Contact: Mr. Martin Page
Address: Malvern, PA Phone: (215) 889-4786 Fax:
Status: Designated Designation Date: 25-Jan-89 Marketing Approval Date:

Generic Name: Imexon Trade Name:

Orphan Indication: Treatment of multiple myeloma.
Sponsor: AmpliMed Corporation Contact: Dr. Evan Hersh
Address: Tucson, AZ Phone: (520) 577-1011 Fax: (520) 626-2225
Status: Designated Designation Date: 08-Nov-96 Marketing Approval Date:

Generic Name: Imiglucerase Trade Name: Cerezyme

Orphan Indication: Replacement therapy in patients with types I, II, and III Gaucher's disease.
Sponsor: Genzyme Corporation Contact: Ms. Suzanne Sensabaugh
Address: Cambridge, MA Phone: (617) 374-7455 Fax: (617) 374-7470
Status: Designated/Approved Designation Date: 05-Nov-91 Marketing Approval Date: 23-May-94

Generic Name: Immune globulin intravenous (human) Trade Name: Immune Globulin Intravenous (human) Immuno, Iveegam
Orphan Indication: 1). Treatment of patients with acute myocarditis. 2). 1). Treatment of polymyositis/dermatomyositis. 3). Treatment of juvenile rheumatoid arthritis.
Sponsor: Immuno Clinical Research Corp. Contact: Ms. Marianne Kunschak
Address: New York, NY Phone: (212) 759-3875 Fax: (212) 751-4971
Status: Designated/Withdrawn Designation Date: 22-Nov-93(1), 13-Oct-92(2), 16-Dec-92(3) Marketing Approval Date:

Generic Name: Immune globulin intravenous, human Trade Name: Gamimune N

Orphan Indication: Infection prophylaxis in pediatric patients affected with the human immunodeficiency virus.
Sponsor: Bayer Corporation Contact: Ms.
Address: New Haven, CT Phone: (203) 937-2000 Fax:
157
Status: Designated/Approved Designation Date: 18-Feb-93 Marketing Approval Date: 27-Dec-93

Generic Name: Imported fire ant venom, allergenic extract Trade Name:
Orphan Indication: For skin testing of victims of fire ant stings to confirm fire ant sensitivity and if positive, for use as immunotherapy for the prevention of IgE-mediated
anaphylactic reactions.
Sponsor: ALK Laboratories, Inc. Contact: Mr. John Shumway
Address: Wallingford, CT Phone: (800) 325-7354 Fax:
Status: Designated Designation Date: 12-May-92 Marketing Approval Date:

Generic Name: Indium In-111 murine monoclonal antibody FAB to myosin Trade Name: Myoscint
Orphan Indication: To aid in the diagnosis of myocarditis.
Sponsor: Centocor, Inc. Contact: Mr. Martin Page
Address: Malvern, PA Phone: (215) 889-4786 Fax:
Status: Designated Designation Date: 07-Aug-89 Marketing Approval Date:

Generic Name: Indium In-111 altumomab pentetate Trade Name: Hybri-ceaker

Orphan Indication: Detection of suspected and previously unidentified tumor foci of recurrent colorectal carcinoma.
Sponsor: Hybritech, Inc. Contact: Dr. Joanne Martinis
Address: San Diego, CA Phone: (619) 455-6700 Fax:
Status: Designated/Withdrawn Designation Date: 06-Feb-90 Marketing Approval Date:

Generic Name: Indium-In-111 murine MAb(2B8-MX-DTPA) & Yttrium-Y90 murine MAb(2B8-MX-DTPA) Trade Name: Melimmune
Orphan Indication: Treatment of B-cell non-Hodgkin's lymphoma.
Sponsor: IDEC Pharmaceuticals Corporation Contact: Ms. Alice Wei
Address: San Diego, CA Phone: 8584318920 Fax: (619) 458-8889
Status: Designated Designation Date: 06-Sep-94 Marketing Approval Date:

Generic Name: Infliximab Trade Name: Remicade

Orphan Indication: Treatment of moderately to severely active Crohn's disease for the reduction of the signs and symptoms, in patients who have an inadequate response to
conventional therapy; and treatment of patients with fistulizing Crohn's disease for the reduction in the number of draining enterocutaneous fistula(s).
Sponsor: Centocor, Inc. Contact: Ms. Wan Yin Jung
Address: Malvern, PA Phone: (610) 889-4523 Fax: (610) 651-6123
Status: Designated/Approved Designation Date: 14-Nov-95 Marketing Approval Date: 24-Aug-98

Generic Name: Inosine pranobex Trade Name: Isoprinosine

Orphan Indication: Treatment of subacute sclerosing panencephalitis.
Sponsor: Newport Pharmaceuticals Contact: Dr. Gordon Schooley
Address: Newport Beach, CA Phone: (714) 642-7511 Fax:
Status: Designated Designation Date: 20-Sep-88 Marketing Approval Date:

Generic Name: Interferon alfa-2a Trade Name: Roferon A

Orphan Indication: Treatment of chronic myelogenous leukemia.
Sponsor: Hoffmann-La Roche, Inc. Contact: Ms. Loni da Silva
Address: Nutley, NJ Phone: (201) 812-3674 Fax: (201) 812-3700
Status: Designated/Approved Designation Date: 06-Jun-89 Marketing Approval Date: 19-Oct-95

Generic Name: Interferon alfa-2a (recombinant) Trade Name: Roferon-A

Orphan Indication: 1). For the concomitant administration with fluorouracil for the treatment of advanced colorectal cancer. 2). Treatment of renal cell carcinoma. 3). For use in
combination with fluorouracil for the treatment of esophageal carcinoma. 4). For the treatment of metastatic malignant melanoma in combination with Teceleukin. 5).
Treatment of AIDS related Kaposi's sarcoma. 6). For the concomitant administration with Teceleukin for the treatment of metastatic renal cell carcinoma.
Sponsor: Hoffmann-La Roche, Inc. Contact: Ms. Deborah Savuto
Address: Nutley, NJ Phone: (973) 562-3705 Fax: (973) 562-3700
Status: Designated Designation Date: 14-May-90 (1), 18-Apr-88(2), 27-Oct-89(3), 11-May-90(4), 14-Dec-87(5), 02-May-90 Marketing Approval Date: 21-Nov-88(5)

Generic Name: Interferon alfa-2b (recombinant) Trade Name: Intron A

Orphan Indication: 1 ). Treatment of AIDS-related Kaposi's sarcoma. 2). Treatment of metastatic renal cell carcinoma. 3). Treatment of chronic myelogenous leukemia. 4).
Treatment of ovarian carcinoma. 5). Treatment of invasive carcinoma of the cervix. 6). Treatment of carcinoma in situ of the urinary bladder. 7). Treatment of laryngeal
(respiratory) papillomatosis. 8). Treatment of primary malignant brain tumors. 9). Treatment of acute hepatitis B. 10). Treatment of chronic delta hepatitis.
Sponsor: Schering Corporation Contact: Dr. Alexander Giaquinto
Address: Kenilworth, NJ Phone: (201) 298-4000 Fax:
Status: Designated/Approved Designation Date: 24-Jun-87(1), 22-Jun-87(2), 22-Jun-87(3), 03-Aug-87(4), 18-Apr-88(5), 10-Aug-88(6), 17-Aug-88(7), 13-May-88( 8),
17-Nov-88 (9), 04-May-90(10), Marketing Approval Date: 21-Nov-88(1),

Generic Name: Interferon alfa-nl Trade Name: Wellferon

Orphan Indication: Treatment of AIDS related Kaposi's sarcoma.
Sponsor: Burroughs Wellcome Company Contact: Dr. Michael Dalton
Address: Research Triangle Pk, NC Phone: (919) 315-4453 Fax:
Status: Designated/Withdrawn Designation Date: 25-Aug-86 Marketing Approval Date:

Generic Name: Interferon alfa-nl Trade Name: Wellferon

Orphan Indication: Treatment of human papillomavirus in patients with severe resistant/recurrent respiratory (laryngeal) papillomatosis.
Sponsor: Glaxo Wellcome Inc. Contact: Ms. Mary Martinson
Address: Research Triangle Park, NC Phone: (919) 483-2100 Fax:
Status: Designated/Withdrawn Designation Date: 16-Oct-87 Marketing Approval Date:

Generic Name: Interferon beta (recombinant human) Trade Name: Avonex

Orphan Indication: Treatment of primary brain tumors.
Sponsor: Biogen, Inc. Contact: Dr. Nadine Cohen
Address: Cambridge, MA Phone: 6176793783 Fax: (617) 676-3170
Status: Designated Designation Date: 13-Jan-93 Marketing Approval Date:

Generic Name: Interferon beta (recombinant) Trade Name: r-HuIFN-beta

158
Orphan Indication: 1). For the intralesional and/or systemic treatment of AIDS-related Kaposi's sarcoma. 2). For the systemic treatment of cutaneous T-cell lymphoma. 3).
For the systemic treatment of metastatic renal cell carcinoma.
Sponsor: Biogen, Inc. Contact: Dr. Sylvie Gregoire
Address: Cambridge, MA Phone: (617) 679-2631 Fax: (617) 679-3170
Status: Designated/Withdrawn Designation Date: 09-May-91(1), 18-Apr-91(2), 12-Feb-91(3) Marketing Approval Date:

Generic Name: Interferon beta, recombinant human Trade Name: Betaseron

Orphan Indication: Treatment of acquired immunodeficiency syndrome.
Sponsor: Berlex Laboratories, Inc. Contact: Donald Gay
Address: Richmond, CA Phone: (510) 262-5000 Fax:
Status: Designated/Withdrawn Designation Date: 15-Nov-88 Marketing Approval Date:

Generic Name: Interferon beta-1a Trade Name: Avonex

Orphan Indication: 1). Treatment of multiple sclerosis. 2). Treatment of juvenile rheumatoid arthritis.
Sponsor: Biogen, Inc. Contact: Dr. Burt Adelman
Address: Cambridge, MA Phone: (617) 679-2000 Fax: (617) 679-2617
Status: Designated/Approved Designation Date: 16-Dec-91(1), 14-Oct-98(2) Marketing Approval Date: 16-May-96(1),

Generic Name: Interferon beta-1a Trade Name: Rebif

Orphan Indication: Treatment of patients with secondary progressive multiple sclerosis.
Sponsor: Serono Laboratories, Inc. Contact: Pamela Williamson Joyce
Address: Norwell, MA Phone: (781) 982-9000 Fax: (617) 871-6754
Status: Designated Designation Date: 11-Mar-96 Marketing Approval Date:

Generic Name: Interferon beta-1a (recombinant human) Trade Name: Avonex

Orphan Indication: Treatment of pulmonary fibrosis.
Sponsor: Biogen, Inc. Contact: Dr. Sylvie Gregoire
Address: Cambridge, MA Phone: (617) 679-2631 Fax: (617) 679-3170
Status: Designated Designation Date: 07-Jan-99 Marketing Approval Date:

Generic Name: Interferon beta-1a (recombinant human) Trade Name:

Orphan Indication: Treatment of acute non-A, non-B hepatitis.
Sponsor: Biogen, Inc. Contact: Dr. Sylvie Gregoire
Address: Cambridge, MA Phone: (617) 679-2631 Fax: (617) 679-3170
Status: Designated Designation Date: 24-Jul-92 Marketing Approval Date:

Generic Name: Interferon beta-1a (recombinant) Trade Name: r-HuIFN-beta

Orphan Indication: For the systemic treatment of cutaneous malignant melanoma.
Sponsor: Biogen, Inc. Contact: Dr. Sylvie Gregoire
Address: Cambridge, MA Phone: (617) 679-2631 Fax: (617) 679-3170
Status: Designated/Withdrawn Designation Date: 03-Apr-91 Marketing Approval Date:

Generic Name: Interferon beta-1a (recombinant) Trade Name: Rebif

Orphan Indication: Treatment of symptomatic patients with AIDS including all patients with CD4 T-cell counts less than 200 cells per mm3.
Sponsor: Serono Laboratories, Inc. Contact: Ms. Pamela Williamson Joyce
Address: Norwell, MA Phone: (800) 283-8088 Fax: (781) 871-6754
Status: Designated Designation Date: 02-Dec-92 Marketing Approval Date:

Generic Name: Interferon beta-1b Trade Name: Betaseron

Orphan Indication: Treatment of multiple sclerosis.
Sponsor: Chiron Corp. & Berlex Laboratories Contact: Mr. Dana Redhair
Address: Emeryville, CA Phone: (510) 923-2786 Fax: (510) 923-3344
Status: Designated/Approved Designation Date: 17-Nov-88 Marketing Approval Date: 23-Jul-93

Generic Name: Interferon gamma 1-b Trade Name: Actimmune

Orphan Indication: 1). Treatment of chronic granulomatous disease. 2). Delaying time to disease progression in patients with severe, malignant osteopetrosis. 3). Treatment
of renal cell carcinoma.
Sponsor: Genentech, Inc. Contact: Dr. M. David MacFarlane
Address: South San Francisco, CA Phone: (415) 225-1000 Fax: (415) 225-6000
Status: Designated/Approved Designation Date: 30-Sep-88(1), 30-Sep-96(2), 04-Dec-95 Marketing Approval Date: 20-Dec-90(1), 10-Feb-00(2)

Generic Name: Interleukin-1 alpha, human recombinant Trade Name:

Orphan Indication: 1). For hematopoietic potentiation in aplastic anemia. 2). For the promotion of early engraftment in bone marrow transplantation.
Sponsor: Immunex Corporation Contact: Bogdan Dziurzynski
Address: Seattle, WA Phone: (206) 587-0430 Fax:
Status: Designated/Withdrawn Designation Date: 17-Jun-91(1, 2), Marketing Approval Date:

Generic Name: Interleukin-1 receptor antagonist, human recombinant Trade Name: Antril
Orphan Indication: 1). Treatment of juvenile rheumatoid arthritis. 2). Prevention and treatment of graft versus host disease in transplant recipients.
Sponsor: Amgen, Inc. Contact: Ms. Adele Shoustal
Address: Thousand Oaks, CA Phone: 8054473785 Fax: 8054998703
Status: Designated Designation Date: 23-Sep-91(1), 16-Oct-92 Marketing Approval Date:

Generic Name: Interleukin-2 Trade Name: Teceleukin

Orphan Indication: 1). Treatment of metastatic renal cell carcinoma. 2). Treatment of metastatic malignant melanoma. 3). In combination with interferon alfa-2a for the
treatment of metastatic malignant melanoma. 4). In combination with interferon alfa-2a for the treatment of metastatic renal cell carcinoma.
Sponsor: Hoffmann-La Roche, Inc. Contact: Ms. Ileana Leon
Address: Nutley, NJ Phone: (201) 812-3720 Fax: (201) 812-3700
Status: Designated Designation Date: 05-Feb-90(1), 06-Feb-90(2), 11-May-90(3), 03-May-90(4) Marketing Approval Date:

Generic Name: Interleukin-3 human (recombinant) Trade Name:

Orphan Indication: Promotion of erythropoiesis in Diamond-Blackfan anemia (congenital pure red cell aplasia).
159
Sponsor: Immunex Corporation Contact: Ms. Sally Gould
Address: Seattle, WA Phone: (206) 587-0430 Fax:
Status: Designated/Withdrawn Designation Date: 20-May-91 Marketing Approval Date:

Generic Name: Interleukin-3, human, recombinant Trade Name:

Orphan Indication: For sequential administration with sargramostim to accelerate neutrophil and platelet recovery in patients undergoing autologous bone marrow
transplantation for the treatment of Hodgkin's disease or non-Hodgkin's lymphoma.
Sponsor: Sandoz Pharmaceuticals Corp. Contact: Mr. Robert Mandetta
Address: East Hanover, NJ Phone: (201) 503-8035 Fax:
Status: Designated/Withdrawn Designation Date: 30-Sep-93 Marketing Approval Date:

Generic Name: Iobenguane Sulfate I 131 Trade Name:

Orphan Indication: For use as a diagnostic adjunct in patients with pheochromocytoma.
Sponsor: University of Michigan Contact: Mr. David Hubers
Address: Ann Arbor, MI Phone: 7349365304 Fax: 7349368182
Status: Designated/Approved/With Designation Date: 14-Nov-84 Marketing Approval Date: 21-Mar-90 drawn

Generic Name: Iodine 131 6B-iodomethyl-19-norcholesterol Trade Name:

Orphan Indication: For use in adrenal cortical imaging.
Sponsor: David E. Kuhl, M.D. Contact: Mr. David Hubers
Address: Ann Arbor, MI Phone: 7349365304 Fax: 7349368182
Status: Designated Designation Date: 01-Aug-84 Marketing Approval Date:

Generic Name: Iodine I-123 murine monoclonal antibody to alpha-fetoprotein Trade Name:
Orphan Indication: 1). Detection of hepatocellular carcinoma and hepatoblastoma. 2). Detection of alpha-fetoprotein producing germ cell tumors.
Sponsor: Immunomedics, Inc. Contact: Dr. Joseph Presslitz
Address: Morris Plains, NJ Phone: (201) 605-8200 Fax: (201) 605-8282
Status: Designated Designation Date: 30-Sep-88(1, 2) Marketing Approval Date:

Generic Name: Iodine I-123 murine monoclonal antibody to hCG Trade Name:
Orphan Indication: Detection of hCG producing tumors such as germ cell and trophoblastic cell tumors.
Sponsor: Immunomedics, Inc. Contact: Dr. Joseph Presslitz
Address: Morris Plains, NJ Phone: (973) 605-8200 Fax: (973) 605-8282
Status: Designated Designation Date: 07-Nov-88 Marketing Approval Date:

Generic Name: Iodine I-131 bis(indium-diethylenetriaminepentaacetic acid)tyrosyllysine/hMN-14 x m734 F(ab')2 bispecific monoclonal antibody Trade Name: Pentacea
Orphan Indication: Treatment of small-cell lung cancer.
Sponsor: IBC Pharmaceuticals, L.L.C. Contact: Dr. John Reno
Address: Morris Plains, NJ Phone: (973) 540-9595 Fax:
Status: Designated Designation Date: 22-Feb-00 Marketing Approval Date:

Generic Name: Iodine I-131 Lym-1 Monoclonal Antibody Trade Name:

Orphan Indication: Treatment of B-cell lymphoma.
Sponsor: Lederle Laboratories Division Contact: Allan Hitchcock
Address: Pearl River, NY Phone: (914) 732-5000 Fax:
Status: Designated/Withdrawn Designation Date: 02-Nov-87 Marketing Approval Date:

Generic Name: Iodine I-131 murine monoclonal antibody IgG2a to B cell Trade Name: Immurait, Ll-2-I-131
Orphan Indication: Treatment of B-cell leukemia and B-cell lymphoma.
Sponsor: Immunomedics, Inc. Contact: Dr. Irene Wei
Address: Morris Plains, NJ Phone: (973) 605-8200 Fax: (973) 605-8282
Status: Designated Designation Date: 18-Sep-89 Marketing Approval Date:

Generic Name: Iodine I-131 murine monoclonal antibody to alpha-fetoprotein Trade Name:
Orphan Indication: 1). Treatment of alpha-fetoprotein producing germ cell tumors. 2). Treatment of hepatocellular carcinoma and hepatoblastoma.
Sponsor: Immunomedics, Inc. Contact: Dr. Joseph Presslitz
Address: Morris Plains, NJ Phone: (973) 605-8200 Fax: (973) 605-8282
Status: Designated Designation Date: 30-Sep-88(1, 2) Marketing Approval Date:

Generic Name: Iodine I-131 murine monoclonal antibody to hCG Trade Name:
Orphan Indication: Treatment of hCG producing tumors such as germ cell and trophoblastic cell tumors.
Sponsor: Immunomedics, Inc. Contact: Dr. Joseph Presslitz
Address: Morris Plains, NJ Phone: (973) 605-8200 Fax: (973) 605-8282
Status: Designated Designation Date: 07-Nov-88 Marketing Approval Date:

Generic Name: Iodine I-131 radiolabeled chimeric MAb tumor necrosis treatment (TNT-1B) Trade Name: 131IchTNT-1
Orphan Indication: Treatment of glioblastoma multiforme and anaplastic astrocytoma.
Sponsor: Techniclone Corporation Contact: Dr. Terrence Chew
Address: Tustin, CA Phone: 7145086070 Fax: (714) 734-1692
Status: Designated Designation Date: 12-Feb-99 Marketing Approval Date:

Generic Name: Isobutyramide Trade Name: Isobutyramide oral solution

Orphan Indication: Treatment of beta-hemoglobinopathies and beta-thalassemia syndromes.
Sponsor: Perrine, Susan P., M.D. Contact: Dr. Susan Perrine
Address: Boston, MA Phone: (617) 638-4173 Fax:
Status: Designated Designation Date: 18-Dec-92 Marketing Approval Date:

Generic Name: Isobutyramide Trade Name:

Orphan Indication: Treatment of sickle cell disease and beta thalassemia.
Sponsor: Alpha Therapeutic Corporation Contact: Ms. M. Sue Preston
Address: Los Angeles, CA Phone: (213) 225-2221 Fax: ( ) -
Status: Designated Designation Date: 25-May-94 Marketing Approval Date:
160
Generic Name: Japanese encephalitis vaccine (live, attenuated) Trade Name:
Orphan Indication: Prevention of Japanese encephalitis.
Sponsor: Boran Pharmaceuticals Contact: Dr. John Petricciani
Address: South Korea, KR Phone: (760) 416-0097 Fax: (760) 320-8976
Status: Designated Designation Date: 19-May-99 Marketing Approval Date:

Generic Name: Ketoconazole Trade Name: Nizoral

Orphan Indication: For use with cyclosporine A to diminish the nephrotoxicity induced by cyclosporine in organ transplantation.
Sponsor: Pharmedic Company Contact: Joan Carter
Address: Lake Forest, IL Phone: (708) 549-8600 Fax:
Status: Designated/Withdrawn Designation Date: 27-Mar-91 Marketing Approval Date:

Generic Name: L-2-oxothiazolidine-4-carboxylic acid Trade Name: Procysteine

Orphan Indication: 1). Treatment of amyotrophic lateral sclerosis. 2). Treatment of adult respiratory distress syndrome.
Sponsor: Transcend Therapeutics, Inc. Contact: Mr. John Guley
Address: Cambridge, MA Phone: (617) 374-1200 Fax: (617) 374-1201
Status: Designated Designation Date: 30-Jul-96(1), 14-Jun-94(2) Marketing Approval Date:

Generic Name: L-5-hydroxytryptophan Trade Name:

Orphan Indication: Treatment of tetrahydrobiopterin deficiency.
Sponsor: Watson Laboratories, Inc. Contact: Dr. Ron Browne
Address: Corona, CA Phone: (909) 270-1400 Fax: (909) 270-1428
Status: Designated Designation Date: 20-Jan-99 Marketing Approval Date:

Generic Name: L-baclofen Trade Name:

Orphan Indication: Treatment of trigeminal neuralgia.
Sponsor: Pharmascience Inc. Contact: Ms. Debbie Goodman Davis
Address: Canada H4P 2T4, CA Phone: (201) 569-4662 Fax: (201) 569-6678
Status: Designated Designation Date: 06-Jan-98 Marketing Approval Date:

Generic Name: L-baclofen Trade Name: Neuralgon

Orphan Indication: 1). Treatment of intractable spasticity in children with cerebral palsy. 2). Treatment of intractable spasticity associated with spinal cord injury or multiple
sclerosis.
Sponsor: Pharmascience Inc. Contact: Ms. Debbie Goodman-Davis
Address: Canada, CA Phone: (201) 569-4662 Fax: (201) 569-6678
Status: Designated Designation Date: 30-Jan-92(1), 17-Dec-91(2) Marketing Approval Date:

Generic Name: L-baclofen Trade Name:

Orphan Indication: Treatment of trigeminal neuralgia.
Sponsor: Fromm, Gerhard M.D. Contact: Dr. Gerhard Fromm
Address: Pittsburgh, PA Phone: (412) 648-9200 Fax:
Status: Designated Designation Date: 13-Jul-90 Marketing Approval Date:

Generic Name: L-cycloserine Trade Name:

Orphan Indication: Treatment of Gaucher's disease.
Sponsor: Lev, Meir M.D. Contact: Dr. Meir Lev
Address: New York, NY Phone: (212) 650-7788 Fax: (212) 650-6696
Status: Designated Designation Date: 01-Aug-89 Marketing Approval Date:

Generic Name: L-cysteine Trade Name:

Orphan Indication: For the prevention and lessening of photosensitivity in erythropoietic protoporphyria.
Sponsor: Orphan Pharmaceuticals, U.S.A., Inc. Contact: Dr. Milton Ellis
Address: Nashville, TN Phone: (615) 399-0700 Fax: (615) 399-1217
Status: Designated Designation Date: 16-May-94 Marketing Approval Date:

Generic Name: L-glutamyl-L-tryptophan Trade Name:

Orphan Indication: Treatment of AIDS-related Kaposi's sarcoma.
Sponsor: Cytran Incorporated Contact: Mr. Paul Ketteridge
Address: Kirkland, WA Phone: (425) 889-5812 Fax: 4258223644
Status: Designated Designation Date: 20-Oct-99 Marketing Approval Date:

