{"orpha":93976,"name":"Anotia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93976/","orphanet_url":"https://www.orpha.net/en/disease/detail/93976","names":{"fr":{"name":"Anotie","definition":"L'anotie est une malformation congénitale de l'oreille externe et la forme la plus extrême de microtie, caractérisée par une absence complète de l'oreille externe et du conduit auditif, une surdité de conduction, des troubles du déficit de l'attention et un retard de l'acquisition du langage."},"de":{"name":"Anotie","definition":"Die Anotie ist eine angeborene Fehlbildung des äußeren Ohres und die extremste Form der Mikrotie (siehe dort). Das äußere Ohr und der Gehörgang fehlen vollständig, es besteht eine Schallleitungs-Schwerhörigkeit. Die Patienten haben eine Aufmerksamkeitsstörung, die Sprachentwicklung ist verzögert."},"es":{"name":"Anotia","definition":"Es una malformación congénita del oído externo y la forma más extrema de microtia caracterizada por la ausencia completa del oído externo y del conducto auditivo, pérdida de audición conductiva, trastornos de déficit de atención y retraso en el desarrollo del lenguaje."},"it":{"name":"Anotia","definition":"L'anotia è un difetto congenito dell'orecchio esterno e rappresenta la forma più grave di microtia (si veda questo termine). È caraterizzata dall'assenza completa dell'orecchio esterno e del condotto uditivo, sordità conduttiva, deficit dell'attenzione e ritardo nel linguaggio."},"nl":{"name":"Anotie","definition":"Een congenitale malformatie van uitwendig oor en de meest extreme vorm van microtie, gekarakteriseerd door volledige afwezigheid van het uitwendige oor en de gehoorgang, conductief gehoorverlies, aandachtstekortstoornissen en vertraagde taalontwikkeling."},"pt":{"name":"Anotia"},"pl":{"name":"Brak uszu"},"cs":{"name":"Anotie"},"uk":{"name":"Анотія","definition":"A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development."},"zh":{"name":"无耳畸形","definition":"一种先天性外耳畸形，是小耳畸形的最极端形式，其特征是外耳和耳道完全缺失、传导性听力丧失、注意力缺陷障碍和语言发育迟缓。"},"tr":{"name":"Anosya"}},"xrefs":[{"source":"OMIM","code":"600674","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q16.0","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q16.1","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA22.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2056675356"},{"source":"MONDO","code":"0019780","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0702139","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10002654","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":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"France","status":"Validated","source":"8933331[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.03,"area":"Italy","status":"Validated","source":"7666397[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.03,"area":"Specific population","status":"Validated","source":"16359491[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.028,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.04,"area":"France","status":"Validated","source":"8933331[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"United States","status":"Validated","source":"8933331[PMID]_19760683[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"Finland","status":"Validated","source":"17548114[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Finland","status":"Validated","source":"17548114[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.05,"area":"Chile","status":"Validated","source":"17186100[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Chile","status":"Not yet validated","source":"17186100[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Italy","status":"Not yet validated","source":"7666397[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"Sweden","status":"Validated","source":"8933331[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Sweden","status":"Validated","source":"8933331[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"United States","status":"Validated","source":"8933331[PMID]_19760683[PMID]"}],"phenotypes":null}