{"orpha":157962,"name":"Oculoauricular syndrome, Schorderet type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-157962/","orphanet_url":"https://www.orpha.net/en/disease/detail/157962","names":{"fr":{"name":"Syndrome oculo-auriculaire type Schorderet","definition":"Le syndrome oculo-auriculaire type Schorderet est un trouble génétique rare du développement survenant au cours de l'embryogenèse. Il se caractérise par diverses anomalies ophtalmiques (incluant une microphtalmie congénitale, une microcornée, une cataracte, une dysgénésie du segment antérieur, un colobome oculaire et une dystrophie précoce des cônes et des bâtonnets) et par des oreilles externes anormales (auricule basse avec une hélice froissée, incisure intertragique, pont anormal connectant la branche de l'hélice à l'anti-hélice, méat acoustique externe étroit, aplasie lobulaire)."},"de":{"name":"Okuloaurikuläres Syndrom Typ Schorderet","definition":"Das okuloaurikuläre Syndrom Typ Schorderet ist ein seltener, genetisch bedingter Entwicklungsdefekt während der Embryogenese. Das Syndrom ist gekennzeichnet durch verschiedene ophthalmische Anomalien (u.a. kongenitaler Mikrophthalmus, Mikrokornea, Katarakt, Dysgenesie des vorderen Segments, Augenkolobom und früh einsetzende Stäbchen-Zapfen-Dystrophie) und Anomalien des äußeren Ohres (tief angesetzte Ohrmuschel mit zerknitterter Helix, schmale intertragale Kerbe, abnorme Brücke zwischen der Ohrmuschelwindung und der Antihelix, schmaler äußerer Gehörgang und Läppchenaplasie)."},"es":{"name":"Síndrome oculoauricular tipo Schorderet","definition":"El síndrome oculoauricular, tipo Schorderet, es un defecto genético del desarrollo durante la embriogénesis poco frecuente caracterizado por diversas anomalías oftálmicas (incluyendo microftalmia congénita, microcórnea, catarata, disgenesia del segmento anterior, coloboma ocular y distrofia de conos-bastones de inicio temprano) y anomalías auriculares externas (pinna de baja implantación con hélix arrugado, escotaduras intertrágicas estrechas, anomalía del puente que conecta el crus del hélix y el anti-hélix, meato auditivo externo estrecho y aplasia del lóbulo)."},"it":{"name":"Sindrome oculoauricolare, tipo Schorderet","definition":"La sindrome oculoauricolare tipo Schorderet è un difetto genetico raro dello sviluppo dell'embrione, caratterizzato da diverse anomalie oculari (microftalmia congenita, microcornea, cataratta, disgenesia del segmento anteriore, coloboma oculare e distrofia dei coni e dei bastoncelli ad esordio precoce) e anomalie dell'orecchio esterno (aumento della plicatura dell'elice, incisure intertragiche strette, anomalie del ponte che collega la radice dell'elice e dell'anti-elice, meato acustico esterno stretto e aplasia del lobo)."},"nl":{"name":"Oculo-auriculair syndroom, Schorderet-type","definition":"Oculo-auriculair syndroom, Schorderet-type is een zeldzaam, genetisch syndroom met een ontwikkelingsdefect tijdens de embryogenese dat gekarakteriseerd wordt door verscheidene oftalmische anomalieën (waaronder congenitale microftalmie, microcornea, cataract, dysgenesie van het voorste oogsegment, oculair coloboom kegel-staafdystrofie met vroege aanvang) en abnormale buitenoren (laagstaande oorschelpen met verkreukelde helices, smalle insicura intertragica (inkeping tussen tragus en antitragus), abnormale brug tussen de crus helicis en de antihelix, smalle uitwendige gehoorgang, aplasie van de oorlellen)."},"pt":{"name":"Síndrome oculoauricular, tipo Schorderet"},"pl":{"name":"Zespół oczno-uszny typu Schordereta"},"cs":{"name":"Okuloaurikulární syndrom, Schorderetův typ"},"uk":{"name":"Окулоаурикулярний синдром, тип Шордера","definition":"Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia)."},"zh":{"name":"眼耳综合征","definition":"Schorderet型眼耳综合征是一种罕见的遗传性胚胎发育缺陷综合征，其特征是多种眼部异常(包括先天性小眼畸形、小角膜、白内障、眼前节发育不良、眼缺损和早发性视杆视锥营养不良)和异常外耳(低位耳廓伴螺旋线皱缩、耳屏间切迹狭窄、耳轮脚和对耳轮连接异常、外耳道狭窄和小叶发育不良)。"},"tr":{"name":"Oküloauriküler sendrom, Schorderet tipi"}},"xrefs":[{"source":"OMIM","code":"612109","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD21.0","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0012802","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706592","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":202948,"name":"Syndromic microphthalmia-anophthalmia-coloboma","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"HMX1","name":"H6 family homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18423520[PMID]_25574057[PMID]","hgnc":"5017","ensembl":"ENSG00000215612","omim":"142992","loci":["4p16.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"18423520[PMID]_25574057[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18423520[PMID]_25574057[PMID]"}],"phenotypes":null}