Generic Name: L-leucovorin Trade Name: Isovorin

Orphan Indication: 1). For use in conjunction with high-dose methotrexate in the treatment of osteosarcoma. 2). For use in combination chemotherapy with the approved
agent 5-fluorouracil in the palliative treatment of metastatic adenocarcinoma of the colon and rectum.
Sponsor: Lederle Laboratories Contact: Dr. Vern DeVries
Address: Pearl River, NY Phone: (914) 732-5000 Fax:
Status: Designated Designation Date: 01-Aug-91( 1), 18-Dec-90(2) Marketing Approval Date:

Generic Name: L-threonine Trade Name:

Orphan Indication: Treatment of spasticity associated with familial spastic paraparesis.
Sponsor: Interneuron Pharmaceuticals, Inc. Contact: Dr. Bobby Sandage, Jr.
Address: Lexington, MA Phone: (781) 861-8444 Fax: (781) 861-3830
Status: Designated/Withdrawn Designation Date: 24-Jul-92 Marketing Approval Date:

Generic Name: L-threonine Trade Name: Threostat

Orphan Indication: Treatment of amyotrophic lateral sclerosis.
Sponsor: Tyson And Associates Contact: Ms. Yvonne Yeh
Address: Hawthorne, CA Phone: (213) 675-1080 Fax:
Status: Designated Designation Date: 06-Feb-89 Marketing Approval Date:

Generic Name: Lactic acid Trade Name: Aphthaid

161
Orphan Indication: Treatment of severe aphthous stomatitis in severely, terminally immunocompromised patients.
Sponsor: Frontier Pharmaceutical, Inc. Contact: Ms. Valerie Alliger Bograd
Address: Farmingdale, NY Phone: (516) 777-1420 Fax: (516) 777-1422
Status: Designated Designation Date: 29-Jun-99 Marketing Approval Date:

Generic Name: Lactobin Trade Name: Lactobin

Orphan Indication: Treatment of AIDS-associated diarrhea unresponsive to initial antidiarrheal therapy.
Sponsor: Roxane Laboratories, Inc. Contact: Mr. Sean Alan F.X. Reade
Address: Columbus, OH Phone: (614) 241-4131 Fax: (614) 276-0321
Status: Designated/Withdrawn Designation Date: 12-Sep-90 Marketing Approval Date:

Generic Name: Lamotrigine Trade Name: Lamictal

Orphan Indication: Treatment of Lennox-Gastaut syndrome.
Sponsor: Glaxo Wellcome Research and Development Contact: Dr. Elizabeth McConnell
Address: Research Triangle Park, NC Phone: (919) 483-6466 Fax: (919) 483-5118
Status: Designated/Approved Designation Date: 23-Aug-95 Marketing Approval Date: 24-Aug-98

Generic Name: Lanreotide, Somatostatin Trade Name: Ipstyl

Orphan Indication: Treatment for acromegly
Sponsor: IPSEN, Inc. Contact: Mr. Steven Scott
Address: Milford, MA Phone: 5084780144 Fax: 5084733531
Status: Designated Designation Date: 11-Sep-00 Marketing Approval Date:

Generic Name: Leflunomide Trade Name:

Orphan Indication: Prevention of acute and chronic rejection in patients who have received solid organ transplants.
Sponsor: Williams, MD, James W. Contact: Dr. James Williams
Address: Chicago, IL Phone: (312) 942-4252 Fax: (312) 942-2867
Status: Designated Designation Date: 18-Oct-96 Marketing Approval Date:

Generic Name: Lepirudin Trade Name: Refluden

Orphan Indication: Treatment of heparin-associated thrombocytopenia type II.
Sponsor: Hoechst Marion Roussel Contact: Mr. B. Randall Vestal
Address: Germany, DE Phone: (919) 462-2342 Fax: (919) 380-1840
Status: Designated/Approved Designation Date: 13-Feb-97 Marketing Approval Date: 06-Mar-98

Generic Name: Leucovorin Trade Name: Leucovorin calcium

Orphan Indication: 1). For rescue use after high dose methotrexate therapy in the treatment of osteosarcoma. 2). For use in combination with 5-fluorouracil for the treatment
of metastatic colorectal cancer.
Sponsor: Immunex Corporation Contact: Ms. Sally Gould
Address: Seattle, WA Phone: (206) 389-4092 Fax:
Status: Designated/Approved Designation Date: 17-Aug-88(1), 08-Dec-86 Marketing Approval Date: 31-Aug-88(1), 12-Dec-91

Generic Name: Leucovorin calcium Trade Name: Wellcovorin

Orphan Indication: For use in combination with 5-fluorouracil for the treatment of metastatic colorectal cancer.
Sponsor: Glaxo Wellcome Research and Development Contact: Mr. Douglas Jones
Address: Research Triangle Park, NC Phone: (919) 483-2100 Fax:
Status: Designated/Withdrawn Designation Date: 23-Jun-88 Marketing Approval Date:

Generic Name: Leupeptin Trade Name:

Orphan Indication: For use as an adjunct to microsurgical peripheral nerve repair.
Sponsor: Neuromuscular Adjuncts, Inc. Contact: Dr. Lawrence Hurst
Address: Stony Brook, NY Phone: (516) 444-7830 Fax: ( ) -
Status: Designated Designation Date: 18-Sep-90 Marketing Approval Date:

Generic Name: Leuprolide acetate Trade Name: Lupron Injection

Orphan Indication: Treatment of central precocious puberty.
Sponsor: Tap Pharmaceuticals, Inc. Contact: Dr. S. Albert Edwards
Address: Deerfield, IL Phone: (708) 317-5780 Fax:
Status: Designated/Approved Designation Date: 25-Jul-88 Marketing Approval Date: 16-Apr-93

Generic Name: Levocabastine HCl ophthalmic suspension 0.05% Trade Name:

Orphan Indication: Treatment of vernal keratoconjunctivitis.
Sponsor: Iolab Pharmaceuticals Contact: Susan Caballa
Address: Claremont, CA Phone: (714) 399-1278 Fax:
Status: Designated/Withdrawn Designation Date: 29-Feb-88 Marketing Approval Date:

Generic Name: Levocarnitine Trade Name: Carnitor

Orphan Indication: 1). For the treatment of secondary carnitine deficiency in valproic acid toxicity. 2). Treatment of primary and secondary carnitine deficiency of genetic
origin. 3). For the prevention of secondary carnitine deficiency in valproic acid toxicity. 4). Treatment of pediatric cardiomyopathy. 5). Treatment of manifestations of
carnitine deficiency in patients with end stage renal disease who require dialysis. 6). Treatment of zidovudine-induced mitochondrial myopathy. 7). Treatment of
manifestations of carnitine deficiency in patients with end stage renal disease who require dialysis. 8). Treatment of genetic carnitine deficiency.
Sponsor: Sigma-Tau Pharmaceuticals, Inc. Contact: Mr. A Hanzas
Address: Gaithersburg, MD Phone: (301) 670-2192 Fax: (301) 948-8627
Status: Designated Designation Date: 15-Nov-89(1), 26-Jul-84(2), 15-Nov-89(3), 22-Nov-93(4), 24-Nov-86(5), 07-Apr-97(6), 06-Sep-88(7), 28-Feb-84(8) Marketing
Approval Date: 22-Dec-88(2), 15-Dec-99(7), 10-Apr-86(8)

Generic Name: Levodopa and carbidopa Trade Name: Duodopa

Orphan Indication: Treatment of late stage Parkinson's disease.
Sponsor: Nouvel Pharma, Inc. Contact: Dr. Daniel Walker
Address: Lenexa, KS Phone: (913) 530-1780 Fax: (913) 327-7920
Status: Designated Designation Date: 18-Jan-00 Marketing Approval Date:

162
Generic Name: Levomethadyl acetate hydrochloride Trade Name: Orlaam
Orphan Indication: Treatment of heroin addicts suitable for maintenance on opiate agonists.
Sponsor: Biodevelopment Corporation Contact: Mr. John Thomas
Address: McLean, VA Phone: (703) 506-1904 Fax:
Status: Designated/Approved Designation Date: 24-Jan-84 Marketing Approval Date: 09-Jul-93

Generic Name: Lidocaine patch 5% Trade Name: Lidoderm Patch

Orphan Indication: For relief of allodynia (painful hypersensitivity), and chronic pain in post-herpetic neuralgia.
Sponsor: Teikoku Pharma USA, Inc. Contact: Ms. Gale Sheirbon
Address: Campbell, CA Phone: (408) 341-0130 Fax: (408) 615-4147
Status: Designated/Approved Designation Date: 24-Oct-95 Marketing Approval Date: 19-Mar-99

Generic Name: Liothyronine sodium injection Trade Name: Triostat

Orphan Indication: Treatment of myxedema coma/precoma.
Sponsor: SmithKline Beecham Pharmaceuticals Contact: Dr. Paula Goldberg
Address: Philadelphia, PA Phone: (215) 751-4000 Fax: (215) 751-3400
Status: Designated/Approved Designation Date: 30-Jul-90 Marketing Approval Date: 31-Dec-91

Generic Name: Lipid / DNA human cystic fibrosis gene Trade Name:
Orphan Indication: Treatment of cystic fibrosis.
Sponsor: Genzyme Corporation Contact: Ms. Ruth Turner
Address: Framingham, MA Phone: (508) 270-2285 Fax: (508) 872-9080
Status: Designated Designation Date: 08-Apr-96 Marketing Approval Date:

Generic Name: Liposomal amphotericin B Trade Name: AmBisome

Orphan Indication: 1). Treatment of visceral leishmaniasis. 2). Treatment of cryptococcal meningitis. 3). Treatment of histoplasmosis.
Sponsor: Fujisawa USA, Inc. Contact: Dr. Jerry Johnson
Address: Deerfield, IL Phone: (847) 317-8800 Fax: (847) 317-7286
Status: Designated/Approved Designation Date: 06-Dec-96(1), 10-Dec-96(2), 10-Dec-96(3) Marketing Approval Date: 11-Aug-97(1, 2)

Generic Name: Liposomal cyclosporin A Trade Name: Cyclospire

Orphan Indication: For aerosolized administration in the prevention and treatment of lung allograft rejection and pulmonary rejection events associated with bone marrow
transplantation.
Sponsor: Vernon Knight, M.D. Contact: Dr. Vernon Knight
Address: Houston, TX Phone: (713) 798-5155 Fax: (713) 798-3125
Status: Designated Designation Date: 30-Apr-98 Marketing Approval Date:

Generic Name: Liposomal N-Acetylglucosminyl-N-Acetylmuramly-L-Ala-D-isoGln-L-Ala -gylcerolidpalmitoyl Trade Name: ImmTher

Orphan Indication: 1). Treatment of Ewing's sarcoma. 2). Treatment of osteosarcoma.
Sponsor: Endorex Corp. Contact: Dr. Rickey Wilson
Address: Lake Bluff, IL Phone: (847) 573-8990 Fax: (847) 573-9285
Status: Designated Designation Date: 10-Jun-98(1, 2) Marketing Approval Date:

Generic Name: Liposomal nystatin Trade Name: Nyotran

Orphan Indication: Treatment of invasive fungal infections.
Sponsor: Aronex Pharmaceuticals, Inc. Contact: Dr. William Schary
Address: The Woodlands, TX Phone: (281) 367-1666 Fax: (281) 367-1676
Status: Designated Designation Date: 13-Jun-00 Marketing Approval Date:

Generic Name: Liposomal prostaglandin E1 injection Trade Name:

Orphan Indication: Treatment of acute respiratory distress syndrome.
Sponsor: Liposome Company, Inc. Contact: Dr. James Boyle
Address: Princeton, NJ Phone: (609) 520-6557 Fax: (609) 452-1890
Status: Designated/Withdrawn Designation Date: 25-Apr-96 Marketing Approval Date:

Generic Name: Liposomal-cis-bis-neodecanoato-trans-R,R-1,2-diaminocyclohexane-Pt (II) Trade Name:

Orphan Indication: Treatment of malignant mesothelioma.
Sponsor: Aronex Pharmaceuticals, Inc. Contact: Dr. William Schary
Address: The Woodlands, TX Phone: (281) 367-1666 Fax:
Status: Designated Designation Date: 01-Sep-99 Marketing Approval Date:

Generic Name: Liposome encapsulated recombinant interleukin-2 Trade Name:

Orphan Indication: 1). Treatment of brain and CNS tumors. 2). Treatment of cancers of the kidney and renal pelvis.
Sponsor: Biomira USA, Inc. Contact: Ms. Jillian Castrucci
Address: Cranbury, NJ Phone: (609) 655-5300 Fax: (609) 655-1755
Status: Designated Designation Date: 25-Nov-91(1), 20-Jun-94(2) Marketing Approval Date:

Generic Name: Lisofylline Trade Name:

Orphan Indication: Treatment of patients undergoing induction therapy for acute myeloid leukemia.
Sponsor: Cell Therapeutics, Inc. Contact: Ms. Jennie Allewell
Address: Seattle, WA Phone: (206) 282-7100 Fax:
Status: Designated Designation Date: 10-Jun-99 Marketing Approval Date:

Generic Name: Lodoxamide tromethamine Trade Name: Alomide Ophthalmic Solution

Orphan Indication: Treatment of vernal keratoconjunctivitis.
Sponsor: Alcon Laboratories, Inc. Contact: Dr. Robert Roehrs
Address: Fort Worth, TX Phone: (817) 551-8512 Fax:
Status: Designated/Approved Designation Date: 16-Oct-91 Marketing Approval Date: 23-Sep-93

Generic Name: Loxoribine Trade Name:

Orphan Indication: Treatment of common variable immunodeficiency.
Sponsor: R. W. Johnson Pharmaceutical Research Institute Contact: Jean O'connor
163
Address: Raritan, NJ Phone: (908) 704-5121 Fax:
Status: Designated/Withdrawn Designation Date: 24-Feb-92 Marketing Approval Date:

Generic Name: Lucinactant Trade Name: Surfaxin

Orphan Indication: 1). Treatment of meconium aspiration syndrome in newborn infants. 2). Treatment of acute respiratory distress syndrome in adults. 3). Treatment of
respiratory distress syndrome in premature infants.
Sponsor: Discovery Laboratories, Inc. Contact: Mr. Christopher Schaber
Address: Doylestown, PA Phone: (215) 340-4699 Fax: (215) 340-3940
Status: Designated Designation Date: 30-Jul-96(1), 17-Jul-95(2), 18-Oct-95(3) Marketing Approval Date:

Generic Name: Lysine acetylsalicylate injectable Trade Name:

Orphan Indication: Treatment of pain and fever secondary to sickle cell disease crisis.
Sponsor: G.D. Searle & Company Contact:
Address: , Phone: Fax:
Status: Designated/Withdrawn Designation Date: 01-Aug-89 Marketing Approval Date:

Generic Name: Mafenide acetate solution Trade Name: Sulfamylon solution

Orphan Indication: For use as an adjunctive topical antimicrobial agent to control bacterial infection when used under moist dressings over meshed autografts on excised burn
wounds.
Sponsor: Mylan Laboratories, Inc. Contact: Mr. Frank Sisto
Address: Morgantown, WV Phone: (304) 599-2595 Fax:
Status: Designated/Approved Designation Date: 18-Jul-90 Marketing Approval Date: 05-Jun-98

Generic Name: Marijuana Trade Name:

Orphan Indication: Treatment of HIV-associated wasting syndrome.
Sponsor: Multidisciplinary Association for Psychedelic Studies, Contact: Mr. Rick Doblin Inc.
Address: Belmont, MA Phone: (617) 484-8711 Fax: (617) 484-8427
Status: Designated Designation Date: 25-May-99 Marketing Approval Date:

Generic Name: MART-1 adenoviral gene therapy for malignant melanoma Trade Name:
Orphan Indication: Treatment of metastatic melanoma.
Sponsor: Genzyme Corporation Contact: Dr. Mark Hayes
Address: Framingham, MA Phone: 5082713961 Fax: 5082712692
Status: Designated Designation Date: 28-Mar-97 Marketing Approval Date:

Generic Name: Matrix metalloproteinase inhibitor Trade Name: Galardin

Orphan Indication: Treatment of corneal ulcers.
Sponsor: Glycomed, Inc Contact: Dr. Mary Treuhaft
Address: Alameda, CA Phone: (510) 523-5555 Fax:
Status: Designated Designation Date: 05-Dec-91 Marketing Approval Date:

Generic Name: Mazindol Trade Name: Sanorex

Orphan Indication: Treatment of Duchenne muscular dystrophy.
Sponsor: Collipp, Platon J. M.D. Contact: Dr. Platon Collipp
Address: Jesup, GA Phone: (912) 427-9378 Fax:
Status: Designated Designation Date: 08-Dec-86 Marketing Approval Date:

Generic Name: Mecamylamine Trade Name: Inversine

Orphan Indication: Treatment of Tourette's syndrome.
Sponsor: Layton Bioscience, Inc. Contact: Ms. Caire Lockey
Address: Sunnyvale, CA Phone: 4086161034 Fax: 4086161005
Status: Designated Designation Date: 14-Oct-98 Marketing Approval Date:

Generic Name: Mecasermin Trade Name: Myotrophin

Orphan Indication: Treatment of amyotrophic lateral sclerosis.
Sponsor: Cephalon, Inc. Contact: Mr. Paul Kirsch
Address: West Chester, PA Phone: (610) 738-6122 Fax: (610) 344-0065
Status: Designated Designation Date: 05-Aug-91 Marketing Approval Date:

Generic Name: Mecasermin Trade Name:

Orphan Indication: Treatment of growth hormone insufficency syndrome.
Sponsor: Genentech, Inc. Contact: Dr. M. David MacFarlane
Address: South San Francisco, CA Phone: (415) 225-1000 Fax: (415) 225-6000
Status: Designated Designation Date: 12-Dec-95 Marketing Approval Date:

Generic Name: Medroxyprogesterone acetate Trade Name: Hematrol

Orphan Indication: Treatment of immune thrombocytopenic purpura.
Sponsor: InKine Pharmaceutical Company, Inc. Contact: Dr. Monroe Klein
Address: Blue Bell, PA Phone: 2152836866 Fax:
Status: Designated Designation Date: 22-Feb-01 Marketing Approval Date:

Generic Name: Mefloquine HCl Trade Name: Mephaquin

Orphan Indication: 1). Prevention of chloroquine-resistant Falciparum malaria. 2). Treatment of chloroquine-resistant Falciparummalaria.
Sponsor: Mepha AG Contact: Mr. Lorne Campbell
Address: Aesch Basel, Switzerland, CH Phone: (816) 221-4442 Fax:
Status: Designated Designation Date: 22-Jul-87(1,2 ) Marketing Approval Date:

Generic Name: Mefloquine HCl Trade Name: Lariam

Orphan Indication: 1). Prophylaxis of Plasmodium falciparum malaria which is resistant to other available drugs. 2). Treatment of acute malaria due to Plasmodium
falciparum and Plasmodium vivax.
Sponsor: Hoffmann-La Roche, Inc. Contact: Ms. Jeannie-Marie Skinner
Address: Nutley, NJ Phone: (201) 235-5405 Fax:
164
Status: Designated/Approved Designation Date: 13-Apr-88(1, 2) Marketing Approval Date: 02-May-89(1, 2)

Generic Name: Megestrol acetate Trade Name: Megace

Orphan Indication: Treatment of patients with anorexia, cachexia, or significant weight loss (=/>10% of baseline body weight) and confirmed diagnosis of AIDS.
Sponsor: Bristol-Myers Squibb Pharmaceutical Research Contact: Ms. Marygayle Ritzert Institute
Address: Evansville, IN Phone: (812) 429-5584 Fax:
Status: Designated/Approved Designation Date: 13-Apr-88 Marketing Approval Date: 10-Sep-93

Generic Name: Melanoma cell vaccine Trade Name:

Orphan Indication: Treatment of invasive melanoma.
Sponsor: Morton, Donald L. M.D. Contact: Monica Batra
Address: Santa Monica, CA Phone: 3105827426 Fax: 3105827022
Status: Designated Designation Date: 13-Oct-94 Marketing Approval Date:

Generic Name: Melanoma vaccine Trade Name: Melacine

Orphan Indication: Treatment of stage III - IV melanoma.
Sponsor: Ribi ImmunoChem Research, Inc. Contact: Ms. Kathleen Tomsu
Address: Hamilton, MT Phone: (406) 363-6214 Fax: (406) 363-6129
Status: Designated Designation Date: 20-Dec-89 Marketing Approval Date:

Generic Name: Melatonin Trade Name:

Orphan Indication: Treatment of circadian rhythm sleep disorders in blind people with no light perception.
Sponsor: Sack, Robert, M.D. Contact: Dr. Robert Sack
Address: Portland, OR Phone: (503) 494-6577 Fax:
Status: Designated Designation Date: 15-Nov-93 Marketing Approval Date:

Generic Name: Melphalan Trade Name: Alkeran for Injection

Orphan Indication: 1). For use in hyperthermic regional limb perfusion to treat metastatic melanoma of the extremity. 2). Treatment of patients with multiple myeloma for whom
oral therapy is inappropriate.
Sponsor: Glaxo Wellcome Research and Development Contact: Mr. Douglas Jones
Address: Research Triangle Park, NC Phone: (919) 483-2100 Fax:
Status: Designated/Withdrawn Designation Date: 03-Mar-92(1), 24-Feb-92 Marketing Approval Date: 18-Nov-92(2)

Generic Name: Meropenem Trade Name: Merrem IV

Orphan Indication: Management of acute pulmonary exacerbations, in cystic fibrosis patients, due to respiratory tract infection with susceptible organisms.
Sponsor: Zeneca Pharmaceuticals Contact: Mr. Gerald Limp
Address: Wilmington, DE Phone: (302) 886-8017 Fax: (302) 886-2822
Status: Designated Designation Date: 27-Apr-00 Marketing Approval Date:

Generic Name: Mesna Trade Name: Mesnex

Orphan Indication: For use as a prophylactic agent in reducing the incidence of ifosfamide-induced hemorrhagic cystitis.
Sponsor: Degussa Corporation Contact: Mr. Ralph Venhaus
Address: Ridgefield Park, NJ Phone: (201) 641-6100 Fax:
Status: Designated/Approved Designation Date: 14-Nov-85 Marketing Approval Date: 30-Dec-88

Generic Name: Mesna Trade Name:

Orphan Indication: Inhibition of the urotoxic effects induced by oxazaphosphorine compounds such as cyclophosphamide.
Sponsor: Asta Medica , Inc. Contact: Ms. Roberta Tucker
Address: Tewksbury, MA Phone: (978) 851-5981 Fax: (978) 851-7346
Status: Designated Designation Date: 16-Dec-87 Marketing Approval Date:

Generic Name: Methionine / L-methionine Trade Name:

Orphan Indication: Treatment of AIDS myelopathy.
Sponsor: Di Rocco, Alessandro M.D. Contact: Dr. Alessandro Di Rocco
Address: New York, NY Phone: (212) 844-8362 Fax: (212) 844-8710
Status: Designated Designation Date: 21-Aug-96 Marketing Approval Date:

Generic Name: Methotrexate Trade Name: Rheumatrex

Orphan Indication: Treatment of juvenile rheumatoid arthritis.
Sponsor: Wyeth-Ayerst Laboratories Contact: Mr. James O'Shaughnessy
Address: Philadelphia, PA Phone: (610) 902-3761 Fax: (610) 964-5973
Status: Designated/Withdrawn Designation Date: 23-Aug-93 Marketing Approval Date:

Generic Name: Methotrexate sodium Trade Name: Methotrexate

Orphan Indication: Treatment of osteogenic sarcoma.
Sponsor: Lederle Laboratories Contact: Dr. Vern De Vries
Address: Pearl River, NY Phone: (914) 732-5000 Fax:
Status: Designated/Approved Designation Date: 21-Oct-85 Marketing Approval Date: 07-Apr-88

Generic Name: Methotrexate with laurocapram Trade Name: Methotrexate / azone

Orphan Indication: Topical treatment of mycosis fungoides.
Sponsor: Durham Pharmaceuticals LLC Contact: Ms. Lynda Sutton
Address: Durham, NC Phone: (919) 361-2286 Fax: (919) 361-2290
Status: Designated Designation Date: 15-Oct-90 Marketing Approval Date:

Generic Name: Methoxsalen Trade Name: Uvadex

Orphan Indication: For use in conjunction with the UVAR photopheresis system to treat graft versus host disease.
Sponsor: Therakos, Inc. Contact: Ms. Peggy Schwartz
Address: Exton, PA Phone: (610) 280-1021 Fax:
Status: Designated Designation Date: 14-Oct-98 Marketing Approval Date:

Generic Name: Methylnaltrexone Trade Name:

165
Orphan Indication: Treatment of chronic opioid-induced constipation unresponsive to conventional therapy.
Sponsor: University of Chicago Contact: Dr. Michael Roizen
Address: Chicago, IL Phone: (312) 702-2545 Fax:
Status: Designated/Withdrawn Designation Date: 17-Jun-96 Marketing Approval Date:

Generic Name: Metronidazole Trade Name: Metrogel

Orphan Indication: Treatment of perioral dermatitis.
Sponsor: Galderma Laboratories, Inc. Contact: Ms. Christine Shank
Address: Fort Worth, TX Phone: (817) 263-2600 Fax: (817) 263-2667
Status: Designated Designation Date: 24-Oct-91 Marketing Approval Date:

Generic Name: Metronidazole (topical) Trade Name: Flagyl

Orphan Indication: Treatment of grade III and IV, anaerobically infected, decubitus ulcers.
Sponsor: Searle Contact: Dr. Lynne Weissberger
Address: Skokie, IL Phone: (847) 982-7469 Fax: (847) 982-8090
Status: Designated/Withdrawn Designation Date: 24-Nov-87 Marketing Approval Date:

Generic Name: Metronidazole (topical) Trade Name: Metrogel

Orphan Indication: Treatment of acne rosacea.
Sponsor: Galderma Laboratories, Inc. Contact: Ms. Christine Shank
Address: Fort Worth, TX Phone: (817) 263-2600 Fax: (817) 263-2667
Status: Designated/Approved Designation Date: 22-Oct-87 Marketing Approval Date: 22-Nov-88

Generic Name: Microbubble contrast agent Trade Name: Filmix Neurosonographic Contrast Agent
Orphan Indication: Intraoperative aid in the identification and localization of intracranial tumors.
Sponsor: Cav-Con, Inc. Contact: Dr. Joseph D'Arrigo
Address: Farmington, CT Phone: (860) 673-0507 Fax:
Status: Designated Designation Date: 16-Nov-90 Marketing Approval Date:

Generic Name: Midodrine HCl Trade Name: Amatine

Orphan Indication: Treatment of patients with symptomatic orthostatic hypotension.
Sponsor: Schier Ridgewood F.K.A. (Roberts Contact: Mr. Drew Karlan Pharmaceutical Corp.)
Address: Eatontown, NJ Phone: 8008282088 Fax:
Status: Designated/Approved Designation Date: 05-Dec-96 Marketing Approval Date: 06-Sep-96

Generic Name: Minocycline HCl Trade Name: Minocin Intravenous

Orphan Indication: Treatment of chronic malignant pleural effusion.
Sponsor: Lederle Laboratories Division Contact: Dr. Vern Devries
Address: Pearl River, NY Phone: (914) 732-5000 Fax:
Status: Designated/Withdrawn Designation Date: 19-Jun-92 Marketing Approval Date:

Generic Name: Mitoguazone Trade Name: Zyrkamine

Orphan Indication: Treatment of diffuse non-Hodgkin's lymphoma, including AIDS-related diffuse non-Hodgkin's lymphoma.
Sponsor: ILEX Oncology, Inc. Contact: Mr. Edward Martinez
Address: San Antonio, TX Phone: (210) 949-8270 Fax: (210) 949-8282
Status: Designated Designation Date: 18-Mar-94 Marketing Approval Date:

Generic Name: Mitolactol Trade Name:

Orphan Indication: 1). As adjuvant therapy in the treatment of primary brain tumors. 2). Treatment of recurrent invasive or metastatic squamous carcinoma of the cervix.
Sponsor: Biopharmaceutics, Inc. Contact: Dr. Stewart Ehrreich
Address: Bellport, NY Phone: (941) 561-2110 Fax: (941) 561-2009
Status: Designated Designation Date: 12-Jul-95(1), 23-Jan-89(2) Marketing Approval Date:

Generic Name: Mitomycin-C Trade Name:

Orphan Indication: Treatment of refractory glaucoma as an adjunct to ab externo glaucoma surgery.
Sponsor: IOP Inc. Contact: Mr. Jason Malecka
Address: Costa Mesa, CA Phone: (714) 549-1185 Fax: (714) 549-0557
Status: Designated Designation Date: 20-Aug-93 Marketing Approval Date:

Generic Name: Mitoxantrone Trade Name: Novantrone

Orphan Indication: 1). Treatment of progressive-relapsing multiple sclerosis. 2). Treatment of secondary-progressive multiple sclerosis. 3). Treatment of hormone refractory
prostate cancer.
Sponsor: Immunex Corporation Contact: Mr. Mark Gauthier
Address: Seattle, WA Phone: (206) 389-4066 Fax:
Status: Designated/Approved Designation Date: 13-Aug-99(1,2 ), 21-Aug-96(3) Marketing Approval Date: 13-Oct-00(1, 2), 13-Nov-96(3)

Generic Name: Mitoxantrone HCl Trade Name: Novantrone

Orphan Indication: Treatment of acute myelogenous leukemia, also referred to as acute nonlymphocytic leukemia.
Sponsor: Lederle Laboratories Contact: Dr. Vern DeVries
Address: Pearl River, NY Phone: (914) 732-5000 Fax:
Status: Designated/Approved Designation Date: 13-Jul-87 Marketing Approval Date: 23-Dec-87

Generic Name: MN14 monoclonal antibody to carcinoembryonic antigen Trade Name: Cea-Cide
Orphan Indication: 1). Treatment of pancreatic cancer. 2). For the treatment of small cell lung cancer.
Sponsor: Immunomedics, Inc. Contact: Dr. Joseph Presslitz
Address: Morris Plains, NJ Phone: (973) 605-8200 Fax: (973) 605-8282
Status: Designated Designation Date: 24-Nov-98(1), 18-Sep-98(2) Marketing Approval Date:

Generic Name: Modafinil Trade Name: Provigil

Orphan Indication: Treatment of excessive daytime sleepiness in narcolepsy.
Sponsor: Cephalon, Inc. Contact: Mr. Paul Kirsch
Address: West Chester, PA Phone: (610) 738-6122 Fax: (610) 344-0065
166
Status: Designated/Approved Designation Date: 15-Mar-93 Marketing Approval Date: 24-Dec-98

Generic Name: Molgramostim Trade Name: Leucomax

Orphan Indication: 1). Treatment of aplastic anemia. 2). Treatment of AIDS patients with neutropenia due to the disease, AZTor ganciclovir.
Sponsor: Schering Corporation Contact: Dr. Alexander Giaquinto
Address: Kenilworth, NJ Phone: (201) 298-4000 Fax:
Status: Designated/Withdrawn Designation Date: 25-Sep-89(1), 24-Jan-89(2) Marketing Approval Date:

Generic Name: Monoclonal Ab(murine) anti-idiotype melanoma-associated antigen Trade Name: Melimmune
Orphan Indication: Treatment of invasive cutaneous melanoma.
Sponsor: IDEC Pharmaceuticals Corporation Contact: Ms. Alice Wei
Address: San Diego, CA Phone: (619) 458-8920 Fax: (619) 458-8450
Status: Designated/Withdrawn Designation Date: 19-Sep-94 Marketing Approval Date:

Generic Name: Monoclonal antibodies (murine or human) to B-cell lymphoma Trade Name:
Orphan Indication: Treatment of B-cell lymphoma.
Sponsor: IDEC Pharmaceuticals Corporation Contact: Ms. Alice Wei
Address: San Diego, CA Phone: (619) 550-8500 Fax: (619) 550-8750
Status: Designated/Withdrawn Designation Date: 06-May-86 Marketing Approval Date:

Generic Name: Monoclonal antibodies PM-81 and AML-2-23 Trade Name:

Orphan Indication: For the exogenous depletion of CD14 and CD15 positive acute myeloid leukemic bone marrow cells from patients undergoing bone marrow
transplantation.
Sponsor: Medarex, Inc. Contact: Dr. Randall Curnow
Address: Annandale, NJ Phone: (908) 713-1903 Fax: (908) 713-6002
Status: Designated Designation Date: 12-Mar-90 Marketing Approval Date:

Generic Name: Monoclonal antibody 17-1a Trade Name: Panorex

Orphan Indication: Treatment of pancreatic cancer.
Sponsor: Centocor, Inc. Contact: Mr. Martin Page
Address: Malvern, PA Phone: (215) 889-4786 Fax:
Status: Designated/Withdrawn Designation Date: 04-Apr-88 Marketing Approval Date:

Generic Name: Monoclonal antibody for immunization against lupus nephritis Trade Name:
Orphan Indication: Treatment of lupus nephritis.
Sponsor: VivoRx Autoimmune, Inc. Contact: Mr. Mitchall Clark
Address: Santa Monica, CA Phone: (310) 264-7768 Fax:
Status: Designated Designation Date: 07-Jan-93 Marketing Approval Date:

Generic Name: Monoclonal antibody PM-81 Trade Name:

Orphan Indication: Adjunctive treatment of acute myelogenous leukemia.
Sponsor: Medarex, Inc. Contact: Dr. Randall Curnow
Address: Annandale, NJ Phone: (908) 713-6001 Fax: (908) 713-6002
Status: Designated Designation Date: 27-Jun-91 Marketing Approval Date:

Generic Name: Monoclonal antibody to cytomegalovirus (human) Trade Name:

Orphan Indication: 1). Prophylaxis of cytomegalovirus disease in patients undergoing solid organ transplantation. 2). Treatment of cytomegalovirus retinitis in patients with
AIDS.
Sponsor: Protein Design Labs, Inc. Contact: Dr. Ellen Wallace
Address: Mountain View, CA Phone: (415) 903-3950 Fax: (415) 903-3730
Status: Designated/Withdrawn Designation Date: 13-Sep-91 (1), 15-Nov-91 (2) Marketing Approval Date:

Generic Name: Monoclonal antibody to hepatitis B virus (human) Trade Name:

Orphan Indication: Prophylaxis of hepatitis B reinfection in patients undergoing liver transplantation secondary to end-stage chronic hepatitis B infection.
Sponsor: Protein Design Labs, Inc. Contact: Dr. Gene Mason
Address: Fremont, CA Phone: (510) 574-1553 Fax: (510) 574-1500
Status: Designated/Withdrawn Designation Date: 17-Jun-91 Marketing Approval Date:

Generic Name: Monoclonal antibody-B43.13 Trade Name: Ovarex MAb-B43.13

Orphan Indication: Treatment of epithelial ovarian cancer.
Sponsor: AltaRex US Corp. Contact: Ms. Marlene Booth
Address: Waltham, MA Phone: (781) 622-3790 Fax: (781) 672-0142
Status: Designated Designation Date: 25-Nov-96 Marketing Approval Date:

Generic Name: Monoclonal antiendotoxin antibody XMMEn-0e5 Trade Name:

Orphan Indication: Treatment of patients with gram-negative sepsis which has progressed to shock.
Sponsor: Pfizer, Inc. Contact: Dr. John Wolleben
Address: New York, NY Phone: (212) 573-3414 Fax:
Status: Designated/Withdrawn Designation Date: 04-Nov-85 Marketing Approval Date:

Generic Name: Monolaurin Trade Name: Glylorin

Orphan Indication: Treatment of congenital primary ichthyosis.
Sponsor: Glaxo Wellcome Inc. Contact: Ms. Janice McKellar
Address: Research Triangle Park, NC Phone: (919) 483-3030 Fax: (919) 483-3012
Status: Designated Designation Date: 29-Apr-93 Marketing Approval Date:

Generic Name: Monooctanoin Trade Name: Moctanin

Orphan Indication: For dissolution of cholesterol gallstones retained in the common bile duct.
Sponsor: Ethitek Pharmaceuticals, Inc. Contact: Dr. Alan Raff
Address: Skokie, IL Phone: (708) 966-2200 Fax:
Status: Designated/Approved Designation Date: 30-May-84 Marketing Approval Date: 31-Oct-85

167
Generic Name: Morphine sulfate concentrate (preservative free) Trade Name: Infumorph
Orphan Indication: For use in microinfusion devices for intraspinal administration in the treatment of intractable chronic pain.
Sponsor: Elkins-Sinn, Inc. Contact: Ms. Thelma Hilibrand
Address: Cherry Hill, NJ Phone: (609) 424-3700 Fax:
Status: Designated/Approved Designation Date: 12-Jul-90 Marketing Approval Date: 19-Jul-91

Generic Name: MTC-DOX for Injection Trade Name:

Orphan Indication: Treatment of hepatocellular carcinoma
Sponsor: FeRx Incorporated Contact: Ms. Caryn Peterson
Address: San Diego, CA Phone: 8586777788 Fax: 8586779898
Status: Designated Designation Date: 03-Jan-01 Marketing Approval Date:

Generic Name: Mucoid exopolysaccharide Pseudomonas hyperimmune globulin Trade Name: MEP IGIV
Orphan Indication: 1). Treatment of pulmonary infections due to Pseudomonas aeruginosa in patients with cystic fibrosis. 2). Prevention of pulmonary infections due to
Pseudomonas aeruginosa in patients with cystic fibrosis.
Sponsor: North American Biologicals, Inc. Contact: Dr. Lewis Pollack
Address: Rockville, MD Phone: (301) 770-3099 Fax: ( ) -
Status: Designated/Withdrawn Designation Date: 09-Jan-91(1), 07-Nov-90(2) Marketing Approval Date:

Generic Name: Multi-vitamin infusion (neonatal formula) Trade Name:

Orphan Indication: For establishment and maintenance of total parenteral nutrition in very low birth weight infants.
Sponsor: Astra Pharmaceuticals, L.P. Contact: Mr. Paul Alessandro
Address: Wayne, PA Phone: (508) 836-8404 Fax: (508) 366-7406
Status: Designated Designation Date: 12-Dec-89 Marketing Approval Date:

Generic Name: Murine MAb (Lym-1) and Iodine 131-I radiolabeled murine MAb (Lym-1) to human B-cell lymphoma Trade Name: Oncolym
Orphan Indication: Treatment of B-cell non-Hodgkin's lymphoma.
Sponsor: Berlex Laboratories Contact: Mr. Anthony Bourdakis
Address: Richmond, CA Phone: (510) 669-4469 Fax: (510) 262-7878
Status: Designated Designation Date: 27-Nov-98 Marketing Approval Date:

Generic Name: Murine MAb to polymorphic epithelial mucin, human milk fat globule 1 Trade Name: Theragyn
Orphan Indication: Adjuvant treatment of ovarian cancer.
Sponsor: Antisoma plc Contact: Ms. Nancy Smerkanich
Address: London W5 3QR, UK Phone: 6109138450 Fax: 6109138457
Status: Designated Designation Date: 22-Mar-99 Marketing Approval Date:

Generic Name: Mycobacterium avium sensitin RS-10 Trade Name:

Orphan Indication: For use in the diagnosis of invasive Mycobacterium avium disease in immunocompetent individuals.
Sponsor: Statens Seruminstitut Contact: Dr. C. Fordham Von Reyn
Address: Denmark, Phone: (603) 650-8840 Fax:
Status: Designated Designation Date: 11-Oct-95 Marketing Approval Date:

Generic Name: Myelin Trade Name:

Orphan Indication: Treatment of multiple sclerosis.
Sponsor: AutoImmune, Inc. Contact: Dr. Malcolm Fletcher
Address: Lexington, MA Phone: (617) 860-0710 Fax: (617) 860-0705
Status: Designated/Withdrawn Designation Date: 27-Jun-91 Marketing Approval Date:

Generic Name: N-acetyl-procainamide Trade Name:

Orphan Indication: Prevention of life-threatening ventricular arrhythmias in patients with documented procainamide-induced lupus.
Sponsor: NAPA of the Bahamas Contact: Dr. Barry Scherr
Address: Dubuque, IA Phone: (319) 557-9684 Fax:
Status: Designated Designation Date: 10-Dec-96 Marketing Approval Date:

Generic Name: N-acetylcysteinate Trade Name: Nacystelyn Dry Powder Inhaler

Orphan Indication: For the management of cystic fibrosis
Sponsor: Galephar Pharmaceutical Research, Inc. Contact: Ms. Mimi Brennan
Address: Juncos, PR Phone: 7877130340 Fax: 7877130344
Status: Designated Designation Date: 27-Dec-00 Marketing Approval Date:

Generic Name: N-acetylgalactosamine-4-sulfatase, recombinant human Trade Name:

Orphan Indication: Treatment of mucopolysaccharidosis Type VI (Maroteaux-Lamy syndrome).
Sponsor: BioMarin Pharmaceutical, Inc. Contact: Mr. Matthew Patterson
Address: Novato, CA Phone: (415) 884-6720 Fax: (415) 382-7889
Status: Designated Designation Date: 17-Feb-99 Marketing Approval Date:

Generic Name: N-acetylprocainamide Trade Name: Napa

Orphan Indication: To lower the defibrillation energy requirement sufficiently to allow automatic implantable cardioverter defibrillator therapy in those patients who could
otherwise not use the device.
Sponsor: Medco Research, Inc. Contact: Dr. Sam Teichman
Address: Los Angeles, CA Phone: (213) 966-4155 Fax:
Status: Designated/Withdrawn Designation Date: 23-Mar-90 Marketing Approval Date:

Generic Name: Nafarelin acetate Trade Name: Synarel Nasal Solution

Orphan Indication: Treatment of central precocious puberty.
Sponsor: Syntex (USA), Inc. Contact: Dr. Michael Perry
Address: Palo Alto, CA Phone: (415) 354-7453 Fax:
Status: Designated/Approved Designation Date: 20-Jul-88 Marketing Approval Date: 26-Feb-92

Generic Name: Naltrexone HCl Trade Name: Trexan

Orphan Indication: For blockade of the pharmacological effects of exogenously administered opioids as an adjunct to the maintenance of the opioid-free state in detoxified
168
formerly opioid-dependent individuals.
Sponsor: DuPont Pharmaceuticals Contact: Mr. Edward Adams
Address: Wilmington, DE Phone: (302) 992-5094 Fax:
Status: Designated/Approved Designation Date: 11-Mar-85 Marketing Approval Date: 30-Nov-84

Generic Name: Natural human lymphoblastoid interferon-alpha Trade Name:

Orphan Indication: 1). Treatment of papillomavirus warts in the oral cavity of HIV positive patients. 2). Treatment of Behcet's disease.
Sponsor: Amarillo Biosciences. Inc. Contact: Dr. Phillip Fox
Address: Amarillo, TX Phone: 301-320-8200 Fax: 301-320-3884
Status: Designated Designation Date: 10-Aug-00 (1), 18-Jan-00 (2) Marketing Approval Date:

Generic Name: NDROGE Trade Name:

Orphan Indication: Treatment of postanoxic intention myoclonus.
Sponsor: WATSON Laboratories, Inc. Contact: Ms. Joyce Anne Del Gaudio
Address: Copiaque, NY Phone: (516) 842-8383 Fax: (516) 842-8630
Status: Designated Designation Date: 01-Nov-84 Marketing Approval Date:

Generic Name: Nebacumab Trade Name: Centoxin

Orphan Indication: Treatment of patients with gram-negative bacteremia which has progressed to endotoxin shock.
Sponsor: Centocor, Inc. Contact: Mr. Martin Page
Address: Malvern, PA Phone: (610) 651-6000 Fax:
Status: Designated Designation Date: 01-Oct-86 Marketing Approval Date:

Generic Name: Neurotrophin-1 Trade Name:

Orphan Indication: Treatment of motor neuron disease/amyotrophic lateral sclerosis.
Sponsor: Ericsson, Arthur Dale, M.D. Contact: Dr. Arthur Ericsson
Address: Houston, TX Phone: (713) 790-9590 Fax:
Status: Designated Designation Date: 13-Sep-94 Marketing Approval Date:

Generic Name: NG-29 Trade Name: Somatrel

Orphan Indication: Diagnostic measure of the capacity of the pituitary gland to release growth hormone.
Sponsor: Ferring Laboratories, Inc. Contact: Mr. Isidoro Nudelman
Address: Suffern, NY Phone: (888) 793-6367 Fax:
Status: Designated Designation Date: 08-Aug-89 Marketing Approval Date:

Generic Name: Nifedipine Trade Name:

Orphan Indication: Treatment of interstitial cystitis.
Sponsor: Fleischmann, Jonathan M.D. Contact: Dr. John Fleischmann
Address: Cleveland, OH Phone: (216) 459-4257 Fax:
Status: Designated Designation Date: 13-Jun-91 Marketing Approval Date:

Generic Name: Nitazoxanide Trade Name: Cryptaz

Orphan Indication: Treatment of immunocompromised patients with cryptosporidiosis.
Sponsor: Romark Laboratories, L.C. Contact: Mr. Marc Ayers
Address: Tampa, FL Phone: (813) 282-8544 Fax: (813) 282-4910
Status: Designated Designation Date: 12-Dec-96 Marketing Approval Date:

Generic Name: Nitisinone Trade Name: Orfadin

Orphan Indication: Treatment of tyrosinemia type 1.
Sponsor: Swedish Orphan AB Contact: Dr. Ronald Leonardi
Address: Sweden, SE Phone: (858) 586-0751 Fax: (858) 586-1108
Status: Designated Designation Date: 16-May-95 Marketing Approval Date:

Generic Name: Nitric oxide Trade Name:

Orphan Indication: Treatment of acute respiratory distress syndrome in adults.
Sponsor: INO Therapeutics, Inc. Contact: Mrs. Priya Jambhekar
Address: Clinton, NJ Phone: (908) 604-7722 Fax:
Status: Designated Designation Date: 10-Jul-95 Marketing Approval Date:

Generic Name: Nitric oxide Trade Name: INOmax

Orphan Indication: Treatment of persistent pulmonary hypertension in the newborn.
Sponsor: INO Therapeutics, Inc. Contact: Mr. Richard Williams
Address: Clinton, NJ Phone: (908) 238-6622 Fax: (908) 238-0779
Status: Designated/Approved Designation Date: 22-Jun-93 Marketing Approval Date: 23-Dec-99

Generic Name: Nitroprusside Trade Name:

Orphan Indication: Treatment and prevention of cerebral vasospasm following subarachnoid hemorrhage.
Sponsor: Thomas, MD, Jeffrey Evan Contact: Dr. Jeffrey Thomas
Address: Philadelphia, PA Phone: (215) 928-7000 Fax: (215) 928-7007
Status: Designated Designation Date: 21-Feb-01 Marketing Approval Date:

Generic Name: Novel Acting Thrombolytic (NAT) Trade Name:

Orphan Indication: Treatment of peripheral arterial occlusion (PAO)
Sponsor: Amgen, Inc. Contact: Ms. Paula Adams
Address: Thousand Oaks, CA Phone: 8054476658 Fax: 8054997232
Status: Designated Designation Date: 26-Jan-01 Marketing Approval Date:

Generic Name: Octreotide Trade Name: Sandostatin LAR

Orphan Indication: 1). Treatment of severe diarrhea and flushing associated with malignant carcinoid tumors. 2). Treatment of diarrhea associated with vasoactive intestinal
peptide tumors (VIPoma). 3). Treatment of acromegaly.
Sponsor: Novartis Pharmaceuticals Corporation Contact: Ms. Eileen Ryan
Address: East Hanover, NJ Phone: (973) 781-7661 Fax: (973) 781-6325
169
Status: Designated/Approved Designation Date: 24-Aug-98(1,2, 3 ) Marketing Approval Date: 25-Nov-98(1,2, 3 )

Generic Name: Ofloxacin Trade Name: Ocuflox Ophthalmic Solution

Orphan Indication: Treatment of bacterial corneal ulcers.
Sponsor: Allergan, Inc. Contact: Ms. Elizabeth Bancroft
Address: Irvine, CA Phone: (714) 752-4500 Fax:
Status: Designated/Approved Designation Date: 18-Apr-91 Marketing Approval Date: 22-May-96

Generic Name: OM 401 Trade Name: Drepanol

Orphan Indication: Prophylactic treatment of sickle cell disease.
Sponsor: Omex International, Inc. Contact: Mr. S. Murphy Murthy
Address: Houston, TX Phone: (713) 438-6057 Fax:
Status: Designated Designation Date: 24-Oct-91 Marketing Approval Date:

Generic Name: Omega-3 (n-3) polyunsaturated fatty acid with all double bonds in the cis configuration Trade Name:
Orphan Indication: Prevention of organ graft rejection.
Sponsor: Research Triangle Pharmaceuticals Contact: Mr. Peter Vaccari
Address: Durham, NC Phone: (301) 309-1260 Fax: ( ) -
Status: Designated Designation Date: 22-Nov-95 Marketing Approval Date:

Generic Name: Omega-3 (n-3) polyunsaturated fatty acids Trade Name: Omacor
Orphan Indication: Treatment of IgA nephropathy.
Sponsor: Pronova Biocare, AS Contact: Dr. Ron Leonardi
Address: Norway, Phone: 8585860751 Fax: 8585861108
Status: Designated Designation Date: 04-May-00 Marketing Approval Date:

Generic Name: Oncorad Ov103 Trade Name:

Orphan Indication: Treatment of ovarian cancer.
Sponsor: Cytogen Corporation Contact: Mr. Michael Tripani
Address: Princeton, NJ Phone: (609) 987-6450 Fax:
Status: Designated Designation Date: 24-Apr-90 Marketing Approval Date:

Generic Name: Oprelvekin Trade Name: Neumega

Orphan Indication: Prevention of severe chemotherapy-induced thrombocytopenia.
Sponsor: Genetics Institute, Inc. Contact: Ms. Ingride Bartinique
Address: Cambridge, MA Phone: (617) 498-8652 Fax: (617) 498-8876
Status: Designated/Approved Designation Date: 17-Dec-96 Marketing Approval Date: 25-Nov-97

Generic Name: Orgotein for injection Trade Name:

Orphan Indication: Treatment of familial amyotrophic lateral sclerosis associated with a mutation of the gene (on chromosome 21q) for copper, zinc superoxide dismutase.
Sponsor: Oxis International, Inc. Contact: Dr. Timothy Rodell
Address: Portland, OR Phone: (503) 283-3911 Fax: (503) 283-4058
Status: Designated/Withdrawn Designation Date: 22-Dec-94 Marketing Approval Date:

Generic Name: Oxaliplatin Trade Name:

Orphan Indication: Treatment of ovarian cancer.
Sponsor: Debio Pharm S.A. Contact: Mr. N. Peter Kostopulos
Address: Lausanne 9 Switzerland, CH Phone: (703) 751-7777 Fax:
Status: Designated Designation Date: 06-Oct-92 Marketing Approval Date:

Generic Name: Oxandrolone Trade Name: Oxandrin

Orphan Indication: Treatment of patients with Duchenne's muscular dystrophy and Becker's muscular dystrophy.
Sponsor: Bio-Technology General Corp. Contact: Ms. Annmarie Petraglia
Address: Iselin, NJ Phone: (908) 603-7911 Fax: (908) 632-8844
Status: Designated Designation Date: 22-Apr-97 Marketing Approval Date:

Generic Name: Oxandrolone Trade Name: Oxandrin, Hepandrin

Orphan Indication: 1). Treatment of short stature associated with Turner's syndrome. 2). Adjunctive therapy for AIDS patients suffering from HIV-wasting syndrome. 3).
Treatment of constitutional delay of growth and puberty. 4). Treatment of moderate/severe acute alcoholic hepatitis in the presence of moderate protein calorie
malnutrition.
Sponsor: Bio-Technology General Corp. Contact: Ms. Annmarie Petraglia
Address: Iselin, NJ Phone: (703) 603-7911 Fax: (908) 632-8844
Status: Designated/Withdrawn Designation Date: 05-Jul-90(1), 06-Sep-91(2), 05-Oct-90(3), 18-Mar-94(4) Marketing Approval Date:

Generic Name: Oxybate Trade Name: Xyrem

Orphan Indication: Treatment of narcolepsy.
Sponsor: Orphan Medical, Inc. Contact: Dr. Dayton Reardan
Address: Minnetonka, MN Phone: (612) 513-6969 Fax: (612) 541-9209
Status: Designated Designation Date: 07-Nov-94 Marketing Approval Date:

Generic Name: Oxymorphone Trade Name: Numorphan H.P.

