{"orpha":294988,"name":"Isolated hypoplasia of thumb","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated congenital absence/hypoplasia of thumb","Isolated congenital thumb hypodactyly","Isolated congenital thumb oligodactyly"],"definition":"A rare congenital malformation characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-294988/","orphanet_url":"https://www.orpha.net/en/disease/detail/294988","names":{"fr":{"name":"Hypoplasie isolée du pouce","synonyms":["Absence/hypoplasie congénitale isolée du pouce","Hypodactylie du pouce isolée","Oligodactylie du pouce isolée"],"definition":"Anomalie congénitale rare caractérisée par un pouce sous-développé, dont l'aspect varie d'un pouce de taille légèrement réduite à l'absence complète du pouce. La malformation peut être isolée, associée à d'autres anomalies de la main ou du membre supérieur, ou elle peut faire partie d'un syndrome d'anomalies congénitales multiples."},"de":{"name":"Daumenhypoplasie, isolierte","synonyms":["Isolierte kongenitale Daumenhypodaktylie","Isolierte kongenitale Oligodaktylie des Daumens","Isoliertes angeborenes Fehlen des Daumens"],"definition":"Eine seltene angeborene Fehlbildung, die durch eine Unterentwicklung des Daumens gekennzeichnet ist und von einer leichten Verkleinerung des Daumens bis hin zum völligen Fehlen des Daumens reichen kann. Die Fehlbildung kann isoliert auftreten, mit anderen Defekten der Hand oder der oberen Extremität kombiniert sein oder als Teil eines Syndroms mit mehreren angeborenen Anomalien auftreten."},"es":{"name":"Hipoplasia aislada del pulgar","synonyms":["Ausencia/hipoplasia congénita aislada del pulgar","Hipodactilia congénita aislada del pulgar","Oligodactilia congénita aislada del pulgar"],"definition":"Es una malformación congénita poco frecuente caracterizada por infradesarrollo del dedo pulgar, fluctuando desde una leve disminución del tamaño del pulgar hasta la ausencia completa del mismo. La malformación puede producirse de forma aislada, combinada con otros defectos de las manos o de las extremidades superiores, o como parte de un síndrome complejo de anomalías congénitas múltiples."},"it":{"name":"Ipoplasia isolata del pollice","synonyms":["Aplasia/ipoplasia congenita isolata del pollice","Ipodattilia congenita isolata del pollice","Oligodattilia congenita isolata del pollice"],"definition":"L'assenza/ipoplasia congenita del pollice è un difetto genetico raro dello sviluppo dell'embrione, caratterizzato dall'iposviluppo del pollice, che va dalla lieve ipoplasia, all'ipoplasia completa. La malformazione può essere isolata, associata ad altri difetti delle mani o degli arti superiori, oppure rientrare in una sindrome da anomalie congenite multiple."},"nl":{"name":"Geïsoleerde hypoplasie van duim","synonyms":["Geïsoleerde congenitale afwezigheid/hypoplasie van duim","Geïsoleerde congenitale hypodactylie van duim","Geïsoleerde congenitale oligodactylie van duim"],"definition":"Een zeldzame congenitale malformatie, gekenmerkt door onderontwikkeling van duim, gaande van minieme afname van grootte van duim tot volledige afwezigheid van duim. De malformatie kan geïsoleerd voorkomen, of in combinatie met andere afwijkingen van hand of bovenste ledemaat, of als onderdeel van een syndroom met meervoudige congenitale anomalieën."},"pt":{"name":"Hipoplasia do polegar isolada","synonyms":["Ausência/hipoplasia do polegar isolada congénita","Hipodactilia do polegar isolada congénita","Oligodactilia do polegar isolada congénita"]},"pl":{"name":"Izolowany niedorozwój kciuka","synonyms":["Hipodaktylia kciuka","Oligodaktylia kciuka"]},"cs":{"name":"Vrozená absence/hypoplázie palce ruky","synonyms":["Hypodaktylie palce ruky","Oligodaktylie palce ruky"]},"uk":{"name":"Ізольована гіпоплазія великого пальця","synonyms":["Ізольована вроджена відсутність/гіпоплазія великого пальця","Ізольована вроджена гіподактилія великого пальця","Ізольована вроджена олігодактилія великого пальця"],"definition":"A rare congenital malformation characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome."},"zh":{"name":"先天性拇指发育不全","synonyms":["先天性拇指缺如/发育不全"],"definition":"先天性无/拇指发育不全是一种罕见的胚胎发育缺陷，其特征是拇指发育不全，从拇指略微减小至完全缺如。此畸形可为孤立的，合并手部或上肢其他缺陷，也可为多发性先天性异常综合征的一部分。"},"tr":{"name":"Doğumsal başparmak hipoplazisi","synonyms":["Başparmak hipodaktilisi","Başparmak oligodaktilisi","Doğumsal yokluk / baş parmak hipoplazisi"]}},"xrefs":[{"source":"ICD-10","code":"Q71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB99.7","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1410606584"},{"source":"UMLS","code":"C5925024","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295110,"name":"OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral","status":"inactive"},{"type":"Referred to","orpha":295112,"name":"OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498457,"name":"Non-syndromic longitudinal limb defect","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}