{"orpha":295012,"name":"Syndactyly type 6","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Mitten hand","Syndactyly, mitten type","Unilateral syndactyly of digits 2-5"],"definition":"A rare non-syndromic syndactyly characterized by unilateral fusion of 2nd to 5th fingers, amalgamation of distal phalanges in a knot-like structure, and fusion of the 2nd and 3rd toe. Some individuals present only with webbing between the 2nd and 3rd toes, without involvement of fingers.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-295012/","orphanet_url":"https://www.orpha.net/en/disease/detail/295012","names":{"fr":{"name":"Syndactylie type 6","synonyms":["Main en mitaine","Syndactylie type mitaine","Syndactylie unilatérale des doigts 2-5"],"definition":"La syndactylie type 6 est un trouble génétique malformatif des membres, congénitale, non syndromique et rare. Elle se caractérise par la fusion unilatérale du deuxième au cinquième doigt, un amalgame des phalanges distales en une structure ressemblant à un noeud, et la fusion du deuxième et troisième orteil. Certains patients présentent seulement les deuxième et troisième orteils palmés, sans atteinte des doigts."},"de":{"name":"Syndaktylie Typ 6","synonyms":["Syndaktylie, Typ Mitten","Unilaterale Syndaktylie der Digitalen 2-5"],"definition":"Eiine seltene nicht-syndromale Gliedmaßenfehlbildung, die durch eine einseitige Fusion des zweiten bis fünften Fingers, eine Verschmelzung der distalen Phalangen in einer knotenartigen Struktur und eine Fusion der zweiten und dritten Zehe gekennzeichnet ist. Einige Individuen zeigen nur ein Vernetzung zwischen der zweiten und dritten Zehe, ohne Beteiligung der Finger."},"es":{"name":"Sindactilia tipo 6","synonyms":["Mano en manopla","Mano en mitón","Sindactilia tipo manopla","Sindactilia tipo mitón","Sindactilia unilateral de los dedos 2-5"],"definition":"Es una sindactilia no sindrómica poco frecuente caracterizada por la fusión unilateral del segundo al quinto dedos de la mano, fusión de las falanges distales en una estructura con forma de nudo y la fusión del segundo y tercer dedos del pie. Algunos individuos unicamente presentan membranas entre el segundo y tercer dedos del pie, sin afectación de la mano."},"it":{"name":"Sindattilia, tipo 6","synonyms":["Mano a guantone","Sindattilia unilaterale delle dita II-V","Sindattilia, tipo a guantone"],"definition":"La sindattilia tipo 6 è una malformazione rara congenita non sindromica degli arti, di origine genetica, caratterizzata dalla fusione monolaterale del secondo-quinto dito, dalla fusione delle falangi distali che danno origine ad una struttura che ricorda la forma di un nodo, e dalla fusione del secondo e terzo dito del piede. Alcuni pazienti presentano solo un aumento delle pliche interdigitali tra il secondo e il terzo dito del piede, senza interessamento delle dita delle mani."},"nl":{"name":"Syndactylie type 6","synonyms":["Syndactylie, want-type","Unilaterale syndactylie van vingers 2-5","Want-hand"],"definition":"Een zeldzame, niet-syndromale syndactylie, gekarakteriseerd door unilaterale fusie van vingers 2 tot 5, samensmelting van distale falangen in een knoopachtige structuur, en fusie van de 2de en 3de tenen. Sommige individuen vertonen enkel syndactylie van de 2de en 3de tenen, zonder betrokkenheid van vingers."},"pt":{"name":"Sindactilia tipo 6","synonyms":["Mão em luva sem dedos ('mitten')","Sindactilia tipo luvas sem dedos ('mitten')","Sindactilia unilateral dos dedos 2-5"]},"pl":{"name":"Syndaktylia typu 6","synonyms":["Całkowita syndaktylia (objaw rękawicy)","Jednostronna syndaktylia palców 2-5","Syndaktylia, typ rękawiczki"]},"cs":{"name":"Jednostranná syndaktylie 2.-5. prstu","synonyms":["Spojená ruka","Syndaktylie, typ mitten","Syndaktylie, typ 6","Syndaktylie, typ palcové rukavice"]},"uk":{"name":"Синдактилія, тип 6","synonyms":["Рука в рукавичці","Синдактилія, тип рукавиці","Одностороння синдактилія пальців 2-5"],"definition":"A rare non-syndromic syndactyly characterized by unilateral fusion of 2nd to 5th fingers, amalgamation of distal phalanges in a knot-like structure, and fusion of the 2nd and 3rd toe. Some individuals present only with webbing between the 2nd and 3rd toes, without involvement of fingers."},"zh":{"name":"并指6型","synonyms":["2-5指（趾）并指（趾）畸形"],"definition":"并指（趾）畸形6型是一种罕见的遗传性非综合征性先天肢体畸形，其特征为第二至第五指单侧融合，远端指骨结状结构融合及第二、第三趾融合。也有表现仅为第二和第三趾间趾蹼，不累及手指。"},"tr":{"name":"Sindaktili tip 6","synonyms":["Yapışık el","Sindaktili, mitten tip","2-5 parmakların unilateral sindaktilisi"]}},"xrefs":[{"source":"ICD-10","code":"Q70.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB79.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2105806379"},{"source":"MONDO","code":"0017460","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706525","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90025,"name":"Non-syndromic syndactyly","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}