Orphan Indication: For relief of severe intractable pain in narcotic-tolerant patients.
Sponsor: DuPont Merck Pharmaceutical Company Contact: Mr. Edward Adams
Address: Wilmington, DE Phone: (302) 992-5094 Fax:
Status: Designated Designation Date: 19-Mar-85 Marketing Approval Date:

Generic Name: Oxypurinol Trade Name:

Orphan Indication: Treatment of hyperuricemia in patients intolerant to allopurinol.
Sponsor: ILEX Oncology, Inc. Contact: Mr. Edward Martinez
Address: San Antonio, TX Phone: (210) 949-8270 Fax: (210) 949-8282
Status: Designated Designation Date: 09-Nov-98 Marketing Approval Date:
170
Generic Name: P1, P4-Di(uridine 5'-tetraphosphate), tetrasodium salt Trade Name:
Orphan Indication: Treatment of cystic fibrosis.
Sponsor: Inspire Pharmaceuticals, Inc. Contact: Dr. Donald Kellerman
Address: Durham, NC Phone: (919) 941-9777 Fax: (919) 941-9797
Status: Designated/Withdrawn Designation Date: 27-Oct-98 Marketing Approval Date:

Generic Name: p1-(uridine 5'-)-p4-(2'-deoxycytidine 5'-) tetraphosphate, tetrasodium salt Trade Name:
Orphan Indication: For the treatment of cystic fibrosis
Sponsor: Inspire Pharmaceuticals, Inc. Contact: Dr. Donald Kellerman
Address: Durham, NC Phone: 9199419777 Fax: 9194748507
Status: Designated Designation Date: 07-Mar-01 Marketing Approval Date:

Generic Name: Paclitaxel Trade Name: Paxene

Orphan Indication: Treatment of AIDS-related Kaposi's sarcoma.
Sponsor: Baker Norton Pharmaceuticals, Inc. Contact: Dr. John Howes
Address: Miami, FL Phone: (305) 575-6326 Fax:
Status: Designated Designation Date: 15-Apr-97 Marketing Approval Date:

Generic Name: Paclitaxel Trade Name: Taxol

Orphan Indication: Treatment of AIDS-related Kaposi's sarcoma.
Sponsor: Bristol-Myers Squibb Pharmaceutical Research Contact: Ms. Cheryl Anderson Institute
Address: Wallingford, CT Phone: (203) 284-6083 Fax: (203) 284-7630
Status: Designated/Approved Designation Date: 25-Mar-97 Marketing Approval Date: 04-Aug-97

Generic Name: Papain, trypsin, and chymotrypsin Trade Name: Wobe-Mugos

Orphan Indication: Treatment of multiple myeloma.
Sponsor: Marlyn Nutraceuticals, Inc. Contact: Mr. Edward Allera
Address: Scottsdale, AZ Phone: (202) 887-4080 Fax:
Status: Designated Designation Date: 21-Dec-98 Marketing Approval Date:

Generic Name: Papaverine topical gel Trade Name:

Orphan Indication: Treatment of sexual dysfunction in spinal cord injury patients.
Sponsor: Pharmedic Company Contact: Dr. Ragab El-Rashidy
Address: Wheeling, IL Phone: (708) 215-6603 Fax:
Status: Designated/Withdrawn Designation Date: 06-Feb-92 Marketing Approval Date:

Generic Name: Parovirus B19 (recombinant VP1 and VP2; S.frugiperda cells) vaccine Trade Name: MEDI-491
Orphan Indication: Prevention of transient aplastic crisis in patients with sickle cell anemia.
Sponsor: MedImmune, Inc. Contact: Mr. Bogdan Dziurzynski
Address: Gaithersburg, MD Phone: (301) 527-4261 Fax:
Status: Designated Designation Date: 07-May-99 Marketing Approval Date:

Generic Name: Patul-end Trade Name:

Orphan Indication: Treatment of patulous eustachian tube.
Sponsor: Ear Foundation Contact: Dr. Joseph DiBartolomeo
Address: Santa Barbara, CA Phone: (805) 563-1111 Fax: (805) 563-2277
Status: Designated Designation Date: 18-Feb-97 Marketing Approval Date:

Generic Name: PEG-glucocerebrosidase Trade Name: Lysodase

Orphan Indication: For use as chronic enzyme replacement therapy in patients with Gaucher's disease who are deficient in glucocerebrosidase.
Sponsor: National Institute of Mental Health, NIH Contact: Dr. Edward Ginns
Address: Bethesda, MD Phone: (908) 980-4500 Fax: (908) 980-5911
Status: Designated Designation Date: 09-Dec-92 Marketing Approval Date:

Generic Name: PEG-interleukin-2 Trade Name:

Orphan Indication: Treatment of primary immunodeficiencies associated with T-cell defects.
Sponsor: Chiron Corporation Contact: Dr. Gwen Fyfe
Address: Emeryville, CA Phone: (510) 655-8730 Fax:
Status: Designated Designation Date: 01-Feb-90 Marketing Approval Date:

Generic Name: Pegademase bovine Trade Name: Adagen

Orphan Indication: For enzyme replacement therapy for ADA deficiency in patients with severe combined immunodeficiency.
Sponsor: Enzon, Inc. Contact: Mr. Brian Bollwage
Address: Piscataway, NJ Phone: (908) 980-4500 Fax: (908) 980-5911
Status: Designated/Approved Designation Date: 29-May-84 Marketing Approval Date: 21-Mar-90

Generic Name: Pegaspargase Trade Name: Oncaspar

Orphan Indication: Treatment of acute lymphocytic leukemia.
Sponsor: Enzon, Inc. Contact: Mr. Brian Bollwage
Address: Piscataway, NJ Phone: (908) 980-4500 Fax: (908) 980-5911
Status: Designated/Approved Designation Date: 20-Oct-89 Marketing Approval Date: 01-Feb-94

Generic Name: Peginterferon alfa-2a Trade Name: PEGASYS

Orphan Indication: 1). Treatment of renal cell carcinoma. 2). Treatment of chronic myelogenous leukemia.
Sponsor: Hoffman-La Roche Inc. Contact: Ms. Loni da Silva
Address: Nutley, NJ Phone: (973) 562-3674 Fax: (973) 562-3700
Status: Designated Designation Date: 13-Jul-98(1), 30-Sep-99(2) Marketing Approval Date:

Generic Name: Pegvisomant Trade Name: Somavert

Orphan Indication: Treatment of acromegaly.
Sponsor: Sensus Corporation Contact: Dr. Robert Davis
171
Address: Austin, TX Phone: (512) 476-0270 Fax: (512) 476-3327
Status: Designated Designation Date: 24-Jun-97 Marketing Approval Date:

Generic Name: Pegylated arginine deiminase Trade Name: Melanocid, Hepacid

Orphan Indication: 1). Treatment of invasive malignant melanoma. 2). Treatment of hepatocellular carcinoma.
Sponsor: Phoenix Pharmacologics, Inc. Contact: Dr. John Bomalaski
Address: Exton, PA Phone: (610) 688-6056 Fax: (610) 524-6384
Status: Designated Designation Date: 12-Apr-99(1), 26-Mar-99(2) Marketing Approval Date:

Generic Name: Pegylated recombinant human megakaryocyte growth and development factor Trade Name: MEGAGEN
Orphan Indication: For reducing the period of thrombocytopenia in patients undergoing hematopoietic stem cell transplantation.
Sponsor: Amgen, Inc. Contact: Mr. Ralph Smalling
Address: Thousand Oaks, CA Phone: (805) 447-3058 Fax: (805) 447-3058
Status: Designated Designation Date: 20-Oct-97 Marketing Approval Date:

Generic Name: Peldesine Trade Name:

Orphan Indication: Treatment of cutaneous T-cell lymphoma.
Sponsor: BioCryst Pharmaceuticals, Inc. Contact: Mr. Lance Lang
Address: Birmingham, AL Phone: (205) 444-4635 Fax: (205) 444-4640
Status: Designated Designation Date: 05-Oct-93 Marketing Approval Date:

Generic Name: Pentamidine isethionate Trade Name: Pentam 300

Orphan Indication: Treatment of Pneumocystis carinii pneumonia.
Sponsor: Fujisawa USA, Inc. Contact: Dr. Jerry Johnson
Address: Deerfield, IL Phone: (847) 317-8800 Fax: (847) 317-7286
Status: Designated/Approved Designation Date: 28-Feb-84 Marketing Approval Date: 16-Oct-84

Generic Name: Pentamidine isethionate Trade Name:

Orphan Indication: Treatment of Pneumocystis carinii pneumonia.
Sponsor: Aventis Behring L.L.C. Contact: Ms. Carol Marchione
Address: King of Prussia, PA Phone: 6108784026 Fax:
Status: Designated Designation Date: 29-Oct-84 Marketing Approval Date:

Generic Name: Pentamidine isethionate Trade Name: Nebupent

Orphan Indication: Prevention of Pneumocystis carinii pneumonia in patients at high risk of developing this disease.
Sponsor: Fujisawa USA, Inc. Contact: Dr. Jerry Johnson
Address: Deerfield, IL Phone: (847) 317-8800 Fax: (847) 317-7286
Status: Designated/Approved Designation Date: 12-Jan-88 Marketing Approval Date: 15-Jun-89

Generic Name: Pentamidine isethionate (inhalation) Trade Name: Pneumopent

Orphan Indication: Prevention of Pneumocystis carinii pneumonia in patients at high risk of developing this disease.
Sponsor: Fisons Corporation Contact: Ms. Susan Raymond
Address: Rochester, NY Phone: (716) 475-9000 Fax:
Status: Designated Designation Date: 05-Oct-87 Marketing Approval Date:

Generic Name: Pentastarch Trade Name: Pentaspan

Orphan Indication: As an adjunct in leukapheresis to improve the harvesting and increase the yield of leukocytes by centrifugal means.
Sponsor: Du Pont Pharmaceuticals Contact: Mr. Edward Adams
Address: Wilmington, DE Phone: (302) 992-5094 Fax:
Status: Designated/Approved Designation Date: 28-Aug-85 Marketing Approval Date: 19-May-87

Generic Name: Pentosan polysulfate sodium Trade Name: Elmiron

Orphan Indication: Treatment of interstitial cystitis.
Sponsor: Alza Corporation Contact: Ms. Mirka Dunn
Address: Palo Alto, CA Phone: (650) 564-2524 Fax: (650) 564-2581
Status: Designated/Approved Designation Date: 07-Aug-85 Marketing Approval Date: 26-Sep-96

Generic Name: Pentostatin Trade Name: Nipent

Orphan Indication: 1). Treatment of patients with chronic lymphocytic leukemia. 2). Treatment of cutaneous T-cell lymphoma. 3). Treatment of peripheral T-cell lymphomas.
4). Treatment of hairy cell leukemia. ( inj)
Sponsor: SuperGen, Inc. Contact: Dr. Sam Boddapati
Address: Dublin, CA Phone: 9255600100 Fax: 9255516472
Status: Designated Designation Date: 29-Jan-91(1), 27-Mar-98(2), 24-Nov-99(3), 10-Sep-87(4) Marketing Approval Date: 11-Oct-91(4)

Generic Name: Perfosfamide Trade Name: Pergamid

Orphan Indication: For use in the ex-vivo treatment of autologous bone marrow and subsequent reinfusion in patients with acute myelogenous leukemia, also referred to as
acute nonlymphocytic leukemia.
Sponsor: Scios Nova, Inc. Contact: Ellen Martin
Address: Mountain View, CA Phone: (415) 966-1550 Fax:
Status: Designated/Withdrawn Designation Date: 04-Dec-89 Marketing Approval Date:

Generic Name: Pergolide Trade Name: Permax

Orphan Indication: Treatment of Tourette's syndrome.
Sponsor: Sallee, Floyd R. M.D., Ph.D. Contact: Dr. Floyd Sallee
Address: Charleston, SC Phone: (803) 792-5443 Fax: (803) 792-7352
Status: Designated Designation Date: 20-Nov-97 Marketing Approval Date:

Generic Name: Phenylacetate Trade Name:

Orphan Indication: For use as an adjunct to surgery, radiation therapy and chemotherapy for the treatment of patients with primary or recurrent malignant glioma.
Sponsor: Elan Pharmaceutical Research Corp. Contact: Mr. Roger Wiley
Address: Gainesville, GA Phone: (770) 534-8239 Fax: (770) 534-8247
Status: Designated Designation Date: 06-Mar-98 Marketing Approval Date:
172
Generic Name: Phenylalanine ammonia-lyase Trade Name: Phenylase
Orphan Indication: Treatment of hyperphenylalaninemia.
Sponsor: Ibex Technologies, Inc. Contact: Dr. Jan Charles Horrow
Address: Canada H4P 1P7, CA Phone: 6104074200 Fax: 6104474270
Status: Designated Designation Date: 08-Mar-95 Marketing Approval Date:

Generic Name: Phenylbutyrate Trade Name:

Orphan Indication: Treatment of acute promyelocytic leukemia.
Sponsor: Elan Corporation Contact: Mr. Roger Wiley
Address: Gainesville, GA Phone: (770) 538-6360 Fax: (770) 531-0835
Status: Designated Designation Date: 19-Jan-00 Marketing Approval Date:

Generic Name: Phosphocysteamine Trade Name:

Orphan Indication: Treatment of cystinosis.
Sponsor: Medea Research Laboratories Contact: Ms. Olga Lockhart
Address: Port Jefferson, NY Phone: (516) 331-7718 Fax:
Status: Designated Designation Date: 12-Sep-88 Marketing Approval Date:

Generic Name: Physostigmine salicylate Trade Name: Antilirium

Orphan Indication: Treatment of Friedreich's and other inherited ataxias.
Sponsor: Forest Pharmaceuticals, Inc. Contact: Dr. Michael Rosen
Address: New York, NY Phone: (212) 421-7850 Fax:
Status: Designated Designation Date: 16-Jan-85 Marketing Approval Date:

Generic Name: Pilocarpine Trade Name: Salagen

Orphan Indication: 1). Treatment of xerostomia induced by radiation therapy for head and neck cancer. 2). Treatment of xerostomia and keratoconjunctivitis sicca in
Sjogren's syndrome patients.
Sponsor: MGI Pharma, Inc. Contact: Dr. Jo Gustafson
Address: Bloomington, MN Phone: (612) 346-4722 Fax: (612) 346-4800
Status: Designated/Approved Designation Date: 24-Sep-90(1), 28-Feb-92(2) Marketing Approval Date: 22-Mar-94(1), 11-Feb-98(2)

Generic Name: Piracetam Trade Name: Nootropil

Orphan Indication: Treatment of myoclonus.
Sponsor: UCB Pharma, Inc. Contact: Ms. Kim Christopher
Address: Smyrna, GA Phone: (770) 437-5645 Fax: (770) 437-5507
Status: Designated Designation Date: 02-Oct-87 Marketing Approval Date:

Generic Name: Piritrexim isethionate Trade Name:

Orphan Indication: Treatment of infections caused by Pneumocystis carinii, Toxoplasma gondii, and Mycobacterium avium-intracellulare.
Sponsor: Burroughs Wellcome Company Contact: Dr. Michael Dalton
Address: Research Triangle Park, NC Phone: (919) 315-4453 Fax:
Status: Designated/Withdrawn Designation Date: 13-Jun-88 Marketing Approval Date:

Generic Name: Polifeprosan 20 with carmustine Trade Name: Gliadel

Orphan Indication: Treatment of malignant glioma.
Sponsor: Guilford Pharmaceuticals, Inc. Contact: Mr. Ross Laderman
Address: Baltimore, MD Phone: (410) 631-6306 Fax: (410) 631-6338
Status: Designated/Approved Designation Date: 13-Dec-89 Marketing Approval Date: 23-Sep-96

Generic Name: Poloxamer 188 Trade Name: Florcor

Orphan Indication: 1). Treatment of severe burns requiring hospitalization. 2). Treatment of sickle cell crisis.
Sponsor: CytRx Corporation Contact: Ms. Margaret Valnoski
Address: Norcross, GA Phone: (609) 799-7580 Fax: (609) 799-4148
Status: Designated Designation Date: 22-Feb-90(1), 27-Jun-89(1) Marketing Approval Date:

Generic Name: Poloxamer 331 Trade Name: Protox

Orphan Indication: Initial therapy of toxoplasmosis in patients with AIDS.
Sponsor: CytRx Corporation Contact: Dr. R. Martin Emanuele
Address: Norcross, GA Phone: (770) 453-0107 Fax: (770) 448-3357
Status: Designated Designation Date: 21-Mar-91 Marketing Approval Date:

Generic Name: Poly I: poly C12U Trade Name: Ampligen

Orphan Indication: 1). Treatment of renal cell carcinoma. 2). Treatment of chronic fatigue syndrome. & invasive metastatic melanoma (stage IIb, III, IV).
3). Treatment of AIDS.
Sponsor: Hemispherx Biopharma, Inc. Contact: Dr. David Strayer
Address: Philadelphia, PA Phone: (215) 988-0080 Fax: (215) 988-1739
Status: Designated Designation Date: 20-May-91(1), 09-Dec-93 (2), 19-Jul-88(3) Marketing Approval Date:

Generic Name: Poly-ICLC Trade Name:

Orphan Indication: Treatment of primary brain tumors.
Sponsor: Salazar, Andres M. M.D. and Levy, Hilton B. Ph.D. Contact: Dr. Andres Salazar
Address: Washington, DC Phone: (202) 782-6345 Fax:
Status: Designated Designation Date: 17-Mar-97 Marketing Approval Date:

Generic Name: Polyethylene glycol (PEG)-uricase Trade Name:

Orphan Indication: To control the clinical consequences of hyperuricemia in patients with severe gout in whom conventional therapy is contraindicated or has been ineffective.
Sponsor: Bio-Technology General Corporation Contact: Briti Kundu
Address: Iselin, NJ Phone: (732) 632-8800 Fax: (732) 321-1705
Status: Designated Designation Date: 21-Feb-01 Marketing Approval Date:

Generic Name: Polyethylene glycol-modified uricase Trade Name: Zurase

173
Orphan Indication: 1). Treatment of tumor lysis syndrome in cancer patients undergoing chemotherapy. 2). Prophylaxis of hyperuricemia in cancer patients prone to develop
tumor lysis syndrome during chemotherapy.
Sponsor: Phoenix Pharmacologics, Inc. Contact: Dr. John Bomalaski
Address: Exton, PA Phone: (610) 524-7710 Fax: (610) 524-6384
Status: Designated Designation Date: 21-Dec-98(1), 14-Sep-99 (2) Marketing Approval Date:

Generic Name: Polymeric oxygen Trade Name:

Orphan Indication: Treatment of sickle cell anemia.
Sponsor: Capmed USA Contact: Mr. James Caplan
Address: Bryn Mawr, PA Phone: (610) 394-1172 Fax: (610) 394-1175
Status: Designated Designation Date: 25-Mar-92 Marketing Approval Date:

Generic Name: Porcine fetal neural dopaminergic cells and/or precursors aseptically prepared and coated with anti-MHC-1 Ab for intracerebral implantation Trade Name:
NeuroCell-PD
Orphan Indication: 1). Treatment of Hoehn and Yahr stage 4 and 5 Parkinson's disease. 2). Treatment of Hoehn and Yahr stage 4 and 5 Parkinson's disease.
Sponsor: Diacrin, Inc. Contact: Mr. E. Michael Egan
Address: Cambridge, MA Phone: (617) 242-9100 Fax: (617) 242-0070
Status: Designated Designation Date: 17-Dec-96 (1,2 ) Marketing Approval Date:

Generic Name: Porcine fetal neural gabaergic cells and/or precursors aseptically prepared and coated with anti-MHC-1 Ab for intracerebral implantation Trade Name:
NeuroCell-HD
Orphan Indication: Treatment of Huntington's disease.
Sponsor: Diacrin, Inc. Contact: Mr. E. Michael Egan
Address: Cambridge, MA Phone: (617) 242-9100 Fax: (617) 242-0070
Status: Designated Designation Date: 10-Dec-96 Marketing Approval Date:

Generic Name: Porcine fetal neural gabaergic cells and/or precursors aseptically prepared for intracerebral implantation for Huntington's disease. Trade Name: NeuroCell-HD
Orphan Indication: Treatment of Huntington's disease.
Sponsor: Diacrin, Inc. Contact: Mr. E. Michael Egan
Address: Cambridge, MA Phone: (617) 242-9100 Fax: (617) 242-0070
Status: Designated Designation Date: 10-Dec-96 Marketing Approval Date:

Generic Name: Porcine Sertoli cells aseptically prepared for intracerebral co-implantation with fetal neural tissue Trade Name: N-Graft
Orphan Indication: Treatment of Hoehn and Yahr stage four and five Parkinson's disease.
Sponsor: Titan Pharmaceuticals, Inc. Contact: Dr. Richard Allen
Address: Somerville, NJ Phone: (908) 429-9880 Fax: (908) 429-9096
Status: Designated Designation Date: 24-Jun-97 Marketing Approval Date:

Generic Name: Porfimer sodium Trade Name: Photofrin

Orphan Indication: For the photodynamic therapy of patients with primary or recurrent obstructing (either partially or completely) esophageal carcinoma.
Sponsor: QLT Phototherapeutics, Inc. Contact: Mr. Louis Gura
Address: Pearl River, NY Phone: (914) 732-5000 Fax:
Status: Designated/Approved Designation Date: 06-Jun-89 Marketing Approval Date: 27-Dec-95

Generic Name: Porfimer sodium Trade Name: Photofrin

Orphan Indication: For the photodynamic therapy of patients with transitional cell carcinoma in situ of the urinary bladder.
Sponsor: QLT Phototherapeutics, Inc. Contact: Mr. Louis Gura
Address: Pearl River, NY Phone: (914) 732-5000 Fax:
Status: Designated Designation Date: 15-Nov-89 Marketing Approval Date:

Generic Name: Porfiromycin Trade Name: Promycin

Orphan Indication: 1). Treatment of head and neck cancer. 2). Treatment of cervical cancer.
Sponsor: Boehringer Ingelheim Pharmaceuticals, Inc. Contact: Dr. David Brill
Address: Ridgefield, CT Phone: 2037984340 Fax: 2037916262
Status: Designated Designation Date: 19-Sep-95(1), 13-Mar-97(2) Marketing Approval Date:

Generic Name: Potassium citrate Trade Name: Urocit-K

Orphan Indication: 1). Prevention of calcium renal stones in patients with hypocitraturia. 2). For avoidance of the complication of calcium stone formation in patients with
uric lithiasis. 3). Prevention of uric acid nephrolithiasis.
Sponsor: University of Texas Health Science Center at Dallas Contact: Dr. Charles Y.C. Pak
Address: Dallas, TX Phone: (214) 688-2100 Fax:
Status: Designated/Approved Designation Date: 16-Sep-85(1), 29-May-84(2), 01-Nov-84(3) Marketing Approval Date: 30-Aug-85(1, 3),

Generic Name: Potassium citrate and citric acid Trade Name:

Orphan Indication: For the dissolution and control of uric acid and cysteine calculi in the urinary tract.
Sponsor: Willen Drug Company Contact:
Address: , Phone: Fax:
Status: Designated/Withdrawn Designation Date: 14-Feb-86 Marketing Approval Date:

Generic Name: Pr-122 (redox-phenytoin) Trade Name:

