{"orpha":162526,"name":"Isolated congenital auditory ossicle malformation","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital auditory ossicle malformation without external ear abnormality"],"definition":"Isolated congenital auditory ossicle malformation is a rare, congenital, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non-progressive, conductive hearing loss often associated with speech delay and poor school performance.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-162526/","orphanet_url":"https://www.orpha.net/en/disease/detail/162526","names":{"fr":{"name":"Malformation congénitale isolée de la chaîne ossiculaire","synonyms":["Malformation ossiculaire sans anomalie du canal auditif externe"],"definition":"La malformation congénitale isolée de la chaîne ossiculaire est une anomalie congénitale rare de l'oreille moyenne. Elle est souvent unilatérale et sporadique, et se caractérise par des variations en nombre, taille et/ou configuration des osselets, sans anomalie de l'oreille externe et de la membrane du tympan, et sans antécédent d'infection ou de traumatisme. Les signes sont tardifs, se manifestant habituellement après l'entrée à l'école par une surdité de conduction non progressive, souvent associée à un retard de la parole et de mauvais résultats scolaires."},"de":{"name":"Fehlbildung der Gehörknöchelchen, kongenitale, isolierte","definition":"Die isolierte kongenitale Gehörknöchelchenfehlbildung ist eine seltene, angeborene Mittelohranomalie, die durch meist einseitige und sporadische Variationen in der Anzahl, Größe und/oder Konfiguration der Gehörknöchelchen gekennzeichnet ist, ohne Trommelfell- und Außenohranomalien und ohne Trauma oder Infektion in der Vorgeschichte. Die Patienten stellen sich häufig erst spät vor, nachdem die Schule begonnen hat, mit einer nicht-progressiven Schallleitungsschwerhörigkeit, die oft mit Sprachverzögerung und schlechten Schulleistungen einhergeht."},"es":{"name":"Malformación congénita aislada de los osículos auditivos","synonyms":["Malformación congénita de los osículos auditivos sin anomalías del oído externo"],"definition":"La malformación de la cadena osicular congénita aislada es una anomalía congénita poco frecuente del oído medio, caracterizada por variaciones generalmente unilaterales y esporádicas en el número, tamaño y/o configuración de los osículos, sin anomalías del oído externo ni de la membrana timpánica y sin historial de trauma o infección. Con frecuencia, los afectados presentan tardíamente, tras iniciar su escolarización, hipoacusia conductiva, no progresiva, a menudo asociada con retraso del habla y bajo rendimiento escolar."},"it":{"name":"Malformazione congenita isolata degli ossicini dell'orecchio","synonyms":["Malformazione congenita degli ossicini dell'orecchio medio senza anomalie dell'orecchio esterno"],"definition":"La malformazione congenita isolata degli ossicini dell'orecchio è un'anomalia congenita rara dell'orecchio medio; è caratterizzata da anomalie, di solito monolaterali e sporadiche, nel numero, nelle dimensioni e/o nella configurazione degli ossicini, in assenza di anomalie della membrana del timpano e dell'orecchio esterno o di traumi/infezioni. Di solito l'esordio è tardivo, successivo all'inizio della scuola; i pazienti presentano sordità di conduzione non progressiva, spesso associata a ritardo nell'acquisizione del linguaggio e a scarso rendimento scolastico."},"nl":{"name":"Geïsoleerde congenitale gehoorbeentjesmalformatie","synonyms":["Congenitale gehoorbeentjemalformatie zonder externe oorafwijking"],"definition":"Geïsoleerde congenitale malformatie van de gehoorbeentjes is een zeldzame, congenitale anomalie van het middenoor dat gekarakteriseerd wordt door meestal unilaterale en sporadische variaties in het aantal, de omvang en/of de configuratie van de gehoorbeentjes, zonder afwijkingen aan het trommelvlies en het buitenoor, en geen voorgeschiedenis van trauma of infectie. Patiënten vertonen vaak laat, nadat de scholing is begonnen, niet-progressief conductief gehoorverlies dat vaak is geassocieerd met een spraakachterstand en slechte prestaties op school."},"pt":{"name":"Malformação auditiva ossicular congénita, isolada"},"pl":{"name":"Izolowana wrodzona malformacja kosteczek słuchowych","synonyms":["Wrodzona malformacja kosteczek słuchowych bez nieprawidłowości ucha zewnętrznego"]},"cs":{"name":"Izolovaná vrozená vada ušních kůstek","synonyms":["Vrozené vady ušních kůstek bez abnormalit vnějšího ucha"]},"uk":{"name":"Ізольована вроджена вада слухової кісточки","synonyms":["Вроджена вада слухової кісточки без аномалії зовнішнього вуха"],"definition":"Isolated congenital auditory ossicle malformation is a rare, congenital, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non-progressive, conductive hearing loss often associated with speech delay and poor school performance."},"zh":{"name":"孤立性先天性听骨畸形","synonyms":["先天性听小骨畸形不伴外耳畸形"],"definition":"孤立性先天性听小骨畸形是一种罕见的先天性中耳畸形，其特征是听小骨的数目、大小和/或形态通常是单侧、散在和变异的，没有鼓膜和外耳异常，也没有外伤或感染史。患者症状迟发，上学后开始出现，表现为非进行性传导性听力丧失，且常与言语迟缓和学习成绩不佳有关。"},"tr":{"name":"İzole doğumsal işitsel kemikçik malformasyonu","synonyms":["Eksternal kulak anormalliği iile seyretmeyen doğumsal işitsel kemikçik malformasyonu"]}},"xrefs":[{"source":"ICD-10","code":"Q16.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA22.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"238760163"},{"source":"MONDO","code":"0015570","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0158587","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10010341","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":164004,"name":"Middle and/or inner ear anomaly","classifications":[147,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}