{"orpha":3232,"name":"Deafness-ear malformation-facial palsy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hearing loss-ear malformation-facial palsy syndrome","Sellars-Beighton syndrome"],"definition":"Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3232/","orphanet_url":"https://www.orpha.net/en/disease/detail/3232","names":{"fr":{"name":"Syndrome de surdité-oreille anormale-paralysie faciale","synonyms":["Syndrome de Sellars-Beighton"],"definition":"Le syndrome de surdité-oreille anormale-paralysie faciale est caractérisé par une surdité de conduction sévère due à des anomalies de l'étrier, associée à des malformations variables de l'oreille externe et à une paralysie faciale. Il a été décrit chez trois enfants et leur mère. Le mode de transmission est autosomique dominant."},"de":{"name":"Schwerhörigkeit-Ohrfehlbildung-Fazialisparese-Syndrom","definition":"Dieses Syndrom ist gekennzeichnet durch hochgradige Leitungs-Schwerhörigkeit, verursacht durch Anomalien des Stapes, und durch unterschiedlich ausgeprägte Ohrfehlbildungen und Gesichtslähmung."},"es":{"name":"Síndrome de sordera-malformaciones del oído-parálisis facial","synonyms":["Síndrome de Sellars-Beighton","Síndrome de hipoacusia-malformaciones del oído-parálisis facial"],"definition":"Es un síndrome caracterizado por sordera conductiva profunda debido a anomalías estapédicas asociadas con malformaciones variables de los pabellones auriculares, y parálisis facial. Se ha descrito en tres hermanos y su madre. La herencia es autosómica dominante."},"it":{"name":"Sordità - anomalie delle orecchie - paralisi facciale","synonyms":["Sindrome di Sellars-Beighton"]},"nl":{"name":"Doofheid - malformatie van oor - aangezichtsverlamming-syndroom","synonyms":["Gehoorverlies - malformatie van oor - aangezichtsverlamming-syndroom","Syndroom van Sellars-Beighton"],"definition":"Een syndroom, gekenmerkt door zeer ernstige conductieve doofheid als gevolg van afwijkingen van musculus stapedius (stijgbeugelspier), geassocieerd met variabele malformaties van uitwendig oor en aangezichtsverlamming. Doofheid - malformatie van oor - aangezichtsverlamming-syndroom werd beschreven bij drie broers/zussen en hun moeder. Overerving gebeurt autosomaal dominant."},"pt":{"name":"Síndrome de surdez-malformação do ouvido-paralisia facial","synonyms":["Síndrome Sellars-Beighton","Síndrome de perda auditiva-malformação do ouvido-paralisia facial"]},"pl":{"name":"Głuchota - malformacja ucha- paraliż twarzy","synonyms":["Zespół Sellarsa i Beightona"]},"cs":{"name":"Syndrom zahrnující hluchotu, malformace ucha a obrnu obličeje","synonyms":["Sellarsův-Beightonův syndrom","Sellars-Beightonův syndrom"]},"uk":{"name":"Синдром глухоти-вушної деформації-лицевого паралічу","synonyms":["Синдром втрати слуху - деформації вуха - лицьового паралічу","Синдром Селларса-Бейтона"],"definition":"Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant."},"zh":{"name":"耳聋-耳畸形-面瘫综合征","synonyms":["听力丧失-耳畸形-面瘫综合征"]},"tr":{"name":"Sağırlık-kulak malformasyonu-yüz felci sendromu","synonyms":["Sellars-Beighton sendromu","İşitme kaybı-kulak malformasyonu-fasiyal felç sendromu"]}},"xrefs":[{"source":"OMIM","code":"124490","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1771314618"},{"source":"MONDO","code":"0007421","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274753","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1684","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":4.0,"area":"Worldwide","status":"Validated","source":"6851230[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6851230[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008628","label":"Abnormality of the stapes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009906","label":"Aplasia/Hypoplasia of the earlobes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009739","label":"Hypoplasia of the antihelix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000383","label":"Abnormality of periauricular region","frequency":"Frequent (79-30%)","criteria":null}]}}