Orphan Indication: For the emergency rescue treatment of status epilepticus, grand mal type.
Sponsor: Pharmos Contact: John Howes
Address: Alachua, FL Phone: (904) 462-1210 Fax:
Status: Designated/Withdrawn Designation Date: 05-Jul-90 Marketing Approval Date:

Generic Name: PR-225 (redox-acyclovir) Trade Name:

Orphan Indication: Treatment of herpes simplex encephalitis in individuals afflicted with AIDS.
Sponsor: Pharmos Contact: John Howes
Address: Alachua, FL Phone: (904) 462-1210 Fax:
Status: Designated/Withdrawn Designation Date: 29-May-90 Marketing Approval Date:

Generic Name: PR-239 (redox penicillin G) Trade Name:

174
Orphan Indication: Treatment of AIDS associated neurosyphilis.
Sponsor: Pharmos Contact: John Howes
Address: Alachua, FL Phone: (904) 462-1210 Fax:
Status: Designated/Withdrawn Designation Date: 23-May-90 Marketing Approval Date:

Generic Name: Pr-320 (molecusol-carbamazepine) Trade Name:

Orphan Indication: For the emergency rescue treatment of status epilepticus, grand mal type.
Sponsor: Pharmos Contact: John Howes
Address: Alachua, FL Phone: (904) 462-1210 Fax:
Status: Designated/Withdrawn Designation Date: 20-Jul-90 Marketing Approval Date:

Generic Name: Pramiracetam Sulfate Trade Name:

Orphan Indication: For the management of cognitive dysfunction and enhancement of antidepressant activity associated with electroconvulsive therapy.
Sponsor: Cambridge Neuroscience, Inc. Contact: Lisa Burns
Address: Cambridge, MA Phone: (919) 361-2286 Fax:
Status: Designated/Withdrawn Designation Date: 04-Nov-91 Marketing Approval Date:

Generic Name: Praziquantel Trade Name:

Orphan Indication: Treatment of neurocysticercosis.
Sponsor: EM Pharmaceuticals, Inc. Contact:
Address: , Phone: Fax:
Status: Designated/Withdrawn Designation Date: 18-Apr-88 Marketing Approval Date:

Generic Name: Prednimustine Trade Name: Sterecyt

Orphan Indication: Treatment of malignant non-Hodgkin's lymphomas.
Sponsor: Pharmacia Inc. Contact: Dr. Daniel Mannix
Address: Columbus, OH Phone: (614) 764-8100 Fax: (614) 761-8102
Status: Designated/Withdrawn Designation Date: 17-Jun-85 Marketing Approval Date:

Generic Name: Primaquine phosphate Trade Name:

Orphan Indication: For use in combination with clindamycin hydrochloride in the treatment of Pneumocystis carinii pneumonia associated with AIDS.
Sponsor: Sanofi Winthrop, Inc. Contact: Dr. Gregory Torre
Address: New York, NY Phone: (212) 551-4000 Fax:
Status: Designated Designation Date: 23-Jul-93 Marketing Approval Date:

Generic Name: Progesterone Trade Name:

Orphan Indication: Establishment and maintenance of pregnancy in women undergoing in vitro fertilization or embryo transfer procedures.
Sponsor: Watson Laboratories, Inc. Contact: Mr. Ron Lapre
Address: Corona, CA Phone: (909) 270-1400 Fax: (909) 270-1096
Status: Designated Designation Date: 22-Dec-94 Marketing Approval Date:

Generic Name: Propamidine isethionate 0.1% ophthalmic solution Trade Name: Brolene
Orphan Indication: Treatment of acanthamoeba keratitis.
Sponsor: Bausch & Lomb Contact: Ms. Carol Rose
Address: Tampa, FL Phone: (813) 975-7775 Fax: (813) 975-7770
Status: Designated/Withdrawn Designation Date: 10-Mar-88 Marketing Approval Date:

Generic Name: Prostaglandin E1 enol ester (AS-013) Trade Name:

Orphan Indication: Treatment of Fontaine Stage IV chronic critical limb ischemia.
Sponsor: Alpha Therapeutic Corp. Contact: Ms. M. Sue Preston
Address: Los Angeles, CA Phone: 3232277580 Fax:
Status: Designated Designation Date: 12-Jun-98 Marketing Approval Date:

Generic Name: Prostaglandin E1 in lipid emulsion Trade Name: Lipo-PGE1

Orphan Indication: Treatment of ischemic ulceration of the lower limbs due to peripheral arterial disease.
Sponsor: Alpha Therapeutic Corporation Contact: Ms. M. Sue Preston
Address: Los Angeles, CA Phone: (213) 227-7580 Fax:
Status: Designated/Withdrawn Designation Date: 10-Sep-96 Marketing Approval Date:

Generic Name: Protein C concentrate Trade Name: Protein C Concentrate (human) Vapor Heated, Immuno
Orphan Indication: 1). For use in the prevention and treatment of purpura fulminans in meningococcemia. 2). For replacement therapy in patients with congenital or
acquired protein C deficiency for the prevention and treatment of warfarin-induced skin necrosis during oral anticoagulation.
Sponsor: Immuno Clinical Research Corp. Contact: Ms. Marianne Kunschak
Address: New York, NY Phone: (212) 759-3875 Fax: (212) 751-4971
Status: Designated/Withdrawn Designation Date: 22-Apr-93(1), 19-Jun-92(2) Marketing Approval Date:

Generic Name: Protein C concentrate Trade Name: Protein C Concentrate (human) Vapor Heated, Immuno
Orphan Indication: For replacement therapy in congenital protein C deficiency for the prevention and treatment of thrombosis, pulmonary emboli, and purpura fulminans.
Sponsor: Baxter Healthcare Corporation Contact: Ms. Arlene Vidor
Address: Glendale, CA Phone: (818) 507-5523 Fax: (818) 507-5596
Status: Designated Designation Date: 23-Jun-92 Marketing Approval Date:

Generic Name: Protirelin Trade Name:

Orphan Indication: Prevention of infant respiratory distress syndrome associated with prematurity.
Sponsor: UCB Pharma, Inc. Contact: Dr. Diane Vandeputte
Address: Smyrna, GA Phone: (770) 437-5559 Fax: (770) 437-5507
Status: Designated/Withdrawn Designation Date: 24-Aug-93 Marketing Approval Date:

Generic Name: Protirelin injection Trade Name:

Orphan Indication: Treatment of amyothrophic lateral sclerosis.
Sponsor: Abbott Laboratories Contact:
Address: , Phone: Fax:
175
Status: Designated/Withdrawn Designation Date: 10-Jan-85 Marketing Approval Date:

Generic Name: Pulmonary surfactant replacement Trade Name:

Orphan Indication: Prevention and treatment of infant respiratory distress syndrome.
Sponsor: Scios Nova, Inc. Contact: Ms. Karen Harder
Address: Mountain View, CA Phone: (415) 966-1550 Fax: (415) 968-2438
Status: Designated/Withdrawn Designation Date: 05-Dec-88 Marketing Approval Date:

Generic Name: Pulmonary surfactant replacement, porcine Trade Name: Curosurf

Orphan Indication: For the treatment and prevention of respiratory distress syndrome in premature infants.
Sponsor: Dey Laboratories Contact: Ms. Peggy Berry
Address: Napa, CA Phone: (707) 224-3200 Fax: 7072241364
Status: Designated/Approved Designation Date: 02-Aug-93 Marketing Approval Date: 18-Nov-99

Generic Name: Purified extract of Pseudomonas aeruginosa Trade Name: ImmuDyn

Orphan Indication: Treatment of immune thrombocytopenia purpura where it is required to increase platelet counts.
Sponsor: DynaGen, Inc. Contact: Mr. Peter Mione
Address: Cambridge, MA Phone: (617) 491-2527 Fax: (617) 354-3902
Status: Designated Designation Date: 22-Sep-97 Marketing Approval Date:

Generic Name: Purified type II collagen Trade Name: Colloral

Orphan Indication: Treatment of juvenile rheumatoid arthritis.
Sponsor: AutoImmune, Inc. Contact: Mr. J Bernardy
Address: Lexington, MA Phone: (781) 860-0710 Fax: (781) 860-0705
Status: Designated Designation Date: 09-Feb-95 Marketing Approval Date:

Generic Name: pVGI.1(VEGF2) Trade Name:

Orphan Indication: Treatment of thromboangiitis obliterans.
Sponsor: Vascular Genetics, Inc. Contact: Mr. Peter Vaccari
Address: Durham, NC Phone: (301) 309-1260 Fax: (301) 309-8470
Status: Designated Designation Date: 09-Nov-99 Marketing Approval Date:

Generic Name: Pyruvate Trade Name:

Orphan Indication: Treatment of interstitial lung disease.
Sponsor: Cellular Sciences, Inc Contact: Dr. Ronald Amen
Address: Flemington, NJ Phone: 7146399839 Fax: 7146396250
Status: Designated Designation Date: 21-Feb-01 Marketing Approval Date:

Generic Name: Quinacrine hydrochloride Trade Name:

Orphan Indication: For prevention of recurrence of pneumothorax in patients at high risk of recurrence.
Sponsor: Lyphomed, Inc. Contact:
Address: , Phone: Fax:
Status: Designated/Withdrawn Designation Date: 17-Oct-84 Marketing Approval Date:

Generic Name: Radiolabeled monoclonal antibody to CD22 antigen on B-cells Trade Name: LymphoCIDE
Orphan Indication: Treatment of non-Hodgkin's lymphoma.
Sponsor: Immunomedics, Inc. Contact: Dr. Joseph Presslitz
Address: Morris Plains, NJ Phone: (973) 605-8200 Fax: (973) 605-8282
Status: Designated Designation Date: 13-Jul-98 Marketing Approval Date:

Generic Name: Recombinant bactericidal/permeability-increasing protein Trade Name: Neuprex

Orphan Indication: Treatment of severe meningococcal disease.
Sponsor: Xoma Corporation Contact: Mr. Dan Cafaro
Address: Berkeley, CA Phone: (510) 644-1170 Fax: (510) 644-0539
Status: Designated Designation Date: 22-Jun-98 Marketing Approval Date:

Generic Name: Recombinant glycine2-human glucagon-like peptide-2 Trade Name:

Orphan Indication: Treatment of short bowel syndrome.
Sponsor: NPS Allelix Corp. Contact: Mr. James Howard-Tripp
Address: L4V 1V7 Canada, CA Phone: (609) 860-6640 Fax: (609) 860-7995
Status: Designated Designation Date: 29-Jun-00 Marketing Approval Date:

Generic Name: Recombinant human acid alpha-glucosidase Trade Name:

Orphan Indication: Treatment of glycogen storage disease type II.
Sponsor: Genzyme Corporation Contact: Dr. Alexander Kuta
Address: Framingham, MA Phone: 5082702138 Fax: 5082712692
Status: Designated Designation Date: 19-Aug-97 Marketing Approval Date:

Generic Name: Recombinant Human Alpha-Fetoprotein (rhAFP) Trade Name:

Orphan Indication: Treatment of myasthenia gravis
Sponsor: Atlantic Biopharmaceuticals, Inc. Contact: Dr. Ann Rose
Address: Cambridge, MA Phone: 7037576947 Fax:
Status: Designated Designation Date: 22-Feb-01 Marketing Approval Date:

Generic Name: Recombinant human antithrombin III Trade Name:

Orphan Indication: Treatment of antithrombin III dependent heparin resistance requiring anticoagulation.
Sponsor: AT III LLC Contact: Dr. Alex Kuta
Address: Framingham, MA Phone: (508) 270-2138 Fax:
Status: Designated Designation Date: 06-Apr-00 Marketing Approval Date:

Generic Name: Recombinant human C1-esterase inhibitor Trade Name:

176
Orphan Indication: 1). Treatment of (acute attacks of) angioedema caused by hereditary or acquired C1-esterase inhibitor deficiency. 2). Prophylactic treatment of
angioedema caused by hereditary or acquired C1-esterase inhibitor deficiency.
Sponsor: Pharming N.V. Contact: Mr. Charles Morin
Address: Belgium, BE Phone: (415) 957-0101 Fax: (415) 957-5905
Status: Designated Designation Date: 23-Feb-99(1, 2) Marketing Approval Date:

Generic Name: Recombinant human CD4 immunoglobulin G Trade Name:

Orphan Indication: Treatment of AIDS resulting from infection with HIV-1.
Sponsor: Genentech, Inc. Contact: Dr. M. David MacFarlane
Address: South San Francisco, CA Phone: (415) 225-1000 Fax: (415) 225-6000
Status: Designated Designation Date: 30-Aug-90 Marketing Approval Date:

Generic Name: Recombinant human Clara Cell 10kDa protein Trade Name:
Orphan Indication: Prevention of neonatal bronchopulmonary dysplasia in premature neonates with respiratory distress syndrome.
Sponsor: Claragen, Inc. Contact: Mr. Mark Zimmer
Address: College Park, MD Phone: (301) 405-8593 Fax: (301) 405-4989
Status: Designated Designation Date: 13-Jul-98 Marketing Approval Date:

Generic Name: Recombinant human gelsolin Trade Name:

Orphan Indication: 1). Treatment of the respiratory symptoms of cystic fibrosis. 2). Treatment of acute and chronic respiratory symptoms of bronchiectasis.
Sponsor: Biogen, Inc. Contact: Dr. Sylvie Gregoire
Address: Cambridge, MA Phone: (617) 679-2631 Fax: (617) 679-3170
Status: Designated Designation Date: 12-Jan-94(1), 06-Mar-95(2) Marketing Approval Date:

Generic Name: Recombinant human highly phosphorylated acid alpha-glucosidase Trade Name: TBD
Orphan Indication: For enzyme replacement therapy in patients with all subtypes of glycogen storage disease type II (GSDII, Pompe Disease)
Sponsor: Novazyme Pharmaceuticals, Inc. Contact: Mr. Anthony McKinney
Address: Oklahoma City, OK Phone: 4052718144 Fax: 4052718154
Status: Designated Designation Date: 20-Sep-00 Marketing Approval Date:

Generic Name: Recombinant human insulin-like growth factor 1 Trade Name: IGF-1
Orphan Indication: Treatment of growth hormone receptor deficiency.
Sponsor: Pharmacia & Upjohn Contact: Mr. Robert Paarlberg
Address: Kalamazoo, MI Phone: (616) 833-0646 Fax: (616) 833-8237
Status: Designated/Withdrawn Designation Date: 07-Jun-95 Marketing Approval Date:

Generic Name: Recombinant human insulin-like growth factor 1 Trade Name: IGF-1
Orphan Indication: Treatment of antibody-mediated growth hormone resistance in patients with isolated growth hormone deficiency Ia.
Sponsor: Pharmacia & Upjohn Contact: Mr. Robert Paarlberg
Address: Kalamazoo, MI Phone: (616) 833-0646 Fax: (616) 833-8237
Status: Designated/Withdrawn Designation Date: 07-Jun-95 Marketing Approval Date:

Generic Name: Recombinant human insulin-like growth factor-I Trade Name:

Orphan Indication: Treatment of post-poliomyelitis syndrome.
Sponsor: Cephalon, Inc. Contact: Mr. Paul Kirsch
Address: West Chester, PA Phone: (610) 738-6122 Fax: (610) 344-0065
Status: Designated Designation Date: 13-Oct-95 Marketing Approval Date:

Generic Name: Recombinant human insulin-like growth factor-I Trade Name: PV802
Orphan Indication: Treatment of short-bowel syndrome as a result of resection of the small bowel or as a result of congenital dysfunction of the intestines.
Sponsor: GroPep Pty Ltd. Contact: Dr. J. Dane Rigden
Address: Australia, AU Phone: (603) 429-0688 Fax: (617)687-0384
Status: Designated Designation Date: 16-Feb-00 Marketing Approval Date:

Generic Name: Recombinant human insulin-like growth factor-I / insulin-like growth factor binding protein-3 Trade Name:
Orphan Indication: Treatment of major burns that require hospitalization.
Sponsor: Celtrix Pharmaceuticals, Inc. Contact: Dr. Malcolm McKay
Address: Santa Clara, CA Phone: (408) 573-6237 Fax: (408) 573-6228
Status: Designated Designation Date: 15-Jun-99 Marketing Approval Date:

Generic Name: Recombinant human interleukin-12 Trade Name:

Orphan Indication: Treatment of renal cell carcinoma.
Sponsor: Genetics Institute, Inc. Contact: Dr. Frederick Gates
Address: Cambridge, MA Phone: (617) 498-8618 Fax: (617) 498-8618
Status: Designated Designation Date: 20-Oct-97 Marketing Approval Date:

Generic Name: Recombinant human keratinocyte growth factor Trade Name:

Orphan Indication: Reducing the incidence and severity of radiation-induced xerostomia.
Sponsor: Amgen Inc. Contact: Ms. Zubeda Kara
Address: Thousand Oaks, CA Phone: (805) 447-6157 Fax: (805) 498-1425
Status: Designated Designation Date: 20-Dec-99 Marketing Approval Date:

Generic Name: Recombinant human luteinizing hormone Trade Name: LHadi

Orphan Indication: For use in association with recombinant human follicle stimulating hormone for the treatment of women with chronic anovulation due to hypogonadotropic
hypogonadism.
Sponsor: Serono Laboratories, Inc. Contact: Ms. Pamela Williamson Joyce
Address: Norwell, MA Phone: 7816812298 Fax: (781) 871-6754
Status: Designated Designation Date: 07-Oct-94 Marketing Approval Date:

Generic Name: Recombinant human nerve growth factor Trade Name:

Orphan Indication: Treatment of HIV-associated sensory neuropathy.
Sponsor: Genentech, Inc. Contact: Dr. M. David MacFarlane
177
Address: South San Francisco, CA Phone: (650) 225-1557 Fax: (415) 225-1397
Status: Designated Designation Date: 16-Apr-99 Marketing Approval Date:

Generic Name: Recombinant human relaxin Trade Name:

Orphan Indication: Treatment of progressive systemic sclerosis.
Sponsor: Connetics Corporation Contact: Ms. M. Sue Preston
Address: Palo Alto, CA Phone: 6508432800 Fax: (650) 843-2899
Status: Designated Designation Date: 03-Nov-95 Marketing Approval Date:

Generic Name: Recombinant human superoxide dismutase Trade Name: Oxsodrol

Orphan Indication: Prevention of bronchopulmonary dysplasia in premature neonates weighing less than 1500 grams.
Sponsor: Bio-Technology General Corp. Contact: Ms. Briti Kundu
Address: Iselin, NJ Phone: 7326328800 Fax: 7326328844
Status: Designated Designation Date: 18-Apr-91 Marketing Approval Date:

Generic Name: Recombinant human thrombopoietin Trade Name:

Orphan Indication: For use in accelerating platelet recovery in patients undergoing hematopoietic stem cell transplantation.
Sponsor: Genentech, Inc. Contact: Dr. Robert Garnick
Address: South San Francisco, CA Phone: (650) 225-1520 Fax: (650) 225-6000
Status: Designated Designation Date: 29-Sep-97 Marketing Approval Date:

Generic Name: Recombinant humanized MAb 5c8 Trade Name:

Orphan Indication: 1). Prevention of rejection of solid organ transplants. 2). Prevention and treatment of Factor VIII/Factor IX inhibitors in patients with hemophilia A or B.
3). Prevention of rejection of pancreatic islet cell transplants. 4). Treatment of immune thrombocytopenic purpura. 5). Treatment of systemic lupus erythematosus.
Sponsor: Biogen, Inc. Contact: Dr. Burt Adelman
Address: Cambridge, MA Phone: (617) 679-2775 Fax:
Status: Designated Designation Date: 22-Mar-99(1, 3), 14-Oct-98(2), 03-Feb-98(4), 18-Feb-98 (5) Marketing Approval Date:

Generic Name: Recombinant methionyl brain-derived neurotrophic factor Trade Name:

Orphan Indication: Treatment of amyotrophic lateral sclerosis.
Sponsor: Amgen, Inc. Contact: Armine Balian
Address: Thousand Oaks, CA Phone: (805) 447-4320 Fax: (805) 499-7232
Status: Designated Designation Date: 28-Nov-94 Marketing Approval Date:

Generic Name: Recombinant methionyl human stem cell factor Trade Name:
Orphan Indication: Treatment of primary bone marrow failure.
Sponsor: Amgen, Inc. Contact: Mr. Neal Birkett
Address: Thousand Oaks, CA Phone: (805) 447-3416 Fax: 8054801330
Status: Designated Designation Date: 22-Nov-95 Marketing Approval Date:

Generic Name: Recombinant retroviral vector - glucocerebrosidase Trade Name:

Orphan Indication: For use as enzyme replacement therapy for patients with types I, II, or III Gaucher disease.
Sponsor: Genetic Therapy, Inc. Contact: Mr. Jeffrey Carey
Address: Gaithersburg, MD Phone: (301) 208-2451 Fax: (301) 948-0097
Status: Designated Designation Date: 15-Nov-93 Marketing Approval Date:

Generic Name: Recombinant secretory leucocyte protease inhibitor Trade Name:

Orphan Indication: 1). Treatment of congenital alpha-1 antitrypsin deficiency. 2). Treatment of cystic fibrosis.
Sponsor: Amgen Inc. Contact: Ms. Clara Li Yee
Address: Boulder, CO Phone: (303) 938-6200 Fax:
Status: Designated Designation Date: 29-Mar-91(1,2 ) Marketing Approval Date:

Generic Name: Recombinant soluble human CD4 Trade Name: Receptin

Orphan Indication: Treatment of acquired immunodeficiency syndrome.
Sponsor: Biogen, Inc. Contact: Dr. Burt Adelman
Address: Cambridge, MA Phone: (617) 679-2000 Fax: (617) 679-2617
Status: Designated/Withdrawn Designation Date: 20-Nov-89 Marketing Approval Date:

Generic Name: Recombinant soluble human CD4 (rCD4) Trade Name:

Orphan Indication: Treatment of AIDS in patients infected with HIV virus.
Sponsor: Genentech, Inc. Contact: Dr. M. David MacFarlane
Address: South San Francisco, CA Phone: (415) 225-1000 Fax: (415) 225-6000
Status: Designated Designation Date: 23-Mar-89 Marketing Approval Date:

Generic Name: Recombinant urate oxidase Trade Name:

Orphan Indication: 1). Prophylaxis of chemotherapy-induced hyperuricemia. 2). Treatment of malignancy-associated or chemotherapy-induced hyperuricemia.
Sponsor: Sanofi-Synthelabo Research Contact: Ms. Danette Cathcart
Address: Malvern, PA Phone: (610) 889-6398 Fax: (610) 889-6993
Status: Designated Designation Date: 11-Oct-00(1,2 ) Marketing Approval Date:

Generic Name: Recombinant vaccinia (human papillomavirus) Trade Name: TA-HPV

Orphan Indication: Treatment of cervical cancer.
Sponsor: Cantab Pharmaceuticals Research Limited Contact: Dr. James Kenimer
Address: Great Britain, GB Phone: (703) 739-5695 Fax: (703) 548-7457
Status: Designated Designation Date: 24-Aug-94 Marketing Approval Date:

Generic Name: Reduced L-glutathione Trade Name: Cachexon

Orphan Indication: Treatment of AIDS-associated cachexia.
Sponsor: Telluride Pharmaceutical Corporation Contact: Dr. Thomas Kenyhercz
Address: Hillsborough, NJ Phone: (908) 359-1375 Fax: (908) 359-8236
Status: Designated Designation Date: 14-Feb-94 Marketing Approval Date:

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Generic Name: Remacemide Trade Name: Ecovia
Orphan Indication: Treatment of Huntington's disease.
Sponsor: AstraZeneca LP Contact: Dr. Paul Nemeth
Address: Wayne, PA Phone: (610) 578-8355 Fax: (610) 695-1829
Status: Designated Designation Date: 06-Mar-00 Marketing Approval Date:

Generic Name: Respiratory syncytial virus immune globulin (Human) Trade Name: Respigam
Orphan Indication: Prophylaxis of respiratory syncytial virus lower respiratory tract infections in infants and young children at high risk of RSV disease.
Sponsor: MedImmune & Massachussetts Public Health Biologics Contact: Mr. Bogdan Dziurzynski Labs.
Address: Gaithersburg, MD Phone: (301) 417-0770 Fax: (301) 417-0770
Status: Designated/Approved Designation Date: 27-Sep-90 Marketing Approval Date: 18-Jan-96

Generic Name: Respiratory Syncytial Virus Immune Globulin (human) Trade Name: Hypermune RSV
Orphan Indication: Treatment of respiratory syncytial virus lower respiratory tract infections in hospitalized infants and young children.
Sponsor: MedImmune, Inc. Contact: Mr. Bogdan Dziurzynski
Address: Gaithersburg, MD Phone: (301) 417-0770 Fax:
Status: Designated Designation Date: 27-Sep-90 Marketing Approval Date:

Generic Name: Retroviral vector, R-GC and GC gene 1750 Trade Name:
Orphan Indication: Treatment of Gaucher disease.
Sponsor: Genzyme Corporation Contact: Dr. Mark Hayes
Address: Framingham, MA Phone: 5082713961 Fax: 5082712692
Status: Designated Designation Date: 06-May-97 Marketing Approval Date:

Generic Name: RGG0853, E1A lipid complex Trade Name:

