{"orpha":3241,"name":"Deafness-craniofacial syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hearing loss-craniofacial syndrome"],"definition":"Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3241/","orphanet_url":"https://www.orpha.net/en/disease/detail/3241","names":{"fr":{"name":"Syndrome de surdité-syndrome craniofacial","definition":"Le syndrome de surdité-syndrome craniofacial est caractérisé par l'association d'une surdité congénitale et d'une dysmorphie faciale (asymétrie faciale, racine du nez large, petites ailes nasales). Il a été décrit chez deux membres d'une famille juive (un homme et sa fille). Une alopécie temporale a également été observée. Le mode de transmission semble autosomique dominant."},"de":{"name":"Syndrom der Taubheit mit kranio-fazialer Dysmorphie","definition":"Dieses Syndrom ist gekennzeichnet durch angeborenen Hörverlust und faziale Dysmorphien (asymmetrisches Gesicht, breite Nasenwurzel, kleine Nasenflügel)."},"es":{"name":"Síndrome craneofacial-sordera","synonyms":["Síndrome craneofacial-hipoacusia"],"definition":"Es un síndrome caracterizado por la asociación de hipoacusia congénita y dismorfia facial (asimetría facial, raíz nasal ancha e hipoplasia de las alas nasales). Se ha descrito en dos miembros (padre e hija) de una familia judía. También se observó alopecia temporal. La transmisión parece ser autosómica dominante."},"it":{"name":"Sindrome craniofacciale - sordità"},"nl":{"name":"Doofheid-craniofaciaal syndroom","synonyms":["Gehoorverlies-craniofaciaal syndroom"],"definition":"Een syndroom, gekenmerkt door de associatie van congenitaal gehoorverlies en faciale dysmorfie (asymmetrie van aangezicht, brede neuswortel, en kleine neusvleugels). Doofheid-craniofaciaal syndroom werd beschreven bij twee leden (vader en dochter) van een Joodse familie. Alopecie ter hoogte van slaap werd ook opgemerkt. Overerving lijkt autosomaal dominant te gebeuren."},"pt":{"name":"Síndrome cranio-facial-surdez","synonyms":["Síndrome cranio-facial-perda auditiva"]},"pl":{"name":"Zespół czaszkowo-twarzowy z głuchotą","synonyms":["Hearing loss-craniofacial syndrome"]},"cs":{"name":"Hluchota a kraniofaciální syndrom","synonyms":["Hearing loss-craniofacial syndrome"]},"uk":{"name":"Глухота-краніофаціальний синдром","synonyms":["Черепно-лицевий синдром з втратою слуху"],"definition":"Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant."},"zh":{"name":"耳聋-颅面综合征","synonyms":["听力丧失-颅面综合征"]},"tr":{"name":"Sağırlık-kraniyofasiyal sendrom","synonyms":["İşitme kaybı-kraniyofasiyal sendrom"]}},"xrefs":[{"source":"OMIM","code":"125230","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":"1353196365"},{"source":"MONDO","code":"0007428","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565118","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1852278","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1686","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":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"3690878[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3690878[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010297","label":"Bifid tongue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000200","label":"Short lingual frenulum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004524","label":"Temporal hypotrichosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null}]}}