Inherited Human Diseases

Name
Fragile X Syndrome

Page One Symptoms

Developmental delay Hyperactivity Speech delay, perseverative speech Poor gross motor coordination Sterotypies, e.g., talking to self,spinning,hand flapping Gaze aversion Seizures

Cause
Genetic anomaly, labeled FMR1, on X chromosome at Xq27.3, the same position as the fragile site

Treatments
Psychosocial support Genetic counseling Regular well-child exams Enroll in early intervention Speech/language therapy Sensory/motor therapy Appropriate educational support

Results
Early intervention with help to develop to their full potential. Will depend on how affected they are by this syndrome

Turners syndrome

Nondisjunction during meiotic division Usually maternal; more than half have A mosaic chromosomal complement (45,XO/46/XX) 1:1500 to 1:2500 live births; most common sex-chromosomes anomaly affecting embryos do not survive to term

Short stature with square appearance Low hairline Chronic ear infections Learning disabilities Lack of development of secondary sexual characteristics

Klinefelter Syndrome

Maternal meiotic nondisjunction resulting in contributions of two X chromosomes to maternal zygote (ova);when over is fertilized by sperm Containing one Y chromosomes resulting embryo has klinfelter karyotype

Refer to endocrinology Growth hormone therapy beginning when growth falls below 5th percentile on normal female child growth charts Hormone,estrogen, replacement therapy beginning about 11 years of age Monitor for hypothyroidism Genetic counseling Psychological support Assistance in school for learning disabilities Referral to cardiologist Tall mate, especially at a adolescence Early intervention for leaning disorder and beyond Counseling / therapy for behavioral Slow, incomplete pubertal development disorders Behavioral and psychiatric disorders Psychosocial support for family (shy), immature, anxious, aggressive, Genetic counseling antisocial Refer to endocrinologist for Thin child,often overweight as consideration of testosterone at age 11 adolescent or12 Language impairment Screen for breast cancer Reduction mammoplasty for gynecomastia Normal development until age 3 to 6, then progressive deterioration Listlessness Muscle weakness Slow neurological development, loss of development milestone Feeding problems Frequent upper respiratory infections Apathy, irritability Seizures Deafness/blindness

Hormone therapy will help to minimize symptoms. Women can lead full productive lives.

Nearly 100% of the males are sterile. Testosterone injections can minimize symptoms and can lead full productive lives.

Tay-sachs disease

Autosomal recessive single gene disorder,deficiency of hexosaminidase A which is necessary for breakdown of ganglioside gm2; as glycoside accumulates in neurons, axons degenerate and demyelination occurs 3:10,000 live births; mainly in ashkenazic Jewish population; gene carrier frequency in U.S 1:27 among Jews and 1:380 among non-Jews

Genetic counseling Poor prognosis Primary prevention via carrier screening Early demise Secondary prevention via prenatal diagnosis elective termination of pregnancy No known treatment for underlying metabolic deficiency Psychosocial support for parents and family

Inherited Human Diseases

Name
Canavan disease

Page Two Symptoms Treatments Results

Poor prognosis Disease degeneration Early demise A family history of canavan disease Genetic counseling Decreased muscle tone (hypotonia) Symptomatic treatments especially in the neck muscles Abnormal posture with flexed arms and straight legs Feeding difficulties Nasal reguration Swallowing difficulties Reflux with vomiting Increasing head size (macrocephaly) Head lag Failure to meet milestones Seizures Severe mental retardation Blindness Death often by 18 months Family history of parent with waardenburg syndrome Externally pale blue eyes or eye colors dont match White forelock of hair or early graying hair Deafness Possible slight decrease in intellectual functioning Occasional cleft lip Constipation may occur May have difficulty with completely straitening joints Bruising at injection sights Bleeding following circumcision Excessive bruising after child begins walking Prolonged bleeding in any part of the body after child begins walking Prolonged bleeding in any part of the body Treatment for hearing disabilities Diet to decrease constipation

Cause
Canavan disease is inherited as an autosomal recessive trait and has higher incidence among ashkenazi Jews than the general population a deficient enzyme,aspartoacylase, results in the accumulation of n-acetylaspartic acid in the brain and subsequent degeneration of the white matter typical cases have onset of symptoms in the first year of life with loss of developmental milestone and death before 18 months of age

Waardenburg syndrome

Its inherited as an autosomal dominant trait; only one parent has to pass on the gene for a child to be affected75

Lead full productive lives

hemophilia

Caused by congenital deficiency of either clotting factor VIII or XI

Collaborative interdisciplinary approach Life expectancy 10 years less than facilitated by regional hemophilia average treatment center Factor replacement therapy Antifibrinolytic therapy Physical therapy Genetic counseling