Orphan Indication: Treatment of ovarian cancer.
Sponsor: Targeted Genetics Corporation Contact: Ms. Johanne Gallagher
Address: Seattle, WA Phone: 2065217355 Fax: (206) 223-0288
Status: Designated Designation Date: 27-Oct-97 Marketing Approval Date:

Generic Name: Rho (D) immune globulin intravenous (human) Trade Name: WinRho SD
Orphan Indication: Treatment of immune thrombocytopenic purpura.
Sponsor: Rh Pharmaceuticals, Inc. Contact: Mr. Kelvin Li
Address: Canada R3T 2N2, CA Phone: (301) 770-3099 Fax:
Status: Designated/Approved Designation Date: 09-Nov-93 Marketing Approval Date: 24-Mar-95

Generic Name: Ribavirin Trade Name: Virazole

Orphan Indication: Treatment of hemorrhagic fever with renal syndrome.
Sponsor: ICN Pharmaceuticals, Inc. Contact: Ms. Anil Hiteshi
Address: Costa Mesa, CA Phone: (800) 548-5100 Fax: (714) 641-7287
Status: Designated Designation Date: 12-Apr-91 Marketing Approval Date:

Generic Name: Ricin (blocked) conjugated murine MCA (anti-B4) Trade Name:
Orphan Indication: 1). Treatment of B-cell leukemia and B-cell lymphoma. 2). For the ex-vivo purging of leukemic cells from the bone marrow of non-T cell acute
lymphocytic leukemia patients who are in complete remission. 3). Treatment of myeloid leukemia, including AML, and blast crisis of CML.
Sponsor: ImmunoGen, Inc. Contact: Dr. Carol Gloff
Address: Cambridge, MA Phone: (617) 661-9312 Fax: (617) 661-9334
Status: Designated Designation Date: 17-Nov-88(1), 24-Jan-91(2), 03-Aug-89 Marketing Approval Date:

Generic Name: Ricin (blocked) conjugated murine MCA (anti-my9) Trade Name:
Orphan Indication: For use in the ex-vivo treatment of autologous bone marrow and subsequent reinfusion in patients with acute myelogenous leukemia.
Sponsor: ImmunoGen, Inc. Contact: Dr. Carol Gloff
Address: Cambridge, MA Phone: (617) 661-9312 Fax: (617) 661-9334
Status: Designated Designation Date: 01-Feb-90 Marketing Approval Date:

Generic Name: Ricin (blocked) conjugated murine MCA (n901) Trade Name:
Orphan Indication: Treatment of small cell lung cancer.
Sponsor: ImmunoGen, Inc. Contact: Dr. John Lambert
Address: Cambridge, MA Phone: (617) 497-1113 Fax: (617) 497-5406
Status: Designated Designation Date: 25-Jan-91 Marketing Approval Date:

Generic Name: Ricin (blocked) conjugated murine monoclonal antibody (CD6) Trade Name:
Orphan Indication: Treatment of cutaneous T-cell lymphomas, acute T-cell leukemia-lymphoma, and related mature T-cell malignancies.
Sponsor: ImmunoGen, Inc. Contact: Dr. Carol Gloff
Address: Cambridge, MA Phone: (617) 661-9312 Fax: (617) 661-9334
Status: Designated Designation Date: 06-Sep-94 Marketing Approval Date:

Generic Name: Rifabutin Trade Name: Mycobutin

Orphan Indication: Prevention of disseminated Mycobacterium avium complex disease in patients with advanced HIV infection.
Sponsor: Adria Laboratories, Inc. Contact: Mr. Douglas Jones
Address: Columbus, OH Phone: (614) 764-8100 Fax: (614) 764-8102
Status: Designated/Approved Designation Date: 18-Dec-89 Marketing Approval Date: 23-Dec-92

Generic Name: Rifabutin Trade Name:

Orphan Indication: Treatment of disseminated Mycobacterium avium complex disease.
Sponsor: Pharmacia & Upjohn Contact: Mr. Gregory Brier
Address: Kalamazoo, MI Phone: (616) 833-0286 Fax: (606) 833-0409
Status: Designated Designation Date: 18-Dec-89 Marketing Approval Date:

Generic Name: Rifalazil Trade Name:

Orphan Indication: Treatment of pulmonary tuberculosis.
Sponsor: PathoGenesis Corporation Contact: Dr. William Pitlick
179
Address: Seattle, WA Phone: (206) 270-3319 Fax: (206) 282-5065
Status: Designated Designation Date: 13-Apr-99 Marketing Approval Date:

Generic Name: Rifampin Trade Name: Rifadin I.V.

Orphan Indication: For antituberculosis treatment where use of the oral form of the drug is not feasible.
Sponsor: Hoechst Marion Roussel Contact: Dr. Jack Dunn
Address: Kansas City, MO Phone: (816) 966-5000 Fax:
Status: Designated/Approved Designation Date: 09-Dec-85 Marketing Approval Date: 25-May-89

Generic Name: Rifampin, isoniazid, pyrazinamide Trade Name: Rifater

Orphan Indication: For the short-course treatment of tuberculosis.
Sponsor: Hoechst Marion Roussel Contact: Dr. Jack Dunn
Address: Kansas City, MO Phone: (816) 966-5000 Fax:
Status: Designated/Approved Designation Date: 12-Sep-85 Marketing Approval Date: 31-May-94

Generic Name: Rifapentine Trade Name: Priftin

Orphan Indication: Treatment of pulmonary tuberculosis.
Sponsor: Hoechst Marion Roussel Contact: Ms. Libby Hayes
Address: Kansas City, MO Phone: (816) 966-7185 Fax:
Status: Designated/Approved Designation Date: 09-Jun-95 Marketing Approval Date: 22-Jun-98

Generic Name: Rifapentine Trade Name: Priftin

Orphan Indication: Treatment of Mycobacterium avium complex in patients with AIDS.
Sponsor: Hoechst Marion Roussel , Inc. Contact: Ms. Libby Hayes
Address: Kansas City, MO Phone: (816) 966-7185 Fax:
Status: Designated Designation Date: 09-Jun-95 Marketing Approval Date:

Generic Name: Rifapentine Trade Name: Priftin

Orphan Indication: Prophylactic treatment of Mycobacterium avium complex in patients with AIDS and a CD4+ count less than or equal to 75/mm3.
Sponsor: Hoechst Marion Roussel, Inc. Contact: Ms. Libby Hayes
Address: Kansas City, MO Phone: (816) 966-7185 Fax: (816) 966-6790
Status: Designated Designation Date: 12-Mar-96 Marketing Approval Date:

Generic Name: Rifaximin Trade Name: Normix

Orphan Indication: Treatment of hepatic encephalopathy.
Sponsor: Salix Pharmaceuticals, Inc. Contact: Dr. Lorin Johnson
Address: Palo Alto, CA Phone: 6508495903 Fax: (650) 856-1555
Status: Designated Designation Date: 10-Feb-98 Marketing Approval Date:

Generic Name: RII retinamide Trade Name:

Orphan Indication: Treatment of myelodysplastic syndromes.
Sponsor: Sparta Pharmaceuticals, Inc. Contact: Ms. Cris Triolo
Address: Horsham, PA Phone: (215) 442-1700 Fax: (215) 442-1827
Status: Designated Designation Date: 06-May-93 Marketing Approval Date:

Generic Name: Riluzole Trade Name: Rilutek

Orphan Indication: 1). Treatment of Huntington's disease. 2). Treatment of amyotrophic lateral sclerosis.
Sponsor: Rhone-Poulenc Rorer Pharmaceuticals, Inc. Contact: Dr. Ronald Dundore
Address: Collegeville, PA Phone: (610) 454-5305 Fax: (610) 454-5779
Status: Designated Designation Date: 15-Oct-96(1), 16-Mar-93(2) Marketing Approval Date: 12-Dec-95(2)

Generic Name: Rituximab Trade Name: Rituxan

Orphan Indication: Treatment of non-Hodgkin's B-cell lymphoma.
Sponsor: IDEC Pharmaceuticals Corporation Contact: Ms. Alice Wei
Address: San Diego, CA Phone: (858) 431-8920 Fax: (858) 431-8889
Status: Designated/Approved Designation Date: 13-Jun-94 Marketing Approval Date: 26-Nov-97

Generic Name: Roquinimex Trade Name: Linomide

Orphan Indication: To prolong time to relapse in leukemia patients who have undergone autologous bone marrow transplantation.
Sponsor: Pharmacia & Upjohn Contact: Mr. Robert Paarlberg
Address: Kalamazoo, MI Phone: (616) 833-0646 Fax: (616) 833-8237
Status: Designated/Withdrawn Designation Date: 01-Jul-93 Marketing Approval Date:

Generic Name: rSP-C lung surfactant Trade Name: Venticute

Orphan Indication: Treatment of adult respiratory distress syndrome.
Sponsor: Byk Gulden Pharmaceuticals Contact: Mr. Robert Anderson
Address: Germany, DE Phone: (631) 454-7677 Fax: (631) 756-5114
Status: Designated Designation Date: 03-Apr-00 Marketing Approval Date:

Generic Name: S-adenosylmethionine Trade Name:

Orphan Indication: Treatment of AIDS-myelopathy.
Sponsor: Di Rocco, Alessandro M.D. Contact: Dr. Alessandro Di Rocco
Address: New York, NY Phone: (212) 844-8652 Fax: (212) 844-8461
Status: Designated Designation Date: 30-Apr-98 Marketing Approval Date:

Generic Name: Sacrosidase Trade Name: Sucraid

Orphan Indication: Treatment of congenital sucrase-isomaltase deficiency.
Sponsor: Orphan Medical, Inc. Contact: Dr. Dayton Reardon
Address: Minnetonka, MN Phone: (612) 513-6900 Fax: (612) 541-9209
Status: Designated/Approved Designation Date: 10-Dec-93 Marketing Approval Date: 09-Apr-98

Generic Name: Sargramostim Trade Name: Leukine

180
Orphan Indication: 1). Treatment of neutropenia associated with bone marrow transplant, for the treatment of graft failure and delay of engraftment, and for the
promotion of early engraftment. 2). To reduce neutropenia and leukopenia and decrease the incidence of death due to infection in patients with acute myelogenous
leukemia.
Sponsor: Immunex Corporation Contact: Ms. Sally Gould
Address: Seattle, WA Phone: (206) 587-0430 Fax:
Status: Designated/Approved Designation Date: 03-May-90(1), 06-Mar-95(2) Marketing Approval Date: 05-Mar-91(1), 15-Sep-95(2)

Generic Name: Satumomab pendetide Trade Name: Oncoscint CR/OV

Orphan Indication: Detection of ovarian carcinoma.
Sponsor: Cytogen Corporation Contact: Dr. Melvin Fisher
Address: Princeton, NJ Phone: (609) 987-8200 Fax:
Status: Designated/Approved Designation Date: 25-Sep-89 Marketing Approval Date: 29-Dec-92

Generic Name: SB-408075 Trade Name:

Orphan Indication: For pancreatic cancer
Sponsor: SmithKline Beecham Pharmaceuticals Contact: Dr. Olivia Pinkett
Address: Collegeville, PA Phone: 6109175840 Fax: 6109177665
Status: Designated Designation Date: 07-Dec-00 Marketing Approval Date:

Generic Name: SCH 58500 Trade Name:

Orphan Indication: Treatment of primary ovarian cancer.
Sponsor: Schering Corporation Contact: Dr. Joseph Lamendola
Address: Kenilworth, NJ Phone: (908) 740-2628 Fax:
Status: Designated Designation Date: 12-Apr-99 Marketing Approval Date:

Generic Name: Secalciferol Trade Name: Osteo-D

Orphan Indication: Treatment of familial hypophosphatemic rickets.
Sponsor: Teva Pharmaceuticals USA Contact: Dr. Scott Grossman
Address: Sellersville, PA Phone: (215) 256-8400 Fax: (215) 256-7855
Status: Designated Designation Date: 26-Jul-93 Marketing Approval Date:

Generic Name: Secretory leukocyte protease inhibitor Trade Name:

Orphan Indication: Treatment of bronchopulmonary dysplasia.
Sponsor: Synergen, Inc. Contact: Mr. Jeffrey Fellows
Address: Boulder, CO Phone: (303) 938-6200 Fax:
Status: Designated Designation Date: 30-Jun-92 Marketing Approval Date:

Generic Name: Selegiline HCl Trade Name: Eldepryl

Orphan Indication: As an adjuvant to levodopa and carbidopa treatment of idiopathic Parkinson's disease (paralysis agitans), postencephalitic Parkinsonism, and symptomatic
Parkinsonism.
Sponsor: Somerset Pharmaceuticals, Inc. Contact: Mr. John Saenger
Address: Tampa, FL Phone: (813) 223-7677 Fax:
Status: Designated/Approved Designation Date: 07-Nov-84 Marketing Approval Date: 05-Jun-89

Generic Name: Sermorelin acetate Trade Name: Geref

Orphan Indication: 1). Adjunct to gonadotropin therapy in the induction of ovulation in women with anovulatory or oligo-ovulatory infertility who fail to ovulate in response to
adequate treatment with clomiphene citrate alone and gonadotropin therapy alone. 2). Treatment of AIDS-associated catabolism/weight loss. 3). Treatment of
idiopathic or organic growth hormone deficiency in children with growth failure.
Sponsor: Serono Laboratories, Inc. Contact: Ms. Pamela Williamson Joyce
Address: Norwell, MA Phone: (781) 982-9000 Fax: (617) 871-6754
Status: Designated Designation Date: 13-Feb-90(1), 05-Dec-91(2), 14-Sep-88(3) Marketing Approval Date: 26-Sep-97(3)

Generic Name: Serratia marcescens extract (polyribosomes) Trade Name: Imuvert

Orphan Indication: Treatment of primary brain malignancies.
Sponsor: Cell Technology, Inc. Contact: Mr. Michael Andrews
Address: Boulder, CO Phone: (303) 443-8155 Fax:
Status: Designated Designation Date: 07-Sep-88 Marketing Approval Date:

Generic Name: Short chain fatty acid enema Trade Name: Colomed
Orphan Indication: Treatment of chronic radiation proctitis.
Sponsor: Richard I. Breuer, M.D. Contact: Dr. Richard Breuer
Address: Evanston, IL Phone: 8475701530 Fax:
Status: Designated Designation Date: 19-Aug-97 Marketing Approval Date:

Generic Name: Short chain fatty acid solution Trade Name: Colomed
Orphan Indication: Treatment of the active phase of ulcerative colitis with involvement restricted to the left side of the colon.
Sponsor: Richard I. Breuer Contact: Dr. Richard Breuer
Address: Evanston, IL Phone: 8475701530 Fax:
Status: Designated Designation Date: 29-May-90 Marketing Approval Date:

Generic Name: Silver sulfadiazine and cerium nitrate Trade Name: Flammacerium
Orphan Indication: Prevention of mortality in severely burned patients.
Sponsor: Synthes (USA) Contact: Mr. Jim McCracken
Address: Paoli, PA Phone: (610) 647-9700 Fax: (610) 251-2848
Status: Designated Designation Date: 17-Nov-99 Marketing Approval Date:

Generic Name: SK&F 110679 Trade Name:

Orphan Indication: For the long term treatment of children who have growth failure due to a lack of adequate endogenous growth hormone secretion.
Sponsor: SmithKline Beecham Pharmaceuticals Contact: Dr. Stella Jones
Address: Philadelphia, PA Phone: (215) 751-4000 Fax: (215) 751-3400
Status: Designated/Withdrawn Designation Date: 23-May-90 Marketing Approval Date:

181
Generic Name: Sodium 1,3-propanedisulfonate Trade Name:
Orphan Indication: Treatment of secondary amyloidosis.
Sponsor: Neurochem, Inc. Contact: Mr. Douglas Hunt
Address: Canada H4S 2A1, CA Phone: (301) 272-3106 Fax: (301) 272-2150
Status: Designated Designation Date: 06-Apr-99 Marketing Approval Date:

Generic Name: Sodium dichloroacetate Trade Name:

Orphan Indication: 1). Treatment of lactic acidosis in patients with severe malaria. 2). Treatment of congenital lactic acidosis. 3). Treatment of homozygous
familial hypercholesterolemia.
Sponsor: Stacpoole, Peter W. M.D., Ph.D. Contact: Dr. Peter Stacpoole
Address: Gainesville, FL Phone: (904) 392-2321 Fax:
Status: Designated Designation Date: 10-Nov-94(1), 11-Jun-90(2, 3) Marketing Approval Date:

Generic Name: Sodium dichloroacetate Trade Name: Ceresine

Orphan Indication: 1). Treatment of severe head injury. 2). Treatment of congenital lactic acidosis.
Sponsor: Questcor Pharmaceuticals, Inc. Contact: Dr. Jonathan Goldsmith
Address: Hayward, CA Phone: 5107325551 Fax:
Status: Designated Designation Date: 14-Jun-99(1), 31-Dec-97(2) Marketing Approval Date:

Generic Name: Sodium monomercaptoundecahydro-closo-dodecaborate Trade Name:

Orphan Indication: For use in conjunction with a thermal or epithermal neutron beam in boron nuclear capture therapy of glioblastoma multiforme.
Sponsor: Theragenics Corporation Contact:
Address: , Phone: Fax:
Status: Designated/Withdrawn Designation Date: 18-Dec-84 Marketing Approval Date:

Generic Name: Sodium Monomercaptoundecahydro-closo-dodecaborate Trade Name: Borocell

Orphan Indication: For use in boron neutron capture therapy (BNCT) in the treatment of glioblastoma multiforme.
Sponsor: Neutron Technology Corp.& Neutron R&D Partner Contact: Mr. Ron Twilegar
Address: Boise, ID Phone: (208) 345-3460 Fax: (208) 367-9156
Status: Designated Designation Date: 15-Apr-92 Marketing Approval Date:

Generic Name: sodium phenylbutyrate Trade Name: Buphenyl

Orphan Indication: 1). Treatment for sickling disorders, which include S-S hemoglobinopathy, S-C hemoglobinopathy, and S-thalassemia hemoglobinopathy. 2).
Treatment of urea cycle disorders: carbamylphosphate synthetase deficiency, ornithine transcarbamylase deficiency, and arginiosuccinic acid synthetase deficiency.
Sponsor: Medicis Pharmaceutical Corp. Contact: Ms. Lynn Hansen
Address: Scottsdale, AZ Phone: 6028083813 Fax: 6028080822
Status: Designated Designation Date: 02-Jul-92(1), 22-Nov-93(2) Marketing Approval Date: 29-Jul-94(2)

Generic Name: Sodium phenylbutyrate Trade Name:

Orphan Indication: For use as an adjuct to surgery, radiation therapy and chemotherapy for the treatment of patients with primary or recurrent malignant glioma.
Sponsor: Elan Pharmaceutical Research Corporation Contact: Mr. Roger Wiley
Address: Gainesville, GA Phone: (770) 534-8239 Fax: (770) 534-8247
Status: Designated Designation Date: 24-Apr-98 Marketing Approval Date:

Generic Name: Sodium tetradecyl sulfate Trade Name: Sotradecol

Orphan Indication: Treatment of bleeding esophageal varices.
Sponsor: Elkins-Sinn, Inc. Contact: Ms. Thelma Hilibrand
Address: Cherry Hill, NJ Phone: (609) 424-3700 Fax:
Status: Designated Designation Date: 10-Jun-86 Marketing Approval Date:

Generic Name: Soluble complement receptor type 1 Trade Name:

Orphan Indication: Prevention of post-cardiopulmonary bypass syndrome in children undergoing cardiopulmonary bypass.
Sponsor: Avant Immunotherapeutics, Inc. Contact: Ms. Joan Shankle
Address: Needham, MA Phone: (781) 433-3129 Fax:
Status: Designated Designation Date: 06-Mar-00 Marketing Approval Date:

Generic Name: Soluble recombinant human complement receptor type 1 Trade Name:
Orphan Indication: Prevention or reduction of adult respiratory distress syndrome.
Sponsor: T Cell Sciences, Inc. Contact: Dr. Ellen Essigmann
Address: Needham Heights, MA Phone: (617) 621-1400 Fax:
Status: Designated Designation Date: 21-Nov-94 Marketing Approval Date:

Generic Name: Somatostatin Trade Name:

Orphan Indication: Treatment of bleeding esophageal varices.
Sponsor: UCB Pharmaceuticals, Inc. Contact: Ms. Sandy Bonsall
Address: Smyrna, GA Phone: (770) 437-5654 Fax: (770) 437-5507
Status: Designated Designation Date: 22-Dec-94 Marketing Approval Date:

Generic Name: Somatostatin Trade Name: Zecnil

Orphan Indication: Adjunct to the non-operative management of secreting cutaneous fistulas of the stomach, duodenum, small intestine (jejunum and ileum), or pancreas.
Sponsor: Ferring Laboratories, Inc. Contact: Mr. Isidoro Nudelman
Address: Suffern, NY Phone: (888) 793-6367 Fax:
Status: Designated Designation Date: 20-Jun-88 Marketing Approval Date:

Generic Name: Somatrem for injection Trade Name: Protropin

Orphan Indication: 1). For long-term treatment of children who have growth failure due to a lack of adequate endogenous growth hormone secretion. 2). Treatment of
short stature associated with Turner's syndrome.
Sponsor: Genentech, Inc. Contact: Dr. M. David MacFarlane
Address: South San Francisco, CA Phone: (415) 225-1000 Fax: (415) 225-6000
Status: Designated/Approved Designation Date: 09-Dec-85(1), 09-Dec-85(2) Marketing Approval Date: 17-Oct-85(1),

182
Generic Name: Somatropin Trade Name: Nutropin
Orphan Indication: For use in the long-term treatment of children who have growth failure due to a lack of adequate endogenous growth hormone secretion.
Sponsor: Genentech, Inc. Contact: Dr. M. David MacFarlane
Address: South San Francisco, CA Phone: (415) 225-1000 Fax: (415) 225-6000
Status: Designated/Approved Designation Date: 06-Mar-87 Marketing Approval Date: 17-Oct-85

Generic Name: Somatropin Trade Name: Humatrope

Orphan Indication: Treatment of short stature associated with Turner syndrome.
Sponsor: Eli Lilly and Company Contact: Dr. Timothy Franson
Address: Indianapolis, IN Phone: (317) 276-2000 Fax:
Status: Designated/Approved Designation Date: 08-May-90 Marketing Approval Date: 11-Mar-97

Generic Name: Somatropin Trade Name: Genotropin

Orphan Indication: Treatment of adults with growth hormone deficiency.
Sponsor: Pharmacia & Upjohn Contact: Mr. Gregory Shawaryn
Address: Kalamazoo, MI Phone: (616) 833-8239 Fax: (616) 833-8237
Status: Designated/Approved Designation Date: 06-Sep-94 Marketing Approval Date: 31-Oct-97

Generic Name: Somatropin Trade Name: Norditropin

Orphan Indication: 1). Adjunct for the induction of ovulation in women with infertility due to hypogonadotropic hypogonadism or bilateral tubal occlusion or unexplained
infertility, who are undergoing in vivo or in vitro fertilization procedures. 2). Treatment of short stature associated with Turner's syndrome.
Sponsor: Novo Nordisk Pharmaceuticals Contact: Lawrence Rosania
Address: Princeton, NJ Phone: (609) 987-5847 Fax: (609) 921-8082
Status: Designated/Withdrawn Designation Date: 01-Sep-87(1), 05-Nov-87(2) Marketing Approval Date:

Generic Name: Somatropin Trade Name: Biotropin

Orphan Indication: Treatment of cachexia associated with AIDS.
Sponsor: Bio-Technology General Corp. Contact: Ms. Annmarie Petraglia
Address: Iselin, NJ Phone: (908) 632-8800 Fax: (908) 632-8844
Status: Designated/Withdrawn Designation Date: 12-Feb-93 Marketing Approval Date:

Generic Name: Somatropin (rDNA) Trade Name: Saizen

Orphan Indication: For the enhancement of nitrogen retention in hospitalized patients suffering from severe burns.
Sponsor: Serono Laboratories, Inc. Contact: Ms. Pamela Williamson Joyce
Address: Norwell, MA Phone: (781) 982-9000 Fax: (617) 871-6754
Status: Designated Designation Date: 03-May-89 Marketing Approval Date:

Generic Name: Somatropin (r-DNA) Trade Name: Serostim

Orphan Indication: 1). For use alone or in combination with glutamine in the treatment of short bowel syndrome. 2). Treatment of children with AIDS-associated
failure-to-thrive including AIDS-associated wasting.
Sponsor: Serono Laboratories, Inc. Contact: Ms. Pamela Williamson Joyce
Address: Norwell, MA Phone: (781) 982-9000 Fax: (781) 871-6754
Status: Designated Designation Date: 06-Mar-95(1), 26-Mar-96(2) Marketing Approval Date:

Generic Name: Somatropin (rDNA origin) Trade Name: Nutropin Depot

Orphan Indication: Long-term treatment of children who have growth failure due to a lack of adequate endogenous growth hormone secretion.
Sponsor: Genentech, Inc. Contact: Dr. Robert Garnick
Address: South San Francisco, CA Phone: (650) 225-1202 Fax: (650) 225-5927
Status: Designated/Approved Designation Date: 28-Oct-99 Marketing Approval Date: 22-Dec-99

