{"orpha":140963,"name":"Bilateral microtia-deafness-cleft palate syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Bilateral microtia-hearing loss-cleft palate syndrome"],"definition":"A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-140963/","orphanet_url":"https://www.orpha.net/en/disease/detail/140963","names":{"fr":{"name":"Syndrome de microtie bilatérale-surdité-fente palatine","definition":"Le syndrome est caractérisé par l'association d'une microtie bilatérale avec déficience auditive sévère à profonde et une fente palatine."},"de":{"name":"Bilaterale Mikrotie-Schwerhörigkeit-Gaumenspalte-Syndrom","definition":"Das Syndrom ist gekennzeichnet durch eine Assoziation von beidseitiger Mikrotie, starker bis hochgradiger Schwerhörigkeit und Gaumenspalte."},"es":{"name":"Síndrome de microtia bilateral-sordera-paladar hendido","synonyms":["Síndrome de microtia bilateral-hipoacusia-paladar hendido"],"definition":"Es un síndrome de hendidura orofacial poco frecuente de origen genético caracterizado por la asociación de microtia bilateral, hipoacusia de grave a profunda y fisura palatina."},"it":{"name":"Microtia bilaterale - sordità - palatoschisi"},"nl":{"name":"Bilaterale microtie - doofheid - gespleten gehemelte-syndroom","synonyms":["Bilaterale microtie - gehoorverlies - gespleten gehemelte-syndroom"],"definition":"Een zeldzaam genetisch syndroom van orofaciale schisis, gekenmerkt door de associatie van bilaterale microtie met ernstige tot zeer ernstige slechthorendheid, en gespleten gehemelte."},"pt":{"name":"Síndrome de microtia bilateral-surdez-fenda palatina","definition":"Esta síndrome é caracterizada pela associação de microtia bilateral com surdez grave a profunda e fenda do palato."},"pl":{"name":"Obustronna mikrocja - głuchota - rozszczep podniebienia","synonyms":["Bilateral microtia-hearing loss-cleft palate syndrome"]},"cs":{"name":"Syndrom zahrnující bilaterální mikrocii, hluchotu a rozštěp patra","synonyms":["Bilateral microtia-hearing loss-cleft palate syndrome"]},"uk":{"name":"Синдром двосторонньої мікротії-глухоти-розщілини піднебіння","synonyms":["Синдром двосторонньої мікротії-глухоти-розщілини піднебіння"],"definition":"A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate."},"zh":{"name":"双侧小耳畸形-听力障碍-腭裂综合征","synonyms":["双侧小耳畸形-听力损失-腭裂综合征"],"definition":"该综合征的特征与双侧小耳畸形伴严重听力损伤和腭裂相关。"},"tr":{"name":"Bilateral mikrotia-sağırlık-yarık damak sendromu","synonyms":["Bilateral mikrotia-işitme kaybı-yarık damak sendromu"]}},"xrefs":[{"source":"OMIM","code":"612290","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":"324133990"},{"source":"MONDO","code":"0012854","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303551","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"HOXA2","name":"homeobox A2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18394579[PMID]","hgnc":"5103","ensembl":"ENSG00000105996","omim":"604685","loci":["7p15.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"23775976[PMID]_27503514[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23775976[PMID]_27503514[PMID]"}],"phenotypes":null}