{"orpha":2405,"name":"Thickened earlobes-conductive deafness syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Escher-Hirt syndrome","Thickened earlobes-conductive hearing loss syndrome"],"definition":"Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2405/","orphanet_url":"https://www.orpha.net/en/disease/detail/2405","names":{"fr":{"name":"Syndrome de lobe de l'oreille épais-surdité de conduction","synonyms":["Syndrome de Escher-Hort"],"definition":"Le syndrome de lobe de l'oreille épais-surdité de conduction est caractérisé par une surdité de conduction liée à des anomalies des osselets, une microtie avec lobes épais et un micrognathie. Il a été décrit dans deux familles. Il se transmet sur le mode autosomique dominant."},"de":{"name":"Syndrom der Ohrläppchenverdickung mit Schallleitungsschwerhörigkeit","synonyms":["Escher-Hirt-Syndrom","Escher-Hort-Syndrom"],"definition":"Dieses Syndrom ist gekennzeichnet durch Mikrotie mit verdickten Ohrläppchen, Mikrogenie und Schallleitungsschwerhörigkeit durch Fehlbildung der Gehörknöchelchen."},"es":{"name":"Síndrome de lóbulos gruesos de las orejas-sordera conductiva","synonyms":["Síndrome de Escher-Hirt","Síndrome de lóbulos gruesos de las orejas-hipoacusia conductiva"],"definition":"Es un síndrome caracterizado por microtia con engrosamiento de los lóbulos de las orejas, micrognacia e hipoacusia conductiva a causa de las anomalías congénitas osiculares. Se ha descrito en dos familias. Se transmite por herencia autosómica dominante."},"it":{"name":"Lobi dell'orecchio ispessiti - sordità conduttiva","synonyms":["Sindrome di Escher-Hirt"]},"nl":{"name":"Verdikte oorlellen - conductieve doofheid-syndroom","synonyms":["Syndroom van Escher-Hirt","Verdikte oorlellen - conductief gehoorverlies-syndroom"],"definition":"Een syndroom, gekenmerkt door microtie met verdikte oorlellen, micrognathie, en conductief gehoorverlies als gevolg van congenitale anomalieën van gehoorbeentjes. Verdikte oorlellen - conductieve doofheid-syndroom werd beschreven bij twee families. Overerving gebeurt autosomaal dominant."},"pt":{"name":"Síndrome de lóbulos auriculares espessos-surdez de transmissão","synonyms":["Síndrome Escher-Hirt","Síndrome de lóbulos auriculares espessos-perda auditiva de transmissão"]},"pl":{"name":"Zgrubiałe płatki uszne - głuchota przewodzeniowa","synonyms":["Zespół Eschera i Hirta"]},"cs":{"name":"Syndrom zahrnující ztluštělé ušní lalůčky a převodní hluchotu","synonyms":["Escherův-Hirtův syndrom","Escher-Hirtův syndrom"]},"uk":{"name":"Синдром потовщеної мочки вуха - кондуктивної глухоти","synonyms":["Синдром Ешера-Гірта","Синдром потовщених мочок вух - кондуктивної приглухуватості"],"definition":"Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant."},"zh":{"name":"耳垂增厚-传导性耳聋综合征","synonyms":["耳垂增厚-传导性听力损失综合征"]},"tr":{"name":"Kalınlaşmış kulak memeleri-iletken sağırlık sendromu","synonyms":["Escher-Hirt sendromu","Kalınlaşmış kulak memeleri-iletken işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"128980","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H90.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"593530256"},{"source":"MONDO","code":"0007504","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302507","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"5657116[PMID]_5428055[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5657116[PMID]_5428055[PMID]"}],"phenotypes":null}