Generic Name: Somatropin (rDNA origin) Trade Name: Saizen

Orphan Indication: Treatment of idiopathic or organic growth hormone deficiency in children with growth failure.
Sponsor: Serono Laboratories, Inc. Contact: Ms. Pamela Williamson Joyce
Address: Norwell, MA Phone: (800) 283-8088 Fax: (617) 871-6754
Status: Designated/Approved Designation Date: 06-Mar-87 Marketing Approval Date: 08-Oct-96

Generic Name: Somatropin (rDNA origin) injection Trade Name: Norditropin

Orphan Indication: Treatment of growth failure in children due to inadequate growth hormone secretion.
Sponsor: Novo Nordisk Pharmaceuticals Contact: Mr. Lawrence Rosania
Address: Princeton, NJ Phone: (609) 987-5847 Fax: (609) 921-8082
Status: Designated/Approved Designation Date: 10-Jul-87 Marketing Approval Date: 20-Jun-00

Generic Name: somatropin [rDNA] Trade Name: Genotropin

Orphan Indication: 1). Treatment of growth failure in children who were born small for gestational age. 2). Treatment of short stature in patients with Prader-Willi
syndrome.
Sponsor: Pharmacia and Upjohn Company Contact: Mr. Daniel Chirby
Address: Kalamazoo, MI Phone: (616) 833-9411 Fax:
Status: Designated Designation Date: 27-Dec-00(1), 06-Jul-99(2) Marketing Approval Date: 20-Jun-00(2)

Generic Name: Somatropin for injection Trade Name: Nutropin

Orphan Indication: 1). As replacement therapy for growth hormone deficiency in adults after epiphyseal closure. 2). Treatment of short stature associated with
Turner's syndrome. 3). Treatment of growth retardation associated with chronic renal failure.
Sponsor: Genentech, Inc. Contact: Dr. M. David MacFarlane
Address: South San Francisco, CA Phone: (415) 225-1000 Fax: (415) 225-6000
Status: Designated/Approved Designation Date: 18-Nov-96(1), 23-Mar-89(2), 04-Aug-89(3) Marketing Approval Date: 15-Dec-97(1), 30-Dec-96 (2), 17-Nov-93 (3)

Generic Name: Somatropin for injection Trade Name: Serostim

Orphan Indication: Treatment of AIDS-associated catabolism/weight loss.
Sponsor: Serono Laboratories, Inc. Contact: Mr. Thomas Lang
Address: Norwell, MA Phone: (617) 982-9000 Fax: (617) 871-6754
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Status: Designated/Approved Designation Date: 15-Nov-91 Marketing Approval Date: 23-Aug-96

Generic Name: Somatropin for injection Trade Name: Humatrope

Orphan Indication: For the long-term treatment of children who have growth failure due to inadequate secretion of normal endogenous growth hormone.
Sponsor: Eli Lilly and Company Contact: Dr. Timothy Franson
Address: Indianapolis, IN Phone: (317) 276-2000 Fax:
Status: Designated/Approved Designation Date: 12-Jun-86 Marketing Approval Date: 08-Mar-87

Generic Name: Sorivudine Trade Name: BRAVAVIR

Orphan Indication: Treatment of herpes zoster (shingles) in immunocompromised patients.
Sponsor: Bristol-Myers Squibb Contact: Dr. Douglas Kriesel
Address: Wallingford, CT Phone: (203) 284-6883 Fax:
Status: Designated/Withdrawn Designation Date: 09-Nov-95 Marketing Approval Date:

Generic Name: Sotalol HCl Trade Name: Betapace

Orphan Indication: 1). Prevention of life threatening ventricular tachyarrhythmias. 2). Treatment of life-threatening ventricular tachyarrhythmias.
Sponsor: Berlex Laboratories, Inc. Contact: Dr. Suzanne Hampton
Address: Wayne, NJ Phone: (201) 305-5288 Fax:
Status: Designated/Withdrawn Designation Date: 23-Sep-88(1, 2), Marketing Approval Date: 30-Oct-92(2)

Generic Name: Spiramycin Trade Name: Rovamycine

Orphan Indication: For symptomatic relief and parasitic cure of chronic cryptosporidiosis in patients with immunodeficiency.
Sponsor: Rhone-Poulenc Rorer Pharmaceuticals Contact: Dr. Thomas Donnelly
Address: Collegeville, PA Phone: (610) 454-3023 Fax:
Status: Designated/Withdrawn Designation Date: 17-Oct-84 Marketing Approval Date:

Generic Name: ST1-RTA immunotoxin (SR 44163) Trade Name:

Orphan Indication: 1). Treatment of patients with B-chronic lymphocytic leukemia. 2). Prevention of acute graft versus host disease in allogenic bone marrow
transplantation.
Sponsor: Sanofi Winthrop, Inc. Contact: Ms. Jan Farrar
Address: Malvern, PA Phone: (610) 983-5000 Fax:
Status: Designated/Withdrawn Designation Date: 12-Aug-87(1, 2) Marketing Approval Date:

Generic Name: Sterile talc Trade Name: Steritalc

Orphan Indication: 1). Treatment of malignant pleural effusion. 2). Treatment of pneumothorax.
Sponsor: Novatech SA Contact: Ms. Sylvia White
Address: France, Phone: (302) 998-0595 Fax: (302) 998-7078
Status: Designated Designation Date: 08-Dec-97( 11, 2) Marketing Approval Date:

Generic Name: Sterile talc powder Trade Name: Sclerosol Intrapleural Aerosol
Orphan Indication: Treatment of malignant pleural effusion.
Sponsor: Bryan Corporation Contact: Mr. Frank Abrano
Address: Woburn, MA Phone: (781) 935-0004 Fax: (781) 935-7602
Status: Designated/Approved Designation Date: 18-Sep-95 Marketing Approval Date: 24-Dec-97

Generic Name: SU101 Trade Name:

Orphan Indication: 1). Treatment of ovarian cancer. 2). Treatment of malignant glioma.
Sponsor: Sugen, Inc. Contact: Ms. Margie Nemcik-Cruz
Address: South San Francisco, CA Phone: (650) 553-8789 Fax: (650) 553-8312
Status: Designated Designation Date: 12-Mar-96(1), 25-May-95(2) Marketing Approval Date:

Generic Name: Succimer Trade Name: Chemet capsules

Orphan Indication: Treatment of lead poisoning in children.
Sponsor: Bock Pharmacal Company Contact: Mr. David Byron
Address: Saint Louis, MO Phone: (800) 727-2625 Fax:
Status: Designated/Approved Designation Date: 09-May-84 Marketing Approval Date: 22-Dec-88

Generic Name: Succimer Trade Name: Chemet

Orphan Indication: 1). Prevention of cystine kidney stone formation in patients with homozygous cystinuria who are prone to stone development. 2). Treatment of
mercury intoxication.
Sponsor: Sanofi Winthrop, Inc. Contact: Ms. Allyson Chambers
Address: New York, NY Phone: (212) 551-4233 Fax:
Status: Designated Designation Date: 05-Nov-90(1), 22-Mar-91(2) Marketing Approval Date:

Generic Name: Sucralfate Trade Name:

Orphan Indication: Treatment of oral mucositis and stomatitis following radiation therapy for head and neck cancer.
Sponsor: Fuisz Technologies, Ltd. Contact: Dr. Mireille Peyrac
Address: Chantilly, VA Phone: (703) 803-3260 Fax: (703) 803-6460
Status: Designated/Withdrawn Designation Date: 15-Jul-93 Marketing Approval Date:

Generic Name: Sucralfate suspension Trade Name:

Orphan Indication: Treatment of oral complications of chemotherapy in bone marrow transplant patients.
Sponsor: Darby Pharmaceuticals, Inc. Contact: Mr. Richard Scotland
Address: Rockville Centre, NY Phone: (516) 536-3636 Fax:
Status: Designated Designation Date: 12-Mar-90 Marketing Approval Date:

Generic Name: Sucralfate suspension Trade Name:

Orphan Indication: Treatment of oral ulcerations and dysphagia in patients with epidermolysis bullosa.
Sponsor: Darby Pharmaceuticals, Inc. Contact: Mr. Richard Scotland
Address: Rockville Centre, NY Phone: (516) 536-3636 Fax:
Status: Designated Designation Date: 04-Mar-91 Marketing Approval Date:

184
Generic Name: Sulfadiazine Trade Name:
Orphan Indication: For use in combination with pyrimethamine for the treatment of Toxoplasma gondii encephalitis in patients with and without AIDS.
Sponsor: Eon Labs Manufacturing, Inc. Contact: Ms. Carol Frankel
Address: Laurelton, NY Phone: (212) 755-2339 Fax:
Status: Designated/Approved Designation Date: 14-Mar-94 Marketing Approval Date: 29-Jul-94

Generic Name: Sulfapyridine Trade Name:

Orphan Indication: Treatment of dermatitis herpetiformis.
Sponsor: Jacobus Pharmaceutical Company Contact: Dr. Neil Lewis
Address: Princeton, NJ Phone: (609) 921-7447 Fax:
Status: Designated Designation Date: 10-Sep-90 Marketing Approval Date:

Generic Name: Superoxide dismutase (human) Trade Name:

Orphan Indication: For protection of donor organ tissue from damage or injury mediated by oxygen-derived free radicals that are generated during the necessary periods of
ischemia (hypoxia, anoxia), and especially reperfusion, associated with the operative procedure.
Sponsor: Pharmacia-Chiron Partnership Contact: Dr. Bernardita Mendez
Address: Emeryville, CA Phone: (510) 655-8729 Fax:
Status: Designated Designation Date: 06-Mar-85 Marketing Approval Date:

Generic Name: Superoxide dismutase (recombinant human) Trade Name: Oxsodrol

Orphan Indication: Prevention of reperfusion injury to donor organ tissue.
Sponsor: Bio-Technology General Corp. Contact: Ms. Briti Kundu
Address: Iselin, NJ Phone: (732) 632-8800 Fax: (732) 632-8844
Status: Designated/Withdrawn Designation Date: 17-May-88 Marketing Approval Date:

Generic Name: Suramin Trade Name: Metaret

Orphan Indication: Treatment of hormone-refractory prostate cancer.
Sponsor: Warner-Lambert Company Contact: Dr. Margaret Uprichard
Address: Ann Arbor, MI Phone: (313) 996-4906 Fax: (313) 998-3283
Status: Designated Designation Date: 06-May-97 Marketing Approval Date:

Generic Name: Surface active extract of saline lavage of bovine lungs Trade Name: Infasurf
Orphan Indication: Treatment and prevention of respiratory failure due to pulmonary surfactant deficiency in preterm infants.
Sponsor: ONY, Inc. Contact: Dr. Edmund Egan
Address: Amherst, NY Phone: (716) 636-9096 Fax:
Status: Designated/Approved Designation Date: 07-Jun-85 Marketing Approval Date: 01-Jul-98

Generic Name: Surfactant (human) (amniotic fluid derived) Trade Name: Human Surf
Orphan Indication: Prevention and treatment of neonatal respiratory distress syndrome.
Sponsor: Merritt, T. Allen M.D. Contact: Dr. T. Allen Merritt
Address: Sacramento, CA Phone: (916) 734-7613 Fax:
Status: Designated/Withdrawn Designation Date: 25-Mar-87 Marketing Approval Date:

Generic Name: Synsorb Pk Trade Name:

Orphan Indication: Treatment of verocytotoxogenic E. coli infections.
Sponsor: Synsorb Biotech Inc. Contact: Mr. Gerald Swiss
Address: Canada T2N 3P5, CA Phone: (415) 854-7400 Fax:
Status: Designated Designation Date: 17-Jul-95 Marketing Approval Date:

Generic Name: Synthetic Human Parathyroid Hormone 1-34 Trade Name:

Orphan Indication: Treatment of hypoparathyroidism
Sponsor: Orphan Pharmaceuticals, U.S., Inc. Contact: Mr. Milton Ellis
Address: Nashville, TN Phone: 6153990700 Fax:
Status: Designated Designation Date: 26-Jan-01 Marketing Approval Date:

Generic Name: Synthetic human secretin Trade Name:

Orphan Indication: 1). For use in obtaining desquamated pancreatic cells for cytopathologic examination in pancreatic carcinoma. 2). For use in conjunction with
diagnostic procedures for pancreatic disorders to increase pancreatic fluid secretion. 3). For use in the diagnosis of gastrinoma associated with Zollinger-Ellison
syndrome. 4). For use in the evaluation of exocrine pancreas function. 5). For use in the evaluation of exocrine pancreas function.
Sponsor: ChiRhoClin, Inc. Contact: Dr. Edward Purich
Address: Silver Spring, MD Phone: (301) 384-1554 Fax: (301) 384-1565
Status: Designated Designation Date: 16-Jun-99(1, 3, 4), 07-Mar-00(2), 18-Jun-99(5) Marketing Approval Date:

Generic Name: Synthetic porcine secretin Trade Name:

Orphan Indication: 1). For use in obtaining desquamated pancreatic cells for cytopathologic examination in pancreatic carcinoma. 2). For use in the diagnosis of
gastrinoma associated with Zollinger-Ellison syndrome. 3). For use in conjunction with diagnostic procedures for pancreatic disorders to increase pancreatic fluid
secretion.
Sponsor: ChiRhoClin, Inc. Contact: Dr. Edward Purich
Address: Silver Spring, MD Phone: (301) 384-1554 Fax: (301) 384-1565
Status: Designated Designation Date: 18-Jun-99(1, 2), 07-Mar-00(3) Marketing Approval Date:

Generic Name: T4 endonuclease V, liposome encapsulated Trade Name:

Orphan Indication: To prevent cutaneous neoplasms and other skin abnormalities in xeroderma pigmentosum.
Sponsor: AGI Dermatics Contact: Mr. Jonathan Klein
Address: Freeport, NY Phone: (516) 868-9026 Fax: (516) 868-9143
Status: Designated Designation Date: 27-Jun-89 Marketing Approval Date:

Generic Name: Tacrolimus Trade Name: Prograf

Orphan Indication: Prophylaxis of graft-versus-host-disease.
Sponsor: Fujisawa USA, Inc. Contact: Dr. Jerry Johnson
Address: Deerfield, IL Phone: (847) 317-8800 Fax: (847) 317-7286
Status: Designated Designation Date: 06-Apr-98 Marketing Approval Date:
185
Generic Name: TAK-603 Trade Name:
Orphan Indication: Treatment of Crohn's disease.
Sponsor: Tap Holdings Inc. Contact: Ms. Marilyn Bergland
Address: Deerfield, IL Phone: (847) 236-2366 Fax: (847) 317-5795
Status: Designated/Withdrawn Designation Date: 13-May-98 Marketing Approval Date:

Generic Name: Technetium Tc-99m pterotetramide Trade Name:

Orphan Indication: For the identification of ovarian carcinomas.
Sponsor: Endocyte, Inc. Contact: Mr. P. Ron Ellis
Address: Lafayette, IN Phone: (765) 463-7175 Fax:
Status: Designated Designation Date: 16-Feb-00 Marketing Approval Date:

Generic Name: Technetium Tc-99m anti-melanoma murine monoclonal antibody Trade Name: Oncotrac Melanoma Imaging Kit
Orphan Indication: For use in detecting, by imaging, metastases of malignant melanoma.
Sponsor: NeoRx Corporation Contact: Ms. Becky Bottino
Address: Seattle, WA Phone: (206) 286-2516 Fax: (206) 284-7112
Status: Designated/Withdrawn Designation Date: 02-Jun-87 Marketing Approval Date:

Generic Name: Technetium Tc-99m murine monoclonal antibody (IgG2a) to B cell Trade Name: LymphoScan
Orphan Indication: Diagnostic imaging in the evaluation of the extent of disease in patients with histologically confirmed diagnosis of non-Hodgkin's B-cell lymphoma, acute
B-cell lymphoblastic leukemia (in children and adults), and chronic B-cell lymphocytic leukemia.
Sponsor: Immunomedics, Inc. Contact: Dr. Irene Wei
Address: Morris Plains, NJ Phone: (973) 605-8200 Fax: (973) 605-8282
Status: Designated Designation Date: 07-Apr-92 Marketing Approval Date:

Generic Name: Technetium Tc-99m murine monoclonal antibody to hCG Trade Name: Immuraid, hCG-Tc-99m
Orphan Indication: Detection of hCG producing tumors such as germ cell and trophoblastic cell tumors.
Sponsor: Immunomedics, Inc. Contact: Dr. Joseph Presslitz
Address: Morris Plains, NJ Phone: (973) 605-8200 Fax: (973) 605-8282
Status: Designated Designation Date: 07-Aug-89 Marketing Approval Date:

Generic Name: Technetium Tc-99m murine monoclonal antibody to human AFP Trade Name: AFP-Scan
Orphan Indication: Detection of alpha-fetoprotein producing germ cell tumors.
Sponsor: Immunomedics, Inc. Contact: Dr. Irene Wei
Address: Morris Plains, NJ Phone: (973) 605-8200 Fax: (973) 605-8282
Status: Designated Designation Date: 01-Aug-89 Marketing Approval Date:

Generic Name: Technetium Tc-99m murine monoclonal antibody to human alpha-fetoprotein Trade Name: Immuraid, AFP-Scan
Orphan Indication: Detection of hepatocellular carcinoma and hepatoblastoma.
Sponsor: Immunomedics, Inc. Contact: Dr. Irene Wei
Address: Morris Plains, NJ Phone: (973) 605-8200 Fax: (973) 605-8282
Status: Designated Designation Date: 01-Aug-89 Marketing Approval Date:

Generic Name: Technetium Tc-99m rh-Annexin V Trade Name: Apomate

Orphan Indication: Diagnosis or assessment of rejection status in heart, heart-lung, single lung, or bilateral lung transplants.
Sponsor: Theseus Imaging Corporation Contact: Mr. Philip Fantasia
Address: Cambridge, MA Phone: (508) 359-1300 Fax: (508) 359-9932
Status: Designated Designation Date: 03-Nov-00 Marketing Approval Date:

Generic Name: Temoporfin Trade Name: Foscan

Orphan Indication: Palliative treatment of recurrent, refractory or second primary squamous cell carcinomas of the head and neck in patients considered to be incurable with
surgery or radiotherapy.
Sponsor: Scotia Pharmaceuticals Ltd. Contact: Mr. Frank Sasinowski
Address: Scotland FK9 4TZ, GB Phone: 2027374287 Fax: (202) 737-9329
Status: Designated Designation Date: 28-Oct-99 Marketing Approval Date:

Generic Name: Temozolomide Trade Name: Temodar

Orphan Indication: 1). Treatment of recurrent malignant glioma. 2). Treatment of advanced metastatic melanoma.
Sponsor: Schering-Plough Research Institute Contact: Dr. Joseph Lamendola
Address: Kenilworth, NJ Phone: (908) 298-2628 Fax:
Status: Designated/Approved Designation Date: 05-Oct-98(1), 14-Oct-98(2) Marketing Approval Date: 11-Aug-99(1),

Generic Name: Teniposide Trade Name: Vumon for injection

Orphan Indication: Treatment of refractory childhood acute lymphocytic leukemia.
Sponsor: Bristol-Myers Squibb Pharmaceutical Research Contact: Dr. Douglas Kriesel Institute
Address: Wallingford, CT Phone: (203) 284-6051 Fax:
Status: Designated/Approved Designation Date: 01-Nov-84 Marketing Approval Date: 14-Jul-92

Generic Name: Teriparatide Trade Name: Parathar

Orphan Indication: Diagnostic agent to assist in establishing the diagnosis in patients presenting with clinical and laboratory evidence of hypocalcemia due to either
hypoparathyroidism or pseudohypoparathyroidism.
Sponsor: Rhone-Poulenc Rorer Pharmaceuticals, Inc. Contact: Dr. Thomas Donnelly
Address: Collegeville, PA Phone: (610) 454-3023 Fax:
Status: Designated/Approved Designation Date: 09-Jan-87 Marketing Approval Date: 23-Dec-87

Generic Name: Teriparatide Trade Name: Parathar

Orphan Indication: Treatment of idiopathic osteoporosis.
Sponsor: Henri Beaufour Institute USA, Inc. Contact: Mr. Steven Scott
Address: Milford, MA Phone: (508) 478-0144 Fax: (508) 473-3531
Status: Designated Designation Date: 28-Oct-99 Marketing Approval Date:

186
Generic Name: Terlipressin Trade Name: Glypressin
Orphan Indication: Treatment of bleeding esophageal varices.
Sponsor: Ferring Laboratories, Inc. Contact: Mr. Isidoro Nudelman
Address: Suffern, NY Phone: (888) 793-6367 Fax:
Status: Designated Designation Date: 06-Mar-86 Marketing Approval Date:

Generic Name: Testosterone Trade Name: TheraDerm Testosterone Transdermal System

Orphan Indication: For use as physiologic testosterone replacement in androgen deficient HIV+ patients with an associated weight loss.
Sponsor: Watson Laboratories Contact: Ms. Dorothy Frank
Address: Salt Lake City, UT Phone: (801) 588-6200 Fax: (801) 583-8135
Status: Designated Designation Date: 22-Sep-97 Marketing Approval Date:

Generic Name: Testosterone Trade Name: Androgel

Orphan Indication: Treatment of weight loss in AIDS patients with HIV-associated wasting.
Sponsor: Unimed Pharmaceuticals, Inc. Contact: Judy Athey
Address: fDeerfield, IL Phone: 8472825423 Fax: 8473748480
Status: Designated Designation Date: 05-Feb-96 Marketing Approval Date:

Generic Name: Testosterone propionate ointment 2% Trade Name:

Orphan Indication: Treatment of vulvar dystrophies.
Sponsor: Star Pharmaceuticals, Inc. Contact: Mr. Scott Davidson
Address: Pompano Beach, FL Phone: (954) 971-9704 Fax:
Status: Designated Designation Date: 31-Jul-91 Marketing Approval Date:

Generic Name: Testosterone sublingual Trade Name:

Orphan Indication: Treatment of constitutional delay of growth and puberty in boys.
Sponsor: Bio-Technology General Corp. Contact: Mr. Briti Kundu
Address: Iselin, NJ Phone: (732) 632-8800 Fax: (732) 632-8844
Status: Designated/Withdrawn Designation Date: 16-Jan-91 Marketing Approval Date:

Generic Name: Tetrabenazine Trade Name:

Orphan Indication: 1). Treatment of moderate/severe tardive dyskinesia. 2). Treatment of Huntington's disease.
Sponsor: Lifehealth Limited Contact: Mr. Robert Rosen
Address: NE28 9NX, UK Phone: (415) 332-6753 Fax: (415) 332-6751
Status: Designated Designation Date: 12-May-98(1), 11-Dec-97(2) Marketing Approval Date:

Generic Name: Tetraiodothyroacetic acid Trade Name:

Orphan Indication: Suppression of thyroid stimulating hormone in patients with well-differentiated cancer of the thyroid gland.
Sponsor: Danforth, Jr., MD, Elliot Contact: Dr. Elliot Danforth, Jr.
Address: Underhill, VT Phone: (802) 899-2349 Fax:
Status: Designated Designation Date: 01-May-00 Marketing Approval Date:

Generic Name: Thalidomide Trade Name:

Orphan Indication: Treatment of graft versus host disease.
Sponsor: Andrulis Research Corporation Contact: Dr. Murray Drulak
Address: Beltsville, MD Phone: (301) 419-2400 Fax:
Status: Designated Designation Date: 05-Mar-90 Marketing Approval Date:

Generic Name: Thalidomide Trade Name: Thalomid

Orphan Indication: 1). Treatment of Kaposi's sarcoma. 2). Treatment of primary brain malignancies. 3). Treatment of multiple myeloma. 4). Treatment of
severe recurrent aphthous stomatitis in severely, terminally immunocompromised patients. 5). Treatment of erythema nodosum leprosum. 6). Treatment of Crohn's
disease. 7). Treatment of the clinical manifestations of mycobacterial infection caused by Mycobacterium tuberculosis and non-tuberculous mycobacteria.
Sponsor: Celgene Corporation Contact: Dr. Steve Thomas
Address: Warren, NJ Phone: (732) 805-3914 Fax: (908) 271-4184
Status: Designated Designation Date: 29-Jul-98(1), 27-Feb-98(2), 14-Oct-98(3), 01-May-95(4), 26-Jul-95(5), 06-Apr-99(6), 12-Jan-93 Marketing Approval Date:
16-Jul-98(5)

Generic Name: Thalidomide Trade Name: Synovir

Orphan Indication: Treatment of HIV-associated wasting syndrome.
Sponsor: Celgene Corporation Contact: Dr. Steve Thomas
Address: Warren, NJ Phone: (732) 805-3914 Fax: (732) 271-4184
Status: Designated Designation Date: 11-Mar-96 Marketing Approval Date:

Generic Name: Thalidomide Trade Name:

Orphan Indication: 1). Prevention of graft versus host disease. 2). Treatment and prevention of recurrent aphthous ulcers in severely, terminally
immunocompromised patients.
Sponsor: Andrulis Research Corporation Contact: Dr. Murray Drulak
Address: Beltsville, MD Phone: (301) 419-2400 Fax:
Status: Designated Designation Date: 05-Mar-90(1), 15-May-95(2) Marketing Approval Date:

Generic Name: Thalidomide Trade Name:

