Syndromes and Hearing Loss

Syndromes and Hearing Loss Clinical Practice Guideline for Audiology (this is a section of a larger Practice Guideline Cleft
t Palate, Craniofacial and Syndromic Guideline) Care Paths for these syndromes are in separate PDF files in the same place as this document was found. There are many known syndromes associated with hearing loss. Many of these have clefting and/or craniofacial anomalies, some of them dont. This list was generated by combining the BCCH Audiology Department list of syndromes and the BCEHP Late Onset Monitoring Risk Factor Syndromes. That list was then compared with those found in the Hereditary Hearing Loss and Its Syndromes and reviewed by all of the reviewers of this Guideline for completeness. This resulted in the syndromes listed below which are associated with hearing loss. A literature review was conducted using Pub Med, PEDLYNX, and OMIM databases. Search terms were (name of syndrome as listed in Appendix B AND (Audio* OR Hear*) in title or abstract, from 1999 to 2010, all languages. Citations were screened by a two reviewers for relevance. Published, peer reviewed articles were selected based on level of evidence with recently published articles describing well-designed randomised controlled trials with comparatively large sample groups taking precedence. High quality systematic reviews and retrospective reviews of clinical data were also used. Case studies of noteworthy results were occasionally noted as a matter of interest or possible focus of higher level literature to be reviewed in the future (when published), but were not considered in determining association of a syndrome with late onset SNHL. If the results of a study were inconclusive or the literature could not clearly associate a syndrome with late onset SNHL (ie. small subject pool or insufficient baseline information) such information was noted but the syndrome was labelled as not associated with late onset SNHL. Four distinct care paths were developed dependant on the level of risk assessed for late onset permanent hearing loss for syndromic children. One care path was developed specifically for Down Syndrome children. Each syndrome was assigned to one of the 4 care paths described. If age of diagnosis of the syndrome was known to be after childhood it is suggested that their care path be individualized (see Osteogenesis Imperfecta; Freidricks Ataxia; Turners, Klinefelter, Van Buchem and NF2). All of these infants will have had at least a newborn hearing screening and a 9 month Audiology assessment. The BOLDED syndromes are typically not seen through the CP/CF teams and therefore their 9 month assessment ought to be completed in their local Public Health Audiology Clinics.
SYNDROME/Description
Riskoflateonset PermanentHL? Y=Yesevidence found N=Noevidence found

N:PrimarilyCHLrelated toauricularanomalies andcleft.~1120% congenitalSNHLpossibly relatedtovascular abnormalities.Case evidenceoflabrynthine anomalies. Y:althoughprimarilyCHL relatedtoauricular anomaliesandcleftand ~1120%congenitalSNHL aswellassomecasesof LVA.Hearinglosscanbe unilateralandcanbe likelyrelatedtovascular abnormalities)aswellas somecasereportsof labyrinthineanomalies. Notenoughevidenceto determineifsignificant riskoflateonsetsnhl.
Ageof Diagnosisof Syndrome
CarePath
CleftPalate 1minimumfup 2moderatefup 3closestfup 4DownsSyndromefup 5Individualized
22Q11(VCF/DiGeorge) VelocardiofacialSyndrome Cayler,Shprintzen:typical characteristicsincludecardiac abnormality(especiallyFallot's Tetralogy),abnormalfacies, thymicaplasia,canhavecleft palate,hypocalcemiaZarchiet al,2011.Digillio,1999. Estimatedprevalence:1:4,000. ~10%cleftpalate DiGeorgesequence:cardiac defects,Thymushypoplasia and/orTcallmediated immunodeficiency,and hypocalcemiaand/orabsenceof parathyroids(partofdeletion 22q11spectrum)Digillio,1999. Erkkietal,2007.Belmontetal, 2011. Estimatedprevalence1:4,000.
Commonlyat birthduetothe congenitalheart diseaseand abnormalfacies, presentinmost allcases.Ifnot heartproblems canbelater diagnosed. Commonlyat birthduetothe congenitalheart diseaseand abnormalfacies, presentinmost allcases.Ifno heartproblems canbelater diagnosed
2 2
SyndromesandHearingLossSectionofCleftPalate/CraniofacialandSyndromicAudiologyClinical PracticeGuidelineWebsiteversionMarch26,2012 P a g e |2
CarePath
Y:BL/HFbylate Variable childhood/early dependanton adolescencefor~8090% genemutation andextentof XLmales&ARmales& females.Insome kidneyproblems mutations(i.e.AD)SNHL maynotoccuruntil adulthood. Variable Alstrmsyndrome:pigmentary Y:BL/HFprogressivelate retinopathy,diabetesmellitus, childhood/early adolescencefor~80%. andobesity.Joyetal'07, Marshalletal11 SomeincidencesofCHL& chronicOM.Symptom Estimatedprevalence <1:1,000,000ingeneral onsetusuallyininfancy, butbothonsetand population severityhighlyvariable. ApertSyndrome:FGFR2 N:36%CongenitalCHL, Atbirthor craniosynostosis,syndactylyof >56%CHL~1020yrs. prenatally DuetoOME.Persistent handsandfeet,mental retardationRajenderhumar, toadulthood. 2005.Curchetal,2007.Zhouet al,2009.Robinetal,2011. Prevalence:~1:100,000to 200,000livebirths(differing reports).
Alportsyndrome:collagen synthesisdiseasecharacterized byrenaldisease.Alveset.al, '08&Kashtan,'10

Y:BLcongenital.CHL (~50%),SNHL(~25%)& mixedHL.
CarePath
BranchioOtoRenalsyndrome: kidney,ears,andneck abnormalitiesKempermanetal, 2004.Henricusetal,2010. Kimberlingetal,2011.Huanget al,2012. Generalprevalence:1:40,000 Onsetvariable,earlychildhood toearlyadulthood.Incidencein profoundlydeafchildren:~2% *Kempermanetal:10/16cases showedsig.SNHLprogression inlongitudinalanal.Including somefluctuationassoc.with enlargedendolymphatic duct/sac. CharcotMarieTooth:inherited motorandsensoryneuropathy, nephritisPostelmans,2006. Kabzinska,2010 Incidence:~1:2500 Prevalencevariesbetween subclasses(015%).More commonforautodom.Often slowprogression.
Variable
Y:LateonsetSNHLassoc. withdemyelizationofCN VIII.
Variable, especiallyif familyhistory unknown, usuallylate childhoodor earlyadulthood.

N:HL=81%ofthose:CHL (24%),SNHLormixed (76%).ChronicOME& infectionsinCHL.
CarePath
CHARGEsyndrome:acronymfor thesetofcongenitalfeatures: Colobomaoftheeye,Heart defects,Atresiaofthenasal choanae,Retardationofgrowth and/ordevelopment,Genital and/orurinaryabnormalities, andEarabnormalitiesand deafness.Progressive/LOassoc. withLVA(19%ofSNHL).SNHL CorrelatedwithFacialpalsy (P<.025N=20)Edwardsetal, 2002.Morimotoetal,2006.. Huangetal,2012 Prevalence:1:15,000 Chondrodysplasias,e.g. AchondroplasiaSzymko Bennett,2003.Collins,2007. Pannieretal2009.Braverman etal,2010.TokgozYilmasetal. 2011. Incidence:1:15,0001:40,000 livebirths(variesbytype Achondro.mostcommon). Estimatedprevalenceof RhizomelicChondro.Punctata Type1<1:100,000.
Whilefeatures maybepresent atbirth&many arediagnosed prenatallyorin the1stfew weeks,others notuntilother diagnoseshave beenruledout.
N:CHL~50%OM& OME.Sporadicreportof SNHL,insufficientdata/ conflictingevidence.
Atbirthor prenatally
CarePath
CorneliaDelangeSyndrome(also N:highincidenceof LongQTvariant,akaBrachmann congenitalsevere DeLange):slowgrowthbefore profoundSNHL andafterbirth,severeto profoundintellectualdisability, skeletalabnormalities distinctivefacialfeatures, excessivebodyhair, microcephaly,somecleftpalate 1:10,00030,000 CrouzonSyndrome:FGFR2 craniosynostosis,maxillary hypoplasia,shalloworbits. Churchetal,2007.Karam,2011. Robinetal,2011. Prevalence:1.6:100,000 DownsSyndromeakaTrisomy 21Blaser,2006.Shott,2006. Parketal,2012 Incidence:1:600800livebirths
Typicallyatbirth
N:CHL~55%OM& StenosisorAtresia
Usually1styear
EhlersDanlossyndrome: synthesisofcollagendefects, characterizedbyhypotonia, ocularabnormalities,joint hypermobility.Miyajima,2007. Fransiska,2010Baumannetal, 2012 Estimatedprevalence1:20,000.
N:80%CHL.420%mixed Typicallyatbirth orSNHLpossibly associatedwith unresolved/untreated chronicOM,anomalies ofthecochlea,internal auditorycanalandLVA. Variabledata. N:CHLprimarilyrelated Birthorearly tootosclerosisorTM infancy immobility Evidenceofavariant associatedwithbilateral highfrequencySNHL unknownonsetage.

Y:ProgressiveSNHL (~1025%)relatedto axonaldegeneration. Onsettypicallypriorto age25. N:Cond.component (~70%)assoc.WithCleft palate. SNHLassoc.withcochlear malformation (Skarzynski:5/14) Congenital.Possible evidenceofprogressive losses(maybeLVA related) N:PrimarilyCHL.616% prevalenceSNHLrelated tocochlear&vestibular anomalies.Rateof progressive/lateonsetvs. congenitalundetermined.
CarePath
Friedreichataxia: spinocerebellar,resultingin progressivegaitataxia Delatycki,2009&Ranceetal 2010 Prevalence:24:100,000 Goldenharsyndrome: incompletedevelopmentofthe ear,nose,softpalate,lip,and mandible(partoftheoculo auriculovertebralspectrum) Bisdasetal,2005.Martellietal, 2009.Skarzynski,2009. Prevalenceestimatedtorange from1:3,5007,000livebirths.
meanonsetof gaitsymptoms between10and 15years.
5Individualized
Within1styear
Hemifacialmicrosomia: abnormaldevelopmentofthe lowerhalfoftheface,most commonlytheears,themouth andthemandible(partofthe oculoauriculovertebral spectrum)Vrabec,2010.Collett etal,2011. Incidence:1:3,5004,500.
Usuallywithin 1styear

Y:ProgressiveSNHLas earlyasage2andmore commonlyage4.CHL alsocommon.
CarePath
Huntersyndrome (mucopolysaccharidosisII):a lysosomalstoragedisease characterizedbyprogressive intellectualimpairment,death between10and15years.Rate ofprogression~1db/year. OftenwillpresentthroughENT duetoairwayandneck problems.Wold,2010. Keilmann,2011. Prevalence~1:100,000live births(affectsmainlymales).
Variableageof onset

Y:LOSNHLprogressing toprofoundcoinciding withdevelopmental delay~14yearsofage. InvolvementofCNVIIIis common.AlsoCHL,OM &infections.
CarePath
Hurlersyndrome (mucopolysaccharidosisI): lysosomalstoragedisease characterizedbycoarsefacial features,skeletal malformations,recurrentOM, hepatosplenomegaly,and macroglossia,developmental delay.Oftenwillpresent throughENTduetoairwayand neckproblems.Twobasic types(severeandattenuated). Shortenedlifespancommon (severe<age10and attenuatedvariesfrom20to normal)Gunillaetal,2008. Woldetal2010.Clarketal, 2011. Prevalence:1:100,000for severeformand1:500,000for attenuatedform. JervellandLangeNielsen syndrome:variantoflongQT syndrome(seebelow)Mohiddin etal,2004.Baig2011, Tranebjaerg,2010 Estimatedprevalence1.6: 1,000,000worldwide(higherin areaswhereconsanguineous marriageiscommonor identifiedfoundermutationis presentie.Norway,1:200,000)
noclinical presentationat birth. SevereMPSI: featureonset~1 year, AttenuatedMPS: clinicalonset fromage310 years,
N:LongQTCharacterized bybilateralcongenital profoundSNHL
Variable Halfofchildren identifiedbyage 3duetocardiac issues.

