{"orpha":295016,"name":"Camptodactyly of fingers","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-295016/","orphanet_url":"https://www.orpha.net/en/disease/detail/295016","names":{"fr":{"name":"Camptodactylie des doigts","definition":"La camptodactylie des doigts est un trouble génétique rare, congénital et non syndromique de malformation des membres. Elle se caractérise par une flexion permanente indolore, souvent bilatérale, non traumatique et non neurogène, au niveau de l'articulation proximale interphalangée d'un doigt postaxial. Elle conduit à une inclinaison volaire permanente du doigt affecté. Le cinquième doigt est toujours atteint, mais d'autres doigts peuvent aussi être affectés."},"de":{"name":"Kamptodaktylie der Finger","definition":"Die Kamptodaktylie der Finger ist eine seltene, genetisch bedingte, nicht-syndromale angeborene Gliedmaßenfehlbildung. Sie ist gekennzeichnet durch eine schmerzlose, nicht-traumatische, nicht-neurogene, oft beidseitige, permanente Beugekontraktur am proximalen Interphalangealgelenk eines postaxialen Fingers, die zu einer permanenten volaren Neigung des betroffenen Fingers führt. Der fünfte Finger ist immer betroffen, es können aber auch weitere Finger beteiligt sein."},"es":{"name":"Camptodactilia de los dedos de la mano","definition":"La camptodactilia de los dedos de las manos es un trastorno congénito de malformación de las extremidades no-sindrómico, genético y poco frecuente, caracterizado por una contractura de flexión permanente, indolora, no-traumática, no-neurogénica, con frecuencia bilateral, de la articulación interfalángica proximal de un dedo postaxial, provocando la inclinación del dedo afectado. El quinto dedo siempre está afectado pero también pueden verse afectados otros dedos."},"it":{"name":"Camptodattilia delle dita delle mani","definition":"La camptodattilia delle dita delle mani è una malformazione rara congenita non sindromica degli arti, di origine genetica, caratterizzata dalla contrattura in flessione permanente indolore, non traumatica, non neurogena e spesso bilaterale dell'articolazione interfalangea prossimale di un dito postassiale, che esita in un'inclinazione volare permanente del dito interessato. Il quinto dito è sempre interessato, e possono essere interessate altre dita."},"nl":{"name":"Camptodactylie van vingers","definition":"Camptodactylie van de vingers is een zeldzame, genetische, niet-syndromale, congenitale malformatie van de ledematen die gekarakteriseerd wordt door een pijnloze, niet-traumatische, niet-neurogene, vaak bilaterale, permanente flexiecontractuur ter hoogte van het proximale interfalangeale gewricht van een postaxiale vinger, met permanente volaire kanteling van de getroffen vinger tot gevolg. De vijfde vinger is altijd betrokken, maar bijkomende vingers kunnen ook getroffen worden."},"pt":{"name":"Camptodactilia dos dedos da mão"},"pl":{"name":"Kamptodaktylia palców dłoni"},"cs":{"name":"Kamptodaktylie prstů ruky"},"uk":{"name":"Камптодактилія пальців рук","definition":"Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected."},"zh":{"name":"驼指畸形","definition":"手指屈曲畸形是一种罕见的、遗传性非综合征性先天肢体畸形疾病，其特征是轴后指近端指间关节出现无痛性、非创伤性、非神经源性双侧性永久屈曲挛缩，导致患指永久性掌侧屈曲。第五指都受累，其他手指也可受累。"},"tr":{"name":"Parmak kamptodaktilisi"}},"xrefs":[{"source":"OMIM","code":"114200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q68.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB80.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1449348512"},{"source":"MONDO","code":"0007250","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5551400","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9448","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294947,"name":"Congenital deformities of fingers","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}