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Kabuki syndrome
Kabukisyndromeisararegeneticdisorderwitharangeofcharacteristicsincludingintellectual disability,distinctivefacialfeaturesandskeletalabnormalities.EstimatessuggestthatKabuki syndromeoccursinaboutoneinevery32,000births.However,Kabukisyndromeisthoughttobe underdiagnosed,soitcouldbemorecommon. TheconditionaffectsmalesandfemalesequallyandseemstobemorecommoninJapanese people.Thereisnocure.TheconditionisalsoknownasNiikawa-Kurokisyndrome. Symptoms Kabukisyndromehasawiderangeofcharacteristics,butnotallarepresentineverychildwiththe condition.Themostcommoncharacteristicsinclude: Distinctivesetoffacialfeaturesincludingwidelyspacedeyes,low-setorprominentears, exaggeratedeyebrowarch,flattenednosetipandaveryhighpalateorcleftpalate Shortstature Skeletalabnormalitiessuchasscoliosis,shortfingersorlaxjoints Intellectualdisability,rangingfrommildtosevere.

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Other health problems Kabukisyndromemaybeassociatedwithotherhealthproblems,including: Heartdefectssuchascoarctation(narrowing)oftheaorta,ventricularoratrialseptal defects(holesbetweentherightandleftheartchambers) Hearingloss Kidneyabnormalities Dentalproblemssuchasmissingormisshapenteeth Eyeproblemssuchasdroopingeyelid(ptosis)orstrabismus Immunesystemdysfunction,suchastheautoimmunediseaseidiopathicthrombocytopenic purpura(ITP)ableedingdisorder Smallskull(microcephaly) Undescendedtesticles Ongoingmiddleearinfections Epilepsy Behaviourproblems Earlypuberty Substantialweightgainatpuberty.

The cause is unknown Kabukisyndromeappearstobeageneticdisorderbutthecauseisunknown.Inmostcases, Kabukisyndromeoccursspontaneously.Rarely,theconditionispresentinotherfamilymembersin apatternthatsuggestsageneticlink.However,researchhassofarfailedtouncoveranyspecific geneticabnormalitiesinpeoplewithKabukisyndrome. Diagnosis Kabukisyndromeisdifficulttodiagnoseforfourmainreasons,including: Everychildwiththeconditionpresentswithaslightlydifferentsetofcharacteristics. Insteadofbeingpresentatbirth,characteristicsmaydevelopovertime. ManydoctorsmaynotbefamiliarwithKabukisyndromebecausetheconditionissorare. Thereisnosingletesttoconfirmadiagnosis.

Kabukisyndrome

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Ageneticistusuallymakesthediagnosisbasedonthechildhavingthedistinctivefacialfeatures andothersignssuggestiveofKabukisyndrome. Treatment Kabukisyndromeispermanentandthereisnocure.Treatmentaimstoreducetheriskof complicationsandimprovequalityoflife.Optionsmayinclude: Surgicaltreatmentforexample,anoperationtocorrectaheartdefect Medicationtomanageepilepticseizures Orthopaedictreatmentforscoliosisandjointlaxity Restorativeandcosmeticdentaltreatment Regulareyeexaminationsandtreatment Physicaltherapytostrengthenmuscles Occupationaltherapytoimprovefinemotorskills Speechtherapy Signlanguagetraining Socialskillstraining Behaviourmodificationtherapy Specialeducationassistance Cosmeticsurgeryforexample,topinbackprominentears.

Long-term outlook SinceKabukisyndromeissorare,thereislimitedinformationonthelong-termoutlook.Issuesto considerinclude: OnestudyofthreeadultswithKabukisyndromefoundthatwhilethepeoplecouldmanage day-to-daylifeandholdpart-timejobs,theystillneededsupportedcareaccommodation. ApersonwithKabukisyndromeappearstohaveanormallifespanbutislikelytohave ongoingmedicalproblemsassociatedwiththecondition,whichwillrequiremedical management. PeoplewithKabukisyndromemaysufferfromobesityinadolescenceoradulthood,which increasestheriskofarangeofhealthproblemsincludingcardiovasculardiseaseand diabetes.Weightmanagementisimportant.

Where to get help Yourdoctor Paediatrician Geneticcounsellingservicesavailableatmostlargepublicmaternityhospitals GeneticHealthServicesVictoria,RoyalChildrensHospitalTel.(03)83416200 SupportingAussieKidswithKabukiSyndrome(SAKKS)petal@sakks.org AssociationofGeneticSupportofAustralasiaTel.(02)92111462oragsa@ozemail.com.au TheCentreforGeneticsEducationTel.(02)99267324

Things to remember

Kabukisyndromeisararegeneticdisorderwitharangeofcharacteristicsincluding intellectualdisability,distinctivefacialfeaturesandskeletalabnormalities. Thereisnocuretreatmentaimstoreducetheriskofcomplicationsandimprovequality oflife. SinceKabukisyndromeissorare,thereislimitedinformationonthelong-termoutlook.

This page has been produced in consultation with, and approved by:

GeneticHealthServicesVictoria

Copyight 1999/2009StateofVictoria.ReproducedfromtheBetterHealthChannel(www.betterhealth.vic.gov.au)at nocostwithpermissionoftheVictorianMinisterforHealth.Unauthorisedreproductionandotherusescomprisedinthe copyrightareprohibitedwithoutpermission. ThisBetterHealthChannelfactsheethaspassedthrougharigorousapprovalprocess.Forthelatestupdatesandmore informationvisitwww.betterhealth.vic.gov.au.

Kabukisyndrome

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Kabukisyndrome

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