N:CHLduetochronic OM,somereportsof congenitalsnhl. N:30%SNHLorCNHL congenital
CarePath
Klinefeltersyndrome(XXY): hypogonadism,infertilityEvans etal,2000.Visootsak,2006. Prevalence1:5001,000males KlippelFeilSequence:fused cervicalvertebrae,webbed neck,canhavecleftpalate Incidence:1:40,000to50,000 livebirths. Kabuki:postnatalgrowth deficiency,onset<1st yr.craniofacialabnormalities, somehavecleftpalate,some cardiacdeficiencies.Barozzi, 2008.Matsumotoetal,2003. Wessels,2002. EstimatedPrevalence:1:32,000 livebirths LargeVestibularAqueduct Syndrome:enlargementof vestibularaqueductinthe innerearArjmand,2004. Dewanetal,2009.Santosetal, 2010.Gopenetal,2011. EstimatedPrevalenceinclinical population515%.
Laterchildhood
5Individualized
Earlyinfancy
N:32%CNHLand ongoingOME.
Typicallyage2
Y:BL(~67%)orUni (~33%).PrevalenceofL OSNHL~96%. Onsetofhearinglossis highlyvariable,ranging frombirthto adolescence.
Earlyinfancy

Y:Ageofonset& severityvarywithtype& severityofcardiac condition.Penetranceas highas50%.
CarePath
LongQTsyndrome: prolongationofQTonECG, syncope,andsuddendeath Sopontammarak,2003. Mohiddinetal,2004.Gritliet al,2010.Belmontetal,2011. Incidence1:2,500 Accountsfor~.21%ofSNHL. MeunkeCraniosynostosis FGFR3mutation,coronal craniosynostosis,fifthfinger clinodactyly,Ptosis, developmentaldelay. Agochukwuetal,2006. Honnebieretal,2008.Robinet al,2011. EstimatedPrevalence:1:30,000 livebirths. Nager:similartoTreacher Collins,micrognathia,low set,posteriorlyrotatedears, atresia,canhavecleftpalate Danzigeretal,1990.Opitz, 2003.Hermannetal,2005. Prevalenceunknown,70 publishedcases.
Variable dependanton whencardiac issuesarise
N:Typicallymild Usuallywithin1st bilateral,symmetric,low year midfrequency,SNHL congenitally.
NCHLduetomiddleand conductiveear pathology.
Variable dependanton severity

Y:IncidenceofCNVIII tumours~90%.
CarePath
NeurofibromatosisII(NF2): tumoursofthecentraland peripheralnervoussystem, includingnonmalignant vestibuloschwannomasEvans, 2009 Incidencereportsrangefrom1: 40,000to1:25,000;andthe prevalencefrom1:200,000to 1:80,000. Noonansyndrome:short stature,characteristicfacial features,hypotonia,cardiac abnormalitiesTartaglia,2009. Pierpont,2010 Estimatedprevalenceof1: 1,0002,500livebirths. Norriesyndrome:retinal detachment,oftenbornblind, possiblementalretardation Rehmetal,2002.Halpin2005& 2008 Incidence/prevalence unknown(casereportsonly)
Averageageof onset1824 yearsdependant onpenotype
5Individualized
Y:SNHL~2640%. Associatedwithtemporal bonestructural anomalies.Canalso resultinstructuralCHL& OM. Y:Xlinked.Complete penetranceofLO progressive(mild profound,assym.HF) SNHLinlate childhood/early adolescence.Stable~35 years.
Mostapparent inpreschool years
Earlychildhood
CarePath
Ohdosyndrome:mental retardation,congenitalheart disease, blepharophimosis/ptosis, hypoplasticteethAizeddinetal, 1998Whiteetal,2003Verloes etal,2006.Beckettetal,2008 Prevalence/incidencedata unavailable,literatureconsistsof casereports. Osteogenesisimperfecta: disorderoftypeIcollagen metabolismcharacterizedby bonefragilitySainzetal,2009. Marini,2010.Forlinoetal, 2011. Prevalence:1:15,00020,000
N:Sporadiccasestudy Earlychildhood reports,controversyover classification.Literature indicatesSNHLandCHL. Verylittlespecific informationonhearing assessmentavailable (includingdegree,ageof onset/diagnosis&in somecases,type) Y:SNHLormixedhearing Variable lossincludingstructural CHL&oticcapsule demineralization& dehiscence.Typically typeIII&IV.67% experiencelossofmild orgreaterby9yearsof age.SNHLin2560%of cases. Osteopetrosis:increased Y:Closureofbone Variableonset osseousdensityduetodefects foraminacausingCNVIII andseverityof compression.Canalso inosteoclasticresorption clinicalfeatures Dozieretal,2005.Fattoreetal, presentwithotosclerosis (infancyorearly 2008. andexternalauditory childhoodfor Incidenceofautosomal canalstenosis. autosomal recessiveform:1:250,000 recessiveform Incidenceofautosomal andearly dominantform:5:100,000 adulthoodfor autosomal dominantform).
5Individualized
CarePath
Pendredsyndrome:goitreand hypothyroidismLuxonetal, 2003.Huangetal,2012.Itoet al,2011. Estimatedprevalence7.510: 100,000. Pfeiffersyndrome:FGFR1/2 craniosynostosisChurchetal, 2007.Desaietal,2010.Robinet al,2011. Incidenceforallforms combinedreportedas1: 100,000. PierreRobinsequence: craniofacialabnormalitiesincl. cleftpalate.Gruen2005. Medard,1999. EstimatedPrevalence1:8500 10,000.
Y:congenitalorLO Variable 3 (devel.byage3). Progressive&some fluctuationduetoLVA andmembranous labyrinthabnormalities. Usuallyin1styear N:CHLrelatedto 1 ossicularfixation& stenosis~5070%. CongenitalMixed/SNHL ~20% N*:CHLassociatedwith Earlyinfancy CleftPalateCare middleearpathology. Path CongenitalSNHLwithPR inisolation.Associated withmanyother syndromesthatmaybe associatedwithLOSNHL. Ie.*Sticklerin~25%of PR.CasereportsofLVA
CarePath
Refsumsyndrome:phytanicacid storagediseasecharacterizedby microcephaly,severe developmentaldelay, hypotonia,hepatomegaly, retinitispigmentosaand dysmorphicfacialfeatures Bamiouetal2003.Raineetal 2008.Wandersetal,2010. Prevalenceandincidencedatais unavailablebutestimatedtobe verylow.
Y:SNHL(predominantly Variable highfrequency)related toprogressivetoxic effectsofelevated phytanicacidon peripheral nerves.Progressive,often asymmetricalhearingloss 5070%.EvidenceofCN VIIIinvolvement. Symptomonset,with retinitispigmentosa usuallythefirst symptom,rangesfrom7 monthsofageto adulthood. SaethreChotzenSyndrome: N:TypicallyCHL.Sporadic Duetoits variability,ageis craniofacialanomaliesincluding casereportsofmixedor variablecraniosynostosisLeeet SNHL.Singlecasesat alsovariable al2000.Robinetal2011. BCCHofpresumedlate 1:25,00050,000 onset. SticklersyndromeType1:flat ProgressiveSNHLin60% Oftenafter1st midface,cleftpalate,myopia Y:SNHL~4050%more yearasmyopia severe&progressivein withretinaldetachmentand notidentified cataracts,musculoskeletal type2&3.Canbe findingsRobinetal,2010. congenitalorlateonset. Francomano,2010.Szymko AlsoCHLoftenrelatedto Bennett,2001. CP. Incidence1:10,000 ~20%cleftpalate

