{"orpha":93404,"name":"Syndactyly type 3","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["SD3","Syndactyly of fingers 4 and 5"],"definition":"A rare non-syndromic syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers. In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The middle phalanx of the fifth finger is usually hypoplastic, and the feet are not affected.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93404/","orphanet_url":"https://www.orpha.net/en/disease/detail/93404","names":{"fr":{"name":"Syndactylie type 3","synonyms":["SD3","Syndactylie du 4ème et 5ème doigt"],"definition":"Syndactylie non-syndromique caractérisée par une syndactylie complète et bilatérale entre les quatrième et cinquième doigts. Dans la plupart des cas, il s'agit d'une syndactylie des tissus mous, mais, parfois, une fusion des phalanges distales est présente. La phalange moyenne du cinquième doigt est généralement hypoplastique, et les pieds ne sont pas touchés."},"de":{"name":"Syndaktylie Typ 3","synonyms":["Syndaktylie der Finger 4 und 5"],"definition":"Eiine seltene nicht-syndromale Gliedmaßenfehlbildung, die durch eine vollständige und bilaterale Syndaktylie zwischen den 4.ten und 5.ten Finger gekennzeichnet ist. In den meisten Fällen handelt es sich um eine Weichteilsyndaktylie, aber gelegