{"orpha":1529,"name":"Craniofacial-deafness-hand syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CDHS","Craniofacial-hearing loss-hand syndrome","Sommer-Young-Wee-Frye syndrome"],"definition":"A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (including flat facial profile normal calvarium, hypertelorism, small downslanting palpebral fissures with an antimongoloid slant, hypoplastic nose with button tip and slitlike nares, and small, pursed mouth), profound sensorineural hearing loss/deafness and hand anomalies such as ulnar deviations and contractures of the hand.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1529/","orphanet_url":"https://www.orpha.net/en/disease/detail/1529","names":{"fr":{"name":"Syndrome d'anomalies craniofaciales-surdité-anomalie de la main","synonyms":["CDHS","Syndrome de Sommer-Young Wee-Frye"],"definition":"Ce syndrome se caractérise par l'association d'un profil plat avec hypertélorisme, absence congénitale des canaux naso-lacrymaux, hypoplasie du nez avec narines en forme de fentes, et d'une surdité neuro-sensorielle."},"de":{"name":"Schädel-Gesicht-Schwerhörigkeit-Hand-Syndrom","synonyms":["CDHS","Sommer-Young-Wee-Frye-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen angeborenen Anomalien, das durch Gesichtsdysmorphien (einschließlich flachem Gesichtsprofil, normalem Schädel, Hypertelorismus, kleinen, schräg abwärts verlaufenden Lidspalten mit antimongoloider Neigung, hypoplastischer Nase mit Knopfspitze und schlitzförmigen Nasenlöchern und kleinem, gespitzem Mund), schwerer sensorineuraler Schwerhörigkeit/Taubheit und Handanomalien wie Ulnarabweichungen und Kontrakturen der Hand gekennzeichnet ist."},"es":{"name":"Síndrome craneofacial-sordera-mano","synonyms":["CDHS","Síndrome craneofacial-hipoacusia-mano","Síndrome de Sommer-Young-Wee-Frye"],"definition":"Es un síndrome poco frecuente de anomalías congénitas múltiples caracterizado por dismorfia facial (perfil facial plano con bóveda craneal normal, hipertelorismo, fisuras palpebrales pequeñas con inclinación antimongoloide descendente, nariz hipoplásica con punta aplanada y narinas en forma de hendidura, y boca pequeña y fruncida), hipoacusia/sordera neurosensorial profunda y anomalías de las manos, como desviación cubital y contracturas."},"it":{"name":"Sindrome craniofacciale - sordità - mano","synonyms":["CDHS","Sindrome di Sommer-Young-Wee-Frye"],"definition":"La sindrome craniofacciale-sordità-mano (CDHS) è una malattia autosomica dominante, descritta in una famiglia, caratterizzata da dismorfismi facciali caratteristici (profilo facciale appiattito con volta cranica normale, ipertelorismo, rime palpebrali strette oblique verso il basso, ipoplasia del naso con punta a bottone e narici simili a fessure, bocca piccola e ''serrata''), sordità neurosensoriale profonda, deviazioni ulnari e contratture delle mani. È stato ipotizzato che la CDHS sia una variante allelica della sindrome di Waardenburg (si veda questo termine), dalla quale si differenzia per i dismorfismi facciali caratteristici e le peculiarità della diagnostica per immagini."},"nl":{"name":"Craniofaciaal - doofheid - hand-syndroom","synonyms":["CDHS","Craniofaciaal - gehoorverlies - hand-syndroom","Syndroom van Sommer-Young-Wee-Frye"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekenmerkt door faciale dysmorfie (waaronder plat gelaatsprofiel met normaal schedeldak, hypertelorisme, kleine en schuin naar beneden hellende ooglidspleten met antimongoloïde stand, hypoplastische neus met ronde neuspunt en spleetvormige neusgaten, en kleine, getuite mond), zeer ernstig sensorineuraal gehoorverlies/doofheid, en handanomalieën zoals ulnaire deviaties en contracturen van hand."},"pt":{"name":"Síndrome craniofacial-surdez-mão","synonyms":["Síndrome Sommer-Young-Wee-Frye"],"definition":"Síndrome rara de anomalias congénitas múltiplas caracterizada por dismorfias faciais (incluindo perfil facial plano com calvária normal, hipertelorismo, fendas palpebrais pequenas e inclinadas para baixo, com inclinação antimongólica, nariz hipoplásico com ponta em botão e narinas em fenda e boca pequena e contraída), défice auditivo/surdez neurossensorial profunda e anomalias das mãos, tais como desvio ulnar e contraturas da mão."},"pl":{"name":"Zespół czaszkowo-twarzowo-dłoniowy z głuchotą","synonyms":["CDHS","Zespół Sommera, Young, Wee i Frye"],"definition":"Rzadki zespół mnogich wad wrodzonych charakteryzujący się dysmorfią twarzy (płaski profil twarzy, prawidłowa budowa sklepienia czaszki, hiperteloryzm, małe, opadające w dół szpary powiekowe o antymongoloidalnym nachyleniu, hipoplastyczny nos z guzikowatym czubkiem i szczelinowatymi nozdrzami oraz małe, zaciśnięte usta), głębokim odbiorczym ubytkiem słuchu / głuchotą oraz wadami kończyn górnych, w tym przykurczami i ulnaryzacją dłoni."},"cs":{"name":"Syndrom zahrnující hluchotu, postižení ruky a kraniofaciální abnormality","synonyms":["CDHS","Sommerové-Young-Weeové-Fryeův syndrom"]},"uk":{"name":"Синдром краніофаціальний-глухоти-аномалії рук","synonyms":["CDHS","Черепно-лицево-ручний синдром із втратою слуху","Синдром Зоммера-Янг-Ві-Фрая"],"definition":"A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (including flat facial profile normal calvarium, hypertelorism, small downslanting palpebral fissures with an antimongoloid slant, hypoplastic nose with button tip and slitlike nares, and small, pursed mouth), profound sensorineural hearing loss/deafness and hand anomalies such as ulnar deviations and contractures of the hand."},"zh":{"name":"颅面-耳聋-手综合症","synonyms":["颅面-听力丧失-手综合症"]},"tr":{"name":"Kraniyofasiyal-sağırlık-el sendromu","synonyms":["CDHS","Sommer-Young-Wee-Frye sendromu","Kraniyofasiyal-işitme kaybı-el sendromu"]}},"xrefs":[{"source":"OMIM","code":"122880","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1355682887"},{"source":"MONDO","code":"0007395","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536453","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1852510","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1571","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"PAX3","name":"paired box 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8664898[PMID]","hgnc":"8617","ensembl":"ENSG00000135903","omim":"606597","loci":["2q36.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"14556253[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_14556253[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009924","label":"Aplasia/Hypoplasia involving the nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000564","label":"Lacrimal duct atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003049","label":"Ulnar deviation of the wrist","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null}]}}