dysmorphic facies | Dysmorphic features

SkiptomaincontentYouarehereHomedysmorphicfaciesSearchForADisorderClinicalCharacteristicsOcularFeatures: Anumberofnondiagnosticsignsoccurintheperiocularstructuresaspartofthegeneralfacialdysmorphism. Thereisageneralfullnesstotheperioculararea,mostevidentintheuppereyelids. Thelidfissuresslantdownwardandtheeyebrowsaresparse. Strabismusisoftenpresent. Ptosishasbeennotedinafewindividuals.SystemicFeatures: Systemicsignsareinconsistentandhighlyvariable. Intrauterinegrowthisusuallybelowaverage. Feedingproblemsareevidentfrombirth. Thefacialdysmorphologyishighlightedbyahigh,broadforeheadandaccentuatedbymicrognathiaandmidfacehypoplasia. Theearsareposteriorlyrotated. Generaldevelopmentisdelayedandmilestones,ifachieved,aredelayed. Behavioralproblemscanbemanifestasanxietyandsomeindividualshavefeaturesoftheautismspectrum. Abnormalmovementssuchastremoranddystoniaaresometimespresent.Brainimagingmayrevealdelayedmyelination,frontalgliosis,whitematterabnormalities,andenlargedventricles.GeneticsHeterozygousmutationsintheYY1gene(14q32)havebeenidentifiedinthiscondition. Thegeneisatranscriptionfactorthatactsbothasarepressorandanactivatorinspecificcircumstances. Virtuallyallcasesoccurdenovo.Pedigree: AutosomaldominantTreatmentTreatmentOptions: Noeffectivegeneralizedtreatmenthasbeenreported.ReferencesArticleTitle: GabrieleM,Vulto-vanSilfhoutAT,GermainPL,VitrioloA,KumarR,DouglasE,HaanE,KosakiK,TakenouchiT,RauchA,SteindlK,FrengenE,MisceoD,PedurupillayCRJ,StrommeP,RosenfeldJA,ShaoY,CraigenWJ,SchaafCP,Rodriguez-BuriticaD,FarachL,FriedmanJ,ThulinP,McLeanSD,NugentKM,MortonJ,NichollJ,AndrieuxJ,Stray-PedersenA,ChambonP,PatrierS,LynchSA,KjaergaardS,TorringPM,Brasch-AndersenC,RonanA,vanHaeringenA,AndersonPJ,PowisZ,BrunnerHG,PfundtR,Schuurs-HoeijmakersJHM,vanBonBWM,LelieveldS,GilissenC,NillesenWM,VissersLELM,GeczJ,KoolenDA,TestaG,deVriesBBA.YY1HaploinsufficiencyCausesanIntellectualDisabilitySyndromeFeaturingTranscriptionalandChromatinDysfunction.AmJHumGenet.2017Jun1;100(6):907-925.PubMedID: 28575647Read

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