Orphan Indication: 1). Treatment and maintenance of reactional lepromatous leprosy. 2). Prevention of graft versus host disease in patients receiving bone marrow
transplantation. 3). Treatment of graft versus host disease in patients receiving bone marrow transplantation.
Sponsor: Pediatric Pharmaceuticals, Inc. Contact: Mr. R.C. Stites
Address: Westfield, NJ Phone: (908) 225-0989 Fax:
Status: Designated Designation Date: 15-Nov-88(1), 19-Sep-88(2, 3) Marketing Approval Date:

Generic Name: Thymalfasin Trade Name: Zadaxin

Orphan Indication: 1). Treatment of DiGeorge anomaly with immune defects. 2). Treatment of hepatocellular carcinoma. 3). Treatment of chronic active hepatitis B.
Sponsor: SciClone Pharmaceuticals, Inc. Contact: Mr. David Wilgus
Address: San Mateo, CA Phone: 6503583456 Fax: (650) 358-3469
187
Status: Designated Designation Date: 08-Jan-98(1), 06-Mar-00(2), 03-May-91(3) Marketing Approval Date:

Generic Name: Thymoxamine HCl Trade Name:

Orphan Indication: Reversal of phenylephrine-induced mydriasis in patients who have narrow anterior angles and are at risk of developing an acute attack of angle-closure
glaucoma following mydriasis.
Sponsor: Iolab Pharmaceuticals Contact: Susan Caballa
Address: Claremont, CA Phone: (714) 399-1278 Fax:
Status: Designated/Withdrawn Designation Date: 16-Nov-87 Marketing Approval Date:

Generic Name: Thyrotropin alpha Trade Name: Thyrogen

Orphan Indication: As an adjunct in the diagnosis of thyroid cancer.
Sponsor: Genzyme Corporation Contact: Ms. Allison Lawton
Address: Cambridge, MA Phone: (617) 252-7500 Fax: (617) 252-7600
Status: Designated/Approved Designation Date: 24-Feb-92 Marketing Approval Date: 30-Nov-98

Generic Name: Tiapride Trade Name:

Orphan Indication: Treatment of Tourette's syndrome.
Sponsor: Sanofi-Synthelabo, Inc. Contact: Dr. Debra Gayda
Address: Malvern, PA Phone: (610) 889-8645 Fax: (610) 889-6993
Status: Designated/Withdrawn Designation Date: 21-Apr-98 Marketing Approval Date:

Generic Name: Tiazofurin (2-Beta-D-ribofuranosyl-4-thiazolecarboxamide) Trade Name:

Orphan Indication: Chronic myelogenous leukemia (CML)
Sponsor: ICN Pharmaceuticals, Inc. (ICN) Contact: Dr. Jane Fang
Address: Costa Mesa, CA Phone: 8005485100 Fax:
Status: Designated Designation Date: 27-Dec-00 Marketing Approval Date:

Generic Name: Tiopronin Trade Name: Thiola

Orphan Indication: Prevention of cystine nephrolithiasis in patients with homozygous cystinuria.
Sponsor: Pak, Charles Y.C. M.D. Contact: Dr. Charles Y.C. Pak
Address: Dallas, TX Phone: 6214) 688-2100 Fax:
Status: Designated/Approved Designation Date: 17-Jan-86 Marketing Approval Date: 11-Aug-88

Generic Name: Tiratricol Trade Name: Triacana

Orphan Indication: For use in combination with levo-thyroxine to suppress thyroid stimulating hormone in patients with well-differentiated thyroid cancer who are intolerant to
adequate doses of levo-thyroxine alone.
Sponsor: Laphal Laboratoires Contact: Ms. Valerie Laigle
Address: France, FR Phone: ( ) - Fax:
Status: Designated Designation Date: 13-Aug-91 Marketing Approval Date:

Generic Name: Tizanidine HCl Trade Name: Zanaflex

Orphan Indication: Treatment of spasticity associated with multiple sclerosis and spinal cord injury.
Sponsor: Athena Neurosciences, Inc. Contact: Ms. Kathleen Dumas
Address: South San Francisco, CA Phone: (415) 877-0900 Fax: (415) 877-8370
Status: Designated Designation Date: 31-Jan-94 Marketing Approval Date:

Generic Name: Tobramycin Trade Name: Tobi

Orphan Indication: 1). Treatment of bronchiectasis patients infected with Pseudomonas aeruginosa. 2). Treatment of bronchopulmonary infections of Pseudomonas
aeruginosa in cystic fibrosis patients.
Sponsor: PathoGenesis Corporation Contact: Dr. William Pitlick
Address: Seattle, WA Phone: (206) 270-3319 Fax: (206) 282-5065
Status: Designated Designation Date: 18-Jun-99(1), 13-Oct-94(2) Marketing Approval Date: 22-Dec-97(2)

Generic Name: Tocophersolan oral solution (vitamin E-tpgs) Trade Name:

Orphan Indication: Treatment of vitamin E deficiency resulting from malabsorption due to prolonged cholestatic hepatobiliary disease.
Sponsor: Sterling Winthrop Contact: Linda Harver
Address: Malvern, PA Phone: (215) 889-8600 Fax:
Status: Designated/Withdrawn Designation Date: 15-Apr-88 Marketing Approval Date:

Generic Name: Topiramate Trade Name: Topamax

Orphan Indication: Treatment of Lennox-Gastaut syndrome.
Sponsor: R. W. Johnson Pharmaceutical Research Institute Contact: Ms. Catherine Glamkowski
Address: Raritan, NJ Phone: (908) 704-5360 Fax:
Status: Designated Designation Date: 25-Nov-92 Marketing Approval Date:

Generic Name: Toremifene Trade Name: Fareston

Orphan Indication: 1). Hormonal therapy of metastatic carcinoma of the breast. 2). Treatment of desmoid tumors.
Sponsor: Orion Corporation Contact: Dr. Daniel Azarnoff
Address: Finland, Phone: (415) 340-8222 Fax:
Status: Designated/Approved Designation Date: 19-Sep-91(1), 17-Aug-93(2) Marketing Approval Date: 29-May-97(1),

Generic Name: Tositumomab and iodine I 131 tositumomab Trade Name: Bexxar
Orphan Indication: Treatment of non-Hodgkin's B-cell lymphoma.
Sponsor: Coulter Pharmaceutical, Inc. Contact: Ms. Patricia Oto
Address: Palo Alto, CA Phone: (650) 553-1917 Fax: (650) 553-1910
Status: Designated Designation Date: 16-May-94 Marketing Approval Date:

Generic Name: Tranexamic acid Trade Name: Cyklokapron

Orphan Indication: 1). Treatment of patients with congenital coagulopathies who are undergoing surgical procedures (e.g. dental extractions). 2). Treatment of patients
undergoing prostatectomy where there is hemorrhage or risk of hemorrhage as a result of increased fibrinolysis or fibrinogenolysis.
Sponsor: Pharmacia Inc. Contact: Mr. Robert Watson
Address: Columbus, OH Phone: (614) 764-8100 Fax:
188
Status: Designated/Approved/With Designation Date: 29-Oct-85(1), 23-Jul-87(2) Marketing Approval Date: 30-Dec-86 drawn(1)

Generic Name: Tranexamic acid Trade Name: Cyklokapron

Orphan Indication: Treatment of hereditary angioneurotic edema.
Sponsor: Pharmacia Inc. Contact: Mr. Robert Watson
Address: Columbus, OH Phone: (614) 764-8100 Fax:
Status: Designated/Withdrawn Designation Date: 09-Sep-85 Marketing Approval Date:

Generic Name: Transforming growth factor-beta 2 Trade Name:

Orphan Indication: Treatment of full thickness macular holes.
Sponsor: Celtrix Pharmaceuticals, Inc. Contact: Dr. Meggi Raeder
Address: Santa Clara, CA Phone: (408) 450-4724 Fax:
Status: Designated Designation Date: 18-Dec-92 Marketing Approval Date:

Generic Name: Transgenic human alpha 1 antitrypsin Trade Name:

Orphan Indication: 1). Treatment of cystic fibrosis. 2). Treatment of emphysema secondary to alpha 1 antitrypsin deficiency.
Sponsor: PPL Therapeutics (Scotland) Limited Contact: Dr. Julian Cooper
Address: EH25 9PP Scotland, GB Phone: (540) 961-5559 Fax: (540) 961-7958
Status: Designated Designation Date: 06-Mar-98(1), 19-May-99(2) Marketing Approval Date:

Generic Name: Trastuzumab Trade Name: Herceptin

Orphan Indication: Treatment of patients with pancreatic cancer that overexpress p185HER2.
Sponsor: Genentech, Inc. Contact: Dr. Robert Garnick
Address: South San Francisco, CA Phone: (650) 225-1201 Fax: (650) 225-6000
Status: Designated Designation Date: 14-Dec-99 Marketing Approval Date:

Generic Name: Treosulfan Trade Name: Ovastat

Orphan Indication: Treatment of ovarian cancer.
Sponsor: Medac GmbH Contact: Mr. Thomas Becze
Address: Germany, DE Phone: (609) 737-3131 Fax:
Status: Designated Designation Date: 16-May-94 Marketing Approval Date:

Generic Name: Tretinoin Trade Name:

Orphan Indication: Treatment of squamous metaplasia of the ocular surface epithelia (conjunctiva and/or cornea) with mucous deficiency and keratinization.
Sponsor: Hannan Ophthalmic Marketing Services, Inc Contact: Mr. James Hannan
Address: Marshfield, MA Phone: (781) 834-8111 Fax: (781) 834-3917
Status: Designated Designation Date: 15-Apr-85 Marketing Approval Date:

Generic Name: Tretinoin Trade Name: Vesanoid

Orphan Indication: Treatment of acute promyelocytic leukemia.
Sponsor: Hoffmann-La Roche, Inc. Contact: Dr. David Parkinson
Address: Nutley, NJ Phone: (201) 496-8798 Fax:
Status: Designated/Approved Designation Date: 24-Oct-90 Marketing Approval Date: 22-Nov-95

Generic Name: Tretinoin Trade Name: Atragen

Orphan Indication: Treatment of acute and chronic leukemia.
Sponsor: Aronex Pharmaceuticals, Inc. Contact: Ms. Helene Marshall
Address: The Woodlands, TX Phone: (281) 367-1666 Fax: (281) 367-1676
Status: Designated Designation Date: 14-Jan-93 Marketing Approval Date:

Generic Name: Trientine HCl Trade Name: Syprine

Orphan Indication: Treatment of patients with Wilson's disease who are intolerant, or inadequately responsive to penicillamine.
Sponsor: Merck Sharp & Dohme Research Contact: Dr. Robert Zeldin
Address: West Point, PA Phone: (610) 397-3149 Fax:
Status: Designated/Approved Designation Date: 24-Dec-84 Marketing Approval Date: 08-Nov-85

Generic Name: Trimetrexate Trade Name: Neutrexin

Orphan Indication: Treatment of metastatic osteogenic sarcoma.
Sponsor: Medimmune Oncology, Inc. Contact: Ms. Eve Damiano
Address: West Conshohocken, PA Phone: (610) 832-4580 Fax: (610) 832-4571
Status: Designated Designation Date: 10-Aug-00 Marketing Approval Date:

Generic Name: Trimetrexate glucuronate Trade Name: Neutrexin

Orphan Indication: 1). Treatment of pancreatic adenocarcinoma. 2). Treatment of metastatic carcinoma of the head and neck (i.e. buccal cavity, pharynx, and larynx).
3). Treatment of metastatic colorectal adenocarcinoma. 4). Treatment of patients with advanced non-small cell carcinoma of the lung. 5). Treatment of
Pneumocystis carinii pneumonia in AIDS patients.
Sponsor: Medimmune Oncology, Inc. Contact: Ms. Eve Damiano
Address: West Conshohocken, PA Phone: (610) 832-4580 Fax: (610) 832-4571
Status: Designated Designation Date: 25-Jul-85(1), 25-Jul-85(2, 3), 13-Jan-88(4), 15-May-86(5) Marketing Approval Date: 17-Dec-93(5)

Generic Name: Triptorelin pamoate Trade Name: Decapeptyl Injection

Orphan Indication: For use in the palliative treatment of advanced ovarian carcinoma of epithelial origin.
Sponsor: Debio R.A. Inc. Contact: Peter Kostopoulous
Address: Mclean, VA Phone: (703) 749-1029 Fax:
Status: Designated/Withdrawn Designation Date: 10-Aug-90 Marketing Approval Date:

Generic Name: Trisaccharides A and B Trade Name: Biosynject

Orphan Indication: 1). For use in ABO-incompatible solid organ transplantation, including kidney, heart, liver and pancreas. 2). Prevention of ABO medical hemolytic
reactions arising from ABO-incompatible bone marrow transplantation. 3). Treatment of moderate to very severe clinical forms of transfusion reactions arising from
ABO incompatible transfusions of blood, blood products, and blood derivatives. 4). Treatment of moderate to severe clinical forms of hemolytic disease of the
newborn arising from placental transfer of antibodies against blood group substances A and B.
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Sponsor: Chembiomed, Ltd. Contact: Dr. G.H. Worsley
Address: Canada T6H 4NP, CA Phone: (403) 450-6800 Fax:
Status: Designated Designation Date: 20-Apr-87(1), 15-Apr-88(2), 03-Aug-87(3), 12-Apr-87(4) Marketing Approval Date:

Generic Name: Trisodium citrate concentration Trade Name: Hemocitrate

Orphan Indication: For use in leukapheresis procedures.
Sponsor: Hemotec Medical Products, Inc. Contact: Dr. Vincent DiSpigno
Address: Johnston, RI Phone: (401) 934-2571 Fax:
Status: Designated Designation Date: 15-Jun-95 Marketing Approval Date:

Generic Name: Troleandomycin Trade Name:

Orphan Indication: Treatment of severe steroid-requiring asthma.
Sponsor: Szefler, Stanley M. M.D. Contact: Dr. Stanley Szefler
Address: Denver, CO Phone: (303) 388-4461 Fax:
Status: Designated Designation Date: 21-Sep-89 Marketing Approval Date:

Generic Name: Tumor necrosis factor-binding protein 1 Trade Name:

Orphan Indication: Treatment of symptomatic patients with AIDS including all patients with CD4 counts less than 200 cells per mm3.
Sponsor: Serono Laboratories, Inc. Contact: Ms. Pamela Williamson Joyce
Address: Norwell, MA Phone: (800) 283-8088 Fax: (781) 871-6754
Status: Designated Designation Date: 06-Jan-93 Marketing Approval Date:

Generic Name: Tumor necrosis factor-binding protein II Trade Name:

Orphan Indication: Treatment of symptomatic patients with the AIDS including all patients with CD4 T-cell counts less than 200 cells per mm3.
Sponsor: Serono Laboratories, Inc. Contact: Mr. Dennis Bucceri
Address: Norwell, MA Phone: (800) 283-8088 Fax: (781) 871-6754
Status: Designated Designation Date: 06-Jan-93 Marketing Approval Date:

Generic Name: Tyloxapol Trade Name: Supervent

Orphan Indication: Treatment of cystic fibrosis.
Sponsor: Kennedy & Hoidal, M.D.'s Contact: Dr. Thomas Kennedy
Address: Salt Lake City, UT Phone: (801) 581-7806 Fax: (801) 585-3355
Status: Designated Designation Date: 08-Mar-95 Marketing Approval Date:

Generic Name: Ubiquinone Trade Name: Ubiqgel

Orphan Indication: Treatment of mitochondrial cytopathies.
Sponsor: Gel-Tec, Division of Tishcon Corp. Contact: Mr. Raj Chopra
Address: Westbury, NY Phone: (516) 333-3050 Fax: (516) 997-1052
Status: Designated Designation Date: 14-Dec-99 Marketing Approval Date:

Generic Name: Unconjugated Chimeric (human-murine) G250 IgG monoclonal antibody Trade Name:
Orphan Indication: Treatment of renal cell carcinoma.
Sponsor: Wilex Biotechnology GmbH Contact: Dr. MaryJane Rafii
Address: Germany, DE Phone: 2124501536 Fax: 2124501535
Status: Designated Designation Date: 22-Mar-01 Marketing Approval Date:

Generic Name: Uridine 5'-triphosphate Trade Name:

Orphan Indication: 1). Treatment of cystic fibrosis. 2). To facilitate the removal of lung secretions in the treatment of patients with primary ciliary dyskinesia.
Sponsor: Inspire Pharmaceuticals, Inc. Contact: Ms. JoAnn Gorden
Address: Durham, NC Phone: (919) 941-9777 Fax: (919) 941-9797
Status: Designated/Withdrawn Designation Date: 04-Dec-95(1), 26-Jun-96(2) Marketing Approval Date:

Generic Name: Urofollitropin Trade Name: Fertinex

Orphan Indication: For the initiation and re-initiation of spermatogenesis in adult males with reproductive failure due to hypothalamic or pituitary dysfunction,
hypogonadotropic hypogonadism.
Sponsor: Serono Laboratories, Inc. Contact: Mr. Dennis Bucceri
Address: Norwell, MA Phone: (800) 283-8088 Fax: (781) 871-6754
Status: Designated Designation Date: 05-Dec-97 Marketing Approval Date:

Generic Name: Urofollitropin Trade Name: Metrodin

Orphan Indication: For induction of ovulation in patients with polycystic ovarian disease who have an elevated LH/FSH ratio and who have failed to respond to adequate
clomiphene citrate therapy.
Sponsor: Serono Laboratories, Inc. Contact: Mr. Thomas Lang
Address: Norwell, MA Phone: (617) 982-9000 Fax: (617) 871-6754
Status: Designated/Approved Designation Date: 25-Nov-87 Marketing Approval Date: 18-Sep-86

Generic Name: Urogastrone Trade Name:

Orphan Indication: For acceleration of corneal epithelial regeneration and healing of stromal incisions from corneal transplant surgery.
Sponsor: Chiron Vision Contact: Mr. Mark Stavro
Address: Claremont, CA Phone: (909) 399-1343 Fax:
Status: Designated Designation Date: 01-Nov-84 Marketing Approval Date:

Generic Name: Ursodiol Trade Name: Actigall

Orphan Indication: Management of the clinical signs and symptoms associated with primary biliary cirrhosis.
Sponsor: Novartis Pharmaceuticals Corporation Contact: Mr. Robert Miranda
Address: East Hanover, NJ Phone: (908) 277-5744 Fax:
Status: Designated/Withdrawn Designation Date: 19-Feb-91 Marketing Approval Date:

Generic Name: Ursodiol Trade Name: URSO

Orphan Indication: Treatment of patients with primary biliary cirrhosis.
Sponsor: Axcan Pharma Inc. Contact: Ms. Quyen Vinh
Address: Canada, CA Phone: 4504675138 Fax: (514) 669-5161
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Status: Designated/Approved Designation Date: 20-Jun-91 Marketing Approval Date: 10-Dec-97

Generic Name: Valine, isoleucine and leucine Trade Name: VIL

Orphan Indication: Treatment of hyperphenylalaninemia.
Sponsor: Leas Research Products Contact: Ms. Terri Shawhan
Address: North Haven, CT Phone: (203) 239-2021 Fax: (203) 288-8411
Status: Designated Designation Date: 05-Jan-96 Marketing Approval Date:

Generic Name: Valrubicin Trade Name: Valstar

Orphan Indication: Treatment of carcinoma in situ of the urinary bladder.
Sponsor: Anthra Pharmaceuticals, Inc. Contact: Ms. Susan Olinger
Address: Princeton, NJ Phone: (609) 514-1060 Fax: 6095141360
Status: Designated/Approved Designation Date: 23-May-94 Marketing Approval Date: 25-Sep-98

Generic Name: Vapreotide Trade Name: Octastatin

Orphan Indication: 1). Treatment of esophageal variceal hemorrhage patients with portal hypertension. 2). Prevention of early postoperative complications following
pancreatic resection. 3). Treatment of gastrointestinal and pancreatic fistulas.
Sponsor: Debiopharm S.A. Contact: Dr. J. Kay Noel
Address: Switzerland, CH Phone: (510) 525-4250 Fax: (510) 528-0374
Status: Designated Designation Date: 10-Jan-00(1), 06-Mar-00(2), 10-Jan-00(3) Marketing Approval Date:

Generic Name: Vasoactive intestinal peptide Trade Name:

Orphan Indication: Treatment of Acute Respiratory Distress Syndrome.
Sponsor: Sami I. Said, M.D. Contact: Dr. Sami Said
Address: Stony Brook, NY Phone: 6314441754 Fax:
Status: Designated Designation Date: 09-Mar-01 Marketing Approval Date:

Generic Name: Vasoactive intestinal polypeptide Trade Name:

Orphan Indication: Treatment of acute esophageal food impaction.
Sponsor: Research Triangle Pharmaceuticals Contact: Dr. David Shoemaker
Address: Durham, NC Phone: (919) 361-2286 Fax: (919) 361-2290
Status: Designated Designation Date: 23-Jun-93 Marketing Approval Date:

Generic Name: vigabatrin Trade Name: Sabril

Orphan Indication: Treatment of infantile spasms.
Sponsor: Aventis Pharmaceuticals Inc. Contact: Ms. M. Lorie Stewart
Address: Kansas City, MO Phone: (816) 767-6605 Fax: (816) 767-7369
Status: Designated Designation Date: 12-Jun-00 Marketing Approval Date:

Generic Name: Viloxazine HCl Trade Name: Catatrol

Orphan Indication: 1). Treatment of cataplexy. 2). Treatment of narcolepsy.
Sponsor: Stuart Pharmaceuticals Contact:
Address: Wilmington, DE Phone: Fax:
Status: Designated/Withdrawn Designation Date: 11-Jun-84(1, 2) Marketing Approval Date:

Generic Name: Virulizin Trade Name: Virulizin

Orphan Indication: Treatment of pancreatic cancer.
Sponsor: Lorus Therapeutics Inc. Contact: Ms. Anne Tomalin
Address: Canada, Phone: 8478378824 Fax: 8478278825
Status: Designated Designation Date: 01-Feb-01 Marketing Approval Date:

Generic Name: Xenogeneic hepatocytes Trade Name: HepatAssist Liver Assist System
Orphan Indication: Treatment of severe liver failure.
Sponsor: Circe Biomedical, Inc. Contact: Ms. Zorina Pitkin
Address: Lexington, MA Phone: (781) 863-8720 Fax: (781) 863-6140
Status: Designated Designation Date: 27-Nov-98 Marketing Approval Date:

Generic Name: Yttrium-90 radiolabeled humanized monoclonal anti-carcinoembroyonic antigen IgG antibody Trade Name: Cea-Cide
Orphan Indication: Treatment of ovarian carcinoma.
Sponsor: Immunomedics, Inc. Contact: Dr. Nabila Turjman
Address: Morris Plains, NJ Phone: (973) 605-8200 Fax: (973) 605-1103
Status: Designated Designation Date: 03-Aug-99 Marketing Approval Date:

Generic Name: Zalcitabine Trade Name:

Orphan Indication: Treatment of AIDS.
Sponsor: National Cancer Institute, DCT Contact: Dr. Jay Greenblatt
Address: Bethesda, MD Phone: (301) 496-7912 Fax:
Status: Designated Designation Date: 09-Dec-86 Marketing Approval Date:

Generic Name: Zalcitabine Trade Name: Hivid

Orphan Indication: Treatment of AIDS.
Sponsor: Hoffmann-La Roche, Inc. Contact: Ms. Lisa Luther
Address: Nutley, NJ Phone: (201) 235-4135 Fax:
Status: Designated/Approved Designation Date: 28-Jun-88 Marketing Approval Date: 19-Jun-92

Generic Name: Zidovudine Trade Name: Retrovir

Orphan Indication: 1). Treatment of AIDS. 2). Treatment of AIDS related complex.
Sponsor: Glaxo Wellcome Inc. Contact: Dr. Michael Dalton
Address: Research Triangle Park, NC Phone: (919) 483-2100 Fax:
Status: Designated/Approved Designation Date: 17-Jul-85(1), 12-May-87(2) Marketing Approval Date: 19-Mar-87(1), 19-Mar-87(2)

Generic Name: Zinc acetate Trade Name: Galzin

191
Orphan Indication: Treatment of Wilson's disease.
Sponsor: Lemmon Company Contact: Ms. Deborah Jaskot
Address: Kulpsville, PA Phone: (215) 256-8400 Fax: (215) 721-8796
Status: Designated/Approved Designation Date: 06-Nov-85 Marketing Approval Date: 28-Jan-97

Generic Name: Zoledronate Trade Name: Zometa, Zabel

Orphan Indication: Treatment of tumor induced hypercalcemia.
Sponsor: Novartis Pharmaceuticals Corp. Contact: Ms. Ellen Cutler
Address: East Hanover, NJ Phone: (973) 781-8180 Fax: (973) 781-6325
Status: Designated Designation Date: 18-Aug-00 Marketing Approval Date:

[References ]
Childes B & Vaalle D. Genetics, biology and disease. Annu Rev Genomics Hum Genet. 1: 1-19, 2000
Jimenez-Sanchez G, Childs G & Valle D. in the Metabolic and Molecular Bases of Inherited Disease.( 7th eds Scriver CR, Beaudet AL, Sly
WS & valle D ). McGraaw-Hill, New York ,2001
Antonarakis SE & McKusick VA. OMIM passes the 1,000 disease gene mark. Nature Genet 25: 11, 2000
Human diseases and their associated genes http ://www.ncbi.nlm.nih.gov
List of orphan drugs http://www.fda.gov/orphan/designat/list.htm

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