SNHLin90% Y:SNHL~4050%more severe&progressivein type2&3.Canbe congenitalorlateonset. AlsoCHLoftenrelatedto CP.
CarePath
SticklersyndromeType2&3: flatmidface,cleftpalate, myopiawithretinaldetachment andcataracts,musculoskeletal findingsRobinetal,2010. Francomano,2010.Szymko Bennett,2001. All3types:~20%cleftpalate; 13:10.000 TreacherCollinssyndrome (mandibulofacialdysostosis): craniofacialabnormalitiesPagon etal2006 1:50,000births ~35%havecleftpalate Turnersyndrome:XOgenotype characterizedbyshortstature, infertility,renalabnormalities, chronicotitismediaVerveret al,2010 1:2000livefemales UshersyndrometypesIandII: retinitspigmentosaandvitiligo Friedmanetal2011.Jaijo2004 35:100,000 Type1constitutes90%of syndrome.
Oftenafter1st yearasmyopia notidentified
N:PermanentCHL relatedtoouter&middle earmalformation
Typicallyatbirth (sometimes prenatally)
Y:Oftenmidfrequency orhighfrequencyonset inadolescence.Differs withkaryotype. PrevalenceofSNHL varies1066%.CHL~35%. N:intypeIcongenital severetoprofoundSNHL, intypeIIusuallystable congenitallossinlow freqslopingtosevereor profoundinhigh frequencies,mayalsobe progressive.
Adolescence
5Individualized
Typically diagnosedasa resultofthe congenital hearingloss diagnosis, thereforelikely <1year
CarePath
Y:TypeIIIoftenbornwith Typically 3 normalhearing.Onsetof diagnosedasa SNHLmaybeasearlyas resultofSNHL 35orinadolescenceor afterage3 latechildhood.Continues toprogresstosevereand profoundin45thdecade oflife. OnsetofmixedandSNHL Variable,oftenin 5Individualized VanBuchemSyndrome:skull latechildhood otosclerosisfacialchangesover aroundage15 timeTwotypes:TypeI(Van Buchem'sdisease)progressive formforlifetime;TypeII (Worthdisease)thepathologic bonedepositionstopsat20 yearsofage.Thediseaseis incurable;surgicaltreatment aimstoreducetheintracranial pressureandtocorrectbones deformity. WaardenburgSyndrome:three N:TypeI:SNHLcanbeBL Typicallyator 1 types(I,IIandIII)whiteforelock, orUL.Typically nearbirth heterochromiaofirises.Rehm, congenitalhearingloss 2008.Toriello,2011 canrangefromnormalto Prevalence1:42,000 severeSNHL. TypeII:***Canbe progressive(70%).5% alsopresentwithCLP& associatedOM. TypeIII:leastlikelyto havehearingloss
UsherTypeIII Aller,2004.Friedmanetal 2011. Prevalence6%ofallUsher cases.
APPENDIX D. REFERENCES
AbreuAlves,F.DeAndradeQuintanilhaRibeiro,F.(2008).Clinicaldataandhearingofindividualswith Alportsyndrome.RevistaBrasileiradeOtorrinolaringologia.74(6):80714. Allam,K.Wan,D.Kawamoto,H.Bradley,J.Sedano,H.Saied,S.(2011).Thespectrumofmedian craniofacialdysplasia.PlasticReconstructiveSurgery.127:812. Aller,E.Jaijo,T.Oltra,S.Alio,J.Galan,F.Najera,C.Beneyto,M.Millan,JM.(2004).Mutationscreening ofUSH3gene(clarin1)inSpanishpatientswithUshersyndrome:lowprevalenceand phenotypicvariability.ClinicalGenetics.66:525529.

American Cleft Palate-Craniofacial Association. Parameters for Evaluation and Treatment of Patients with Cleft Lip/Palate or Other Craniofacial Anomalies. Official Publication of the American Cleft Platate-Craniofacial Association. Revised Edition November 2009.
Arjmand,E.M.,&Webber,A.(2004).Audiometricfindingsinchildrenwithalargevestibularaqueduct. ArchivesofOtolaryngologyHead&NeckSurgery.130(10),11691174. BaigSM,KoschakA,LiebA,GebhartM,DafingerC,NrnbergG,AliA,...(2011).LossofCa(v)1.3 (CACNA1D)functioninahumanchannelopathywithbradycardiaandcongenitaldeafness. NatureNeuroscience.14(1):7784 BamiouDE,SpraggsPR,GibberdFB,SideyMC,LuxonLM.(2003).HearinglossinadultRefsum'sdisease. ClinicalOtolaryngology&AlliedScience.28(3):22730. BarozziS,DiBerardinoF,AtzeriF,FilipponiE,CeruttiM,SelicorniA,CesaraniA.(2008).Audiologicaland vestibularfindingsinthekabukisyndrome.AmericanJournalofMedicalGenetics.149A:171 176. BaumannM,GiuntaC,KrabichlerB,RuschendorfF,ZoppiN,ColombiM,BittnerRE,...(2012). MutationsinFKBP14causeavariantofEhlersDanlossyndromewithprogressive kyphoscoliosis,myopathy,andhearingloss.TheAmericanJournalofHumanGenetics.90,201 216. Belmont,J.Craigen,W.Martinez,H.Jefferies,J.(2011).Geneticdisorderswithbothhearinglossand cardiovascularabnormalities.AdvancesinOtorhinolaryngology.70;6674. Bidichandani SI, Delatycki MB. Friedreich ataxia. (1998 [Updated 2012]). In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993. BisdasS,LenarzM,LenarzT&BeckerH.(2005).Innerearabnormalitiesinpatientswith Goldenharsyndrome. Otology&Neurotology.26:398404. SyndromesandHearingLossSectionofCleftPalate/CraniofacialandSyndromicAudiologyClinical PracticeGuidelineWebsiteversionMarch26,2012 P a g e |18
BlaserS,PropstE,MartinD,FeigenbaumA,JamesA,ShannonP&PapsinB.(2006).Innerear dysplasiaiscommoninchildrenwithdownsyndrome(trisomy21).Laryngoscope.116:2113 2119.
BravermanNE,MoserAB&SteinbergSJ.RhizomelicChondrodysplasiaPunctataType1. (2001 [Updated 2010]). In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.
ChurchMW,ParentJenkinsL,RozzelleAA,EldisFE,KazziNJ.(2007).Auditorybrainstemresponse abnormalitiesandhearinglossinchildrenwithcraniosynostosis.Pediatrics.6:119;13511360. ClarkeLA,HeppnerJ.MucopolysacchyridosisType1.(2002 [Updated 2011]). In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. CollettBR,SpeltzML,CloonanYK,LerouxBG,KellyJP,WerlerMM.(2011).Neurodevelopmental outcomesinchildrenwithhemifacialmicrosomia.165(2):134140. Collins,W.Choi,S.(2007).Otolaryngologicmanifestationsofachondroplasia.Archivesof OtolaryngologyHead&NeckSurgery.133:237244. DanzigerI,BrodskyL,PerryR,NusbaumS,BematJ&RobinsonL.(1990).Nagersacrofacialdysostosis. casereportandreviewoftheliterature.InternationalJournalofPediatricOtorhinolatyngologv. 20:225240. DayR,BeckettB,DonnaiD,FryerA,HeidenbladM,HowardP,KerrB,...(2008).Aclinicalandgenetic studyoftheSay/Barber/Biesecker/YoungSimpsontypeofOhdosyndrome.ClinicalGenetics, 74:434444. Digilio,M.etal.(1999).Audiologicalfindingsinpatientswithmicrodeletion22q11(Di George/velocardiofacialsyndrome).BritishJournalofAudiology.33(5):32933. DelFattore,A.Cappariello,A.Teti,A.(2008).Genetics,pathogenesisandcomplicationsofosteopetrosis. Bone.42;1929. Desai,U.Rosen,H.Mulliken,J.Gopen,Q.Meara,J.Rogers,G.(2010).AudiologicfindingsinPfeiffer syndrome.JournalofCraniofacialSurgery.21:5.14111418. Dewan,K.,Wippold,F.J.,Lieu,J.E.(2009).Enlargedvestibularaqueductinpediatricsensorineural hearingloss.JournalofOtolaryngology,HeadandNeckSurgery.140(4),552558. DozierTS,DuncanIM,KleinAJ,LambertPR&KeyL.(2005).Otologicmanifestationsofmalignant osteopetrosis.Otology&Neurotology.26:762766. Evans,P.Ansari,B.Page,M.(2000).LettertotheEditor:Alstrom'ssyndromewithKleinfelter's karyotype.JournalofInternalMedicine.248:8992.
EvansGR,LloydSK,RamsdenRT.(2011).Neurofibromatosistype2.AdvancesinOtorhinolaryngology. 70:918. ForlinoA,CabralWA,BarnesAM&MariniJC.(2011).Newperspectivesonosteogenesisimperfecta. NatureReviews,Endocrinology.7,540557 . Francomano,C.(2010).Sticklersyndrome.ManagementofGeneticSyndromes.52:787796. Friedman,T.Schultz,J.Ahmed,Z.Tsilou,E.Brewer,C.(2011).UsherSyndrome:HearingLosswithVision Loss.AdvancesinOtorhinolaryngology.70;pp5665. GopenQ,ZhouG,WhittemoreK&KennaM.(2011).Enlargedvestibularaqueduct:reviewof controversialaspects.TheLaryngoscope.121:19711978. GritliS,BenSalahM,ShiliA,RobsonCD,FerjaouiM,HendaouiL,BelhaniA,...(2010).Associationofthe LongQTSyndromeWithGoiterandDeafness.AmericanJournalofCardiology.105:681686. Gruen,P.etal.(2005).AnomaliesoftheearinthePierreRobintriad.Annalsofotology,rhinologyand laryngology.114(8):60513. Halpin,C.Sims,K.(2008).TwentyyearsofaudiologyinapatientwithNorriedisease.International JournalofPediatricOtorhinolaryngology.72;17051710. HerrmannB,KarzonR&MolterD.(2005).OtologicandaudiologicfeaturesofNageracrofacial dysostosis.InternationalJournalofPediatricOtorhinolaryngology.69,10531059. HonnebierBM,CabilingDS,HetlingerM,McDonaldMcGinnDM,ZackaiEH,BartlettSP.(2008).The naturalhistoryofpatientstreatedforFGFR3associated(Muenketype)craniosynostosis. PlasticReconstructiveSurgery.121:919931. HopsuaE,MarkkolaA&PitkarantaA.(2007).Labyrinthinemalformationinthe22q11.2deletion syndrome.ClinicalDysmorphology.16:6768. HuangBY,ZdanskiC&CastilloM.(2012).Pediatricsensorineuralhearingloss,part2:syndromicand acquiredcauses.AmericanJournalofNeuroradiology.33:399406 Katsanis SH, Jabs EW. Treacher Collins Syndrome. (2004 [Updated 2011]). In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993. ItoT,ChoiBY,KingKA,ZalewskiCK,MuskettJ,ChattarajP,ShawkerT,...(2011).SLC26A4Genotypes andphenotypesassociatedwithenlargementofthevestibularaqueduct.CellularPhysiology Biochemistry.28:545552 Joy,T.Cao,H.Black,G.Malik,R.CharltonMenys,V.Hegele,R.Durrington,P.Alstrom.(2007). syndrome:acasereportandliteratureReview.OrphanetJournalofRareDiseases.2:49,110. SyndromesandHearingLossSectionofCleftPalate/CraniofacialandSyndromicAudiologyClinical PracticeGuidelineWebsiteversionMarch26,2012 P a g e |20
Kabziska,D.(2010).CharcotMarieToothtype1AdiseasecausedbyanovelSer112Argmutationinthe PMP22gene,coexistingwithaslowlyprogressivehearingimpairment.JournalofApplied Genetics.51(2)203214. Kashtan,C.(2011).CollagenIVrelatedAlportsyndromeandbenignfamilialhematuria,collagenIV relatedalportsyndromeandthinbasementmembranedisease.UpdatedJuly15,2010. Retrievedfromwww.ncbi.nlm.nih.gov/pubmed on March 31,2011. KeilmannA,NakaratT,BruceIA,MolterD&MalmG.(2012).Hearinglossinpatientswith mucopolysaccharidosisII:datafromHOStheHunteroutcomesurvey.JournalofInherited MetabolicDisorders.35:343353. Kemperman,M.Koch,S.Kumar,S.Hiivgcn,P.Joosietr,F.Cremers,C.(2004).Evidenceofprogression andfluctuationofhearingimpairmentinbranchiootorenalsyndrome.InternationalJournalof Audiology.43:523532. KimberlingWJ,BorsaN,SmithRJ.(2011).Hearinglossdisordersassociatedwithrenaldisease. AdvancesinOtorhinolaryngology.70:7583. Lee,S.Seto,M.Sie,K.Cunningham,M.A.(2002).ChildwithSaethreChotzensyndrome,sensorineural hearingloss,andaTWISTmutation.CleftPalateCraniofacialJournal.39:1.110114. Luxon,L.Cohen,M.Coffey,R.Phelps,PD.Britton,KE.Jan,H.Trembath,RC.Reardon,W.(2003).Neuro otologicalfindingsinPendredsyndrome.InternationalJournalofAudiology.42:8288. Malfait,F.Wenstrup,R.DePaepe,A.(2010).ClinicalandgeneticaspectsofEhlersDanlossyndrome, classictype.GeneticsinMedicine.12;10.587605. Malm,G.Gustafsson,B,Berglund,G.Lindstrom,M.Naess,K.,Borgstrom,B.vonDobeln,U.Ringden,O. (2008).OutcomeinsixchildrenwithmucopolysaccharidosistypeIH,hurlersyndrome,after haematopoieticstemcelltransplantation(HSCT).ActaPdiatrica97;11081112. MarshallJD,PietroM,CollinGB,NaggertJK.(2011).Alstrmsyndrome:geneticsandclinicaloverview. CurrentGenomics.12,225235. MartelliH,deMirandaRT,FernandesCM,BonanPR,ParanaibaLM,GranerE,ColettaD.(2009). Goldenharsyndrome:clinicalfeatureswithorofacialemphasis.JournalofAppliedOralScience. 18(6):6469 Matsumoto,N.Niikawa,N.(2003).Kabukimakeupsyndrome:areview.AmericanJournalofMedical Genetics.117C:5765. MedardC,FranoisM,NarcyP.(1999).HearingstatusofRobinsequencepatients.Annals dotolaryngologieetdechirurgiecervicofaciale.116(6):31721. MhanniA,DawsonA,ChudleyA.(1998).Verticaltransmissionoftheohdoblepharophimosissyndrome. Americanjournalofmedicalgenetics77:144148
MiyajimaC,IshimotoSI&YamasobaT.(2007).OtosclerosisassociatedwithEhlersDanlossyndrome: reportofacase.ActaOtoLaryngologica.127:157159. Mohiddin,S.Ahmed,Z.Griffith,A.Tripodi,D.Friedman,T.Fananapazir,L.MorellR.(2004).Novel associationofhypertrophiccardiomyopathy,sensorineuraldeafness,andamutationin unconventionalmyosinVI(MYO6).JournalofMedicalGenetics.41;309314. Morimoto,A..Wiggins,R.HudginsP.HedlundG.HamiltonB.MukherjiS.TelianS.Harnsberger,H. (2006).AbsentsemicircularcanalsinCHARGEsyndrome:Radiologicspectrumoffindings. AmericanJournalofNeuroradiology27:166371. Pannier,S.Couloigner,V.Messaddeq,N.ElmalehBergs,M.MunnichA.Romand,R.LegeaiMallet,L. (2009)ActivatingFgfr3Y367Cmutationcauseshearinglossandinnereardefectinamouse modelofchondrodysplasia.BiochimicaetBiophysicaActa.17;92140147. ParkAH,WilsonMA,StevensPT,HarwardR&HohlerN.(2012).Identificationofhearinglossin pediatricpatientswithdownsyndrome.OtolaryngologyHeadandNeckSurgery.146(1)135 140. Pierpont,E.Weismer,S.Roberts,A.TworogDube,E.Pierpont,M.Mendelsohn,N.Seidenberg,M. (2010).ThelanguagephenotypeofchildrenandadolescentswithNoonansyndrome.Journalof Speech,Language,andHearingResearch.53;917932. PingaultVEnteD,DastotLeMoalF,GoossensM,MarlinS,BondurandN.(2010).ReviewandUpdateof MutationsCausingWaardenburgSyndrome.HumanMutation.31:391406. Postelmans,J.Stockroos,R.(2006).Cochlearimplantationinapatientwithdeafnessinducedby CharcotMarieToothdisease(hereditarymotorandsensoryneuropathies).TheJournalof Laryngology&Otology.120,508510. Raine,C.,Kurukalasuriya,M.Bajaj,Y.Strachan,D.(2008).CochlearimplantationinRefsumsdisease. CochlearImplantsInternational.9(2),97102. Rajenderkumar,D.Bamiou,DE.SirimannaT.(2005).AudiologicalprofileinApertsyndrome.Archivesof DiseaseinChildhood.90:592593. RanceG,CorbenL,BarkerE,CarewP,ChisariD,RogersM,DowellR...(2009).Auditoryperceptionin individualswithFriedreich'sataxia.Audiology& Neurootology.0;15(4):22940. RehmHL,ZhangDS,BrownMC,BurgessB,HalpinC,BergerW,MortonCC,...(2002).Vasculardefects andsensorineuraldeafnessinamousemodelofNorriedisease.TheJournalofNeuroscience, 22(11):42864292 RobinNH,FalkMJ&HaldemanEnglertCR.FGFRrelatedcraniosynostosissyndromes.(1998 [Updated 2011]). In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.
Robin NH, Moran RT, Warman M, et al. Stickler Syndrome. (2000 [Updated 2011]). In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Romand,R.LegeaiMallet,L.(2009).ActivatingFgfr3Y367Cmutationcauseshearinglossandinnerear defect inamousemodelofchondrodysplasia.BiochimicaetBiophysicaActa.17;92.140147. Sainz,M.GarcaValdecasas,J.Ballesteros,J.(2009).Surgicaloptionsforhearinglossinpatientswith osteogenesisimperfecta.ActaOtorrinolaringolEspania.60(2):12630. Santos,S.Sgambatti,L.Bueno,A.Albi,G.Surez,A.Domnguez,M.(2010).Enlargedvestibular aqueductsyndrome:Areviewof55paediatricpatients.ActaOtorrinolaringologicaEspania. 61(5):338344. ShottSR.(2006).Downsyndrome:commonotolaryngologicmanifestations.AmericanJournalofMedical Genetics.142C:131140 Skarzynski,H.Porowski,M.PodskarbiFayette,R.(2009).Treatmentofotologicalfeaturesofthe oculoauriculovertebraldysplasia(Goldenharsyndrome).InternationalJournalofPediatric Otorhinolaryngology.73;915921. SopontammarakS,KhongphatthanayothinA,SaNguanchuaP.(2003).PrevalenceofidiopathiclongQT syndromeincongenitalsensorineuralhearinglossstudentsofSongkhlaSchoolfortheDeaf. Journalofthemedicalassociationofthailand.86(12):114955. SzymkoBennettYM,KurimaK,OlsenB,SeegmillerR,GriffithAJ.(2003).Auditoryfunctionassociated withCol11a1haploinsufficiencyinchondrodysplasia(cho)mice.HearingResearch.Jan;175(1 2):17882. SzymkoBennett,Y.MastroianniMA,ShotlandLI,DavisJ,OndreyFG,BalogJZ,RudySF...(2001). AuditorydysfunctioninSticklersyndrome.Archivesofotolaryngologyheadandnecksurgery. 127:10611068. Tartaglia,M.Zampino,G.Gelb,B.(2009).Noonansyndrome:clinicalaspectsandmolecular pathogenesis.MolecularSyndromology.1:226. TokgzYlmazS,SahlS,FitozS,SennaroluG,TekinM.(2011).Audiologicalfindingsin otospondylomegaepiphysealdysplasia(OSMED)associatedwithanovelmutationinCOL11A2. InternationalJournalofPediatricOtorhinolaryngology.Mar;75(3):4337. Thomeer,H.Crins,T.Kamsteeg,E.Buijsman,W.Cruysberg,J.Knoers,N.Cremers,C.(2010). Clinicalpresentationandthepresenceofhearingimpairmentinbranchiooculofacial syndrome:anewmutationintheTFAP2AGene.AnnalsofOtology,Rhinotogy&Laryngology. 119(I2):8O68I4. Toriello,HV.(2011).Pigmentaryanomaliesandhearingloss.Advances in Otorhinolaryngology.70:505.
Toriello HV, Reardon, W., & Gorlin, R., eds. (2004). Hereditary Hearing Loss and its Syndromes, 2nd edition. New York, Oxford University Press.
Tranebjaerg L, Samson RA, syndrome. (2002) {Updated al., editors. GeneReviews Washington, Seattle; Green GE. Jervell and Lange-Nielsen 2010}). In: Pagon RA, Bird TD, Dolan CR, et [Internet]. Seattle (WA): University of 1993-.
VerloesA,BremondGignacD,IsidorB,DavidA,BaumannC,LeroyMA,StevensR...(2006). Blepharophimosismentalretardation(BMR)syndromes:aproposedclinicalclassificationofthe socalledohdosyndrome,anddelineationoftwonewBMRsyndromes,oneXlinkedandone autosomalrecessive.AmericanJournalofMedicalGenetics,140A:12851296. Verver,E.Freriks,K.Thomeer,H.Huygen,P.Pennings,RJ.AlfenvanderVelden,A.Timmers...(2010). EarandhearingproblemsinrelationtokaryotypeinchildrenwithTurnersyndrome.Hearing Research.18. Vrabec,J.Lin,J.(2010).Innerearanomaliesincongenitalauralatresia.Otology&Neurotology. 31;14211426. WandersR,WaterhamH&LeroyB.RefsumDisease.2006 [Updated 2010]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. WesslesMW,BrooksAS,HoogeboomJ,NiermeijerMF&WillemsPJ.(2002).Kabukisyndrome:A reviewstudyofthreehundredpatients.ClinicalDysmorphology.11:95102. White,S.Ades,L.Amor,D.Liebelt,J.Bankier,A.Baker,E.Wilson,M&Savarirayan,R.(2003).Two furthercasesofOhdosyndromedelineatethephenotypicvariabilityofthecondition.Clinical Dysmorphology.12:109113. Wold,S.Derkay,C.Darrow,D.&Proud,V.(2010).Roleofthepediatricotolaryngologistindiagnosis andmanagementofchildrenwithmucopolysaccharidoses.InternationalJournalofPediatric Otorhinolaryngology74;2731. YildirimN,ArslanoluA,MahiroullariM,ahanM&zkanH.(2008).KlippelFeilsyndromeand associatedearanomalies.Americanjournalofotolaryngologyheadandneckmedicineands urgery.29:319325. Zarchi,O.Attias,J.Raveh,E.BaselVanagaite,L.Saporta,L&Gothelf,D.A(2011).Comparativestudyof hearinglossintwomicrodeletionsyndromes:Velocardiofacial(22q11.2deletion)andWilliams (7q11.23deletion)syndromes.TheJournalofPediatrics.158:3016.

Syndromes and Hearing Loss

Transféré par

Informations du document

Copyright

Formats disponibles

Partager ce document

Partager ou intégrer le document

Options de partage

Avez-vous trouvé ce document utile ?

Ce contenu est-il inapproprié ?

Droits d'auteur :

Formats disponibles

Syndromes and Hearing Loss

Transféré par

Droits d'auteur :

Formats disponibles

Syndromes and Hearing Loss Clinical Practice Guideline for Audiology (this is a section of a larger Practice Guideline Cleft

Riskoflateonset PermanentHL? Y=Yesevidence found N=Noevidence found

Ageof Diagnosisof Syndrome

Riskoflateonset PermanentHL? Y=Yesevidence found N=Noevidence found

Ageof Diagnosisof Syndrome

Alportsyndrome:collagen synthesisdiseasecharacterized byrenaldisease.Alveset.al, '08&Kashtan,'10

Riskoflateonset PermanentHL? Y=Yesevidence found N=Noevidence found

Ageof Diagnosisof Syndrome

Y:LateonsetSNHLassoc. withdemyelizationofCN VIII.

Variable, especiallyif familyhistory unknown, usuallylate childhoodor earlyadulthood.

Riskoflateonset PermanentHL? Y=Yesevidence found N=Noevidence found

Ageof Diagnosisof Syndrome

N:CHL~50%OM& OME.Sporadicreportof SNHL,insufficientdata/ conflictingevidence.

Riskoflateonset PermanentHL? Y=Yesevidence found N=Noevidence found

Ageof Diagnosisof Syndrome

EhlersDanlossyndrome: synthesisofcollagendefects, characterizedbyhypotonia, ocularabnormalities,joint hypermobility.Miyajima,2007. Fransiska,2010Baumannetal, 2012 Estimatedprevalence1:20,000.

Riskoflateonset PermanentHL? Y=Yesevidence found N=Noevidence found

Ageof Diagnosisof Syndrome

meanonsetof gaitsymptoms between10and 15years.

Hemifacialmicrosomia: abnormaldevelopmentofthe lowerhalfoftheface,most commonlytheears,themouth andthemandible(partofthe oculoauriculovertebral spectrum)Vrabec,2010.Collett etal,2011. Incidence:1:3,5004,500.

Riskoflateonset PermanentHL? Y=Yesevidence found N=Noevidence found

Ageof Diagnosisof Syndrome

Riskoflateonset PermanentHL? Y=Yesevidence found N=Noevidence found

Ageof Diagnosisof Syndrome

N:LongQTCharacterized bybilateralcongenital profoundSNHL

Variable Halfofchildren identifiedbyage 3duetocardiac issues.

Riskoflateonset PermanentHL? Y=Yesevidence found N=Noevidence found

Ageof Diagnosisof Syndrome

Y:BL(~67%)orUni (~33%).PrevalenceofL OSNHL~96%. Onsetofhearinglossis highlyvariable,ranging frombirthto adolescence.