{"orpha":2489,"name":"Upper limb defect-eye and ear abnormalities syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2489/","orphanet_url":"https://www.orpha.net/en/disease/detail/2489","names":{"fr":{"name":"Anomalies du membre supérieur, de l'oeil et de l'oreille","definition":"Le syndrome d'anomalies du membre supérieur, de l'oeil et de l'oreille associe une anomalie du membre supérieur (pouce hypoplasique avec hypoplasie du métacarpien et des phalanges et un retard de maturation osseuse), un retard de développement, une surdité d'origine centrale, un antihélix peu développé, un colobome rétinien bilatéral et un retard de croissance."},"de":{"name":"Syndrom der Fehlbildungen der oberen Gliedmaßen mit Augen- und Ohranomalien","definition":"Ein seltenes Syndrom mit multiplen angeborenen Anomalien, das durch Defekte der oberen Gliedmaßen (hypoplastischer Daumen mit Hypoplasie des Mittelhandknochens und der Fingerglieder und verzögerte Knochenreifung), Entwicklungsverzögerung, zentralen Hörverlust, einseitige schlecht entwickelte Antihelix, bilaterales Aderhautkolobom und Wachstumsverzögerung gekennzeichnet ist."},"es":{"name":"Síndrome de defecto de las extremidades superiores-anomalías en ojos y orejas","definition":"Es un síndrome de anomalías congénitas múltiples poco frecuentes caracterizado por defectos de las extremidades superiores (pulgar hipoplásico con hipoplasia del hueso metacarpiano y de las falanges, así como retraso de la maduración ósea), retraso del desarrollo, hipoacusia central, antihélix unilateral infradesarrollado, coloboma coroideo bilateral y retraso del crecimiento."},"it":{"name":"Anomalie degli arti superiori - deficit oculoauricolare"},"nl":{"name":"Bovenste ledemaatdefect - oog- en oorafwijkingen-syndroom","definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekenmerkt door defecten van bovenste ledematen (hypoplastische duim met hypoplasie van metacarpaal bot en falangen en vertraagde botmaturatie), ontwikkelingsachterstand, centraal gehoorverlies, unilateraal weinig ontwikkelde antihelix, bilateraal coloboom van vaatvlies, en groeiretardatie."},"pt":{"name":"Síndrome de defeito nos membros superiores-anomalias nos olhos e ouvidos","definition":"Uma síndrome rara de anomalias congénitas múltiplas caracterizada por defeitos nos membros superiores (polegar hipoplásico com hipoplasia dos metacarpos e falanges e atraso na maturação óssea), atraso no desenvolvimento, perda auditiva neurosensorial, anti-hélice mal desenvolvida unilateralmente, coloboma coroide bilateral e atraso de crescimento."},"pl":{"name":"Wada kończyny górnej - nieprawidłowości oka i ucha"},"cs":{"name":"Syndrom zahrnující defekt horních končetin a abnormality oka a ucha"},"uk":{"name":"Синдром дефекту верхніх кінцівок - аномалії очей та вух","definition":"A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation."},"zh":{"name":"上肢缺陷-眼和耳畸形综合征"},"tr":{"name":"Üst ekstremite defekti-göz ve kulak anormallikleri sendromu"}},"xrefs":[{"source":"OMIM","code":"274205","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010125","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274838","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"1518028[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1518028[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009739","label":"Hypoplasia of the antihelix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null}]}}