{"orpha":141074,"name":"External auditory canal aplasia/hypoplasia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["External auditory canal stenosis/atresia"],"definition":"A rare, otorhinolaryngological malformation characterized by failure in development of the external ear canal resulting in variable degree of malformations ranging from complete absence to mild stenosis and malformation of the middle ear. It is typically unilateral, it manifests with hearing loss on the affected side, and might be associated with microtia or hypoplastic pinna, an aberrant facial nerve course, and cholesteatoma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141074/","orphanet_url":"https://www.orpha.net/en/disease/detail/141074","names":{"fr":{"name":"Aplasie/hypoplasie du conduit auditif externe","synonyms":["Sténose/atrésie du conduit auditif externe"],"definition":"Malformation othorinolaryngologique rare caractérisée par un défaut de développement du conduit auditif externe entraînant des malformations de degré variable, allant de l'absence totale à une légère sténose et une malformation de l'oreille moyenne. Généralement unilatérale, elle se manifeste par une perte auditive du côté atteint et peut être associée à une microtie ou à une hypoplasie du pavillon, à un trajet aberrant du nerf facial et à un cholestéatome."},"de":{"name":"Aplasie/Hypoplasie des äußeren Gehörgangs","definition":"Eine seltene, otorhinolaryngologische Fehlbildung, die durch eine Entwicklungsstörung des äußeren Gehörgangs gekennzeichnet ist und zu Fehlbildungen unterschiedlichen Grades führt, die vom vollständigen Fehlen bis zu einer leichten Stenose und Fehlbildung des Mittelohrs reichen. Sie ist typischerweise einseitig, manifestiert sich mit Hörverlust auf der betroffenen Seite und kann mit Mikrotie oder hypoplastischer Ohrmuschel, einem abweichenden Verlauf des Gesichtsnervs und Cholesteatom einhergehen."},"es":{"name":"Aplasia/ hipoplasia del canal auditivo externo","synonyms":["Estenosis/atresia del conducto auditivo externo"],"definition":"Es una malformación otorrinolaringológica poco frecuente caracterizada por un defecto del desarrollo del canal auditivo externo que resulta en diferentes grados de malformación, variando desde ausencia completa hasta estenosis leve y malformación del oído medio. Por lo general, es unilateral, se manifiesta como sordera del lado afectado y puede estar asociada a microtia o hipoplasia del pabellón auricular, curso aberrante del nervio facial y colesteatoma."},"it":{"name":"Aplasia/ipoplasia del canale uditivo esterno","definition":"Si tratta di una malformazione rara di interesse otorinolaringoiatrico, caratterizzata dal mancato sviluppo del canale uditivo esterno, che esita in malformazioni di gravità variabile, che vanno dall'aplasia completa fino alla stenosi lieve e alla malformazione dell'orecchio medio. Di solito è monolaterale ed esordisce con la sordità dell'orecchio interessato. Può associarsi a microtia o ipoplasia del padiglione, anomalie del percorso dei nervi facciali e colesteatoma."},"nl":{"name":"Aplasie/hypoplasie van uitwendige gehoorgang","synonyms":["Stenose/atresie van uitwendige gehoorgang"],"definition":"Een zeldzame otorinolaryngologische malformatie gekarakteriseerd door een fout in de ontwikkeling van de uitwendige gehoorgang, wat leidt tot variabele gradaties van misvorming, gaande van volledige afwezigheid tot milde stenose en malformatie van het middenoor. Het is doorgaans unilateraal, manifesteert met gehoorverlies aan de aangetaste zijde, en kan geassocieerd zij met microtie of hypoplastische oorschelp, een aberrant verloop van de aangezichtszenuw, en cholesteatoom."},"pt":{"name":"Aplasia do canal auditivo externo"},"pl":{"name":"Aplazja/hipoplazja zewnętrznego kanału słuchowego","synonyms":["Zwężenie/atrezja zewnętrznego kanału słuchowego"]},"cs":{"name":"Aplázie/hypoplázie zevního zvukovodu","synonyms":["Stenóza/atrézie zevního zvukovodu"]},"uk":{"name":"Аплазія/гіпоплазія зовнішнього слухового проходу","synonyms":["Стеноз/атрезія зовнішнього слухового проходу"],"definition":"A rare, otorhinolaryngological malformation characterized by failure in development of the external ear canal resulting in variable degree of malformations ranging from complete absence to mild stenosis and malformation of the middle ear. It is typically unilateral, it manifests with hearing loss on the affected side, and might be associated with microtia or hypoplastic pinna, an aberrant facial nerve course, and cholesteatoma."},"zh":{"name":"先天性外耳道发育不良","synonyms":["外耳道狭窄/闭锁"],"definition":"一种罕见的耳鼻喉畸形，其特征是外耳道发育障碍，导致从完全缺失到轻度狭窄和中耳畸形的不同程度畸形。常单侧，表现为患侧听力丧失，可能与小耳畸形或耳廓发育不良、面神经走行异常和胆脂瘤相关。"},"tr":{"name":"Dış işitsel kanal aplazisi / hipoplazi","synonyms":["Eksternal işitsel kanal darlığı/atrezi"]}},"xrefs":[{"source":"OMIM","code":"108760","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607842","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q16.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA22.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"534621578"},{"source":"MONDO","code":"0015385","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266597","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":156243,"name":"Pinnae and external auditory canal anomaly","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"TSHZ1","name":"teashirt zinc finger homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22152683[PMID]","hgnc":"10669","ensembl":"ENSG00000179981","omim":"614427","loci":["18q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[],"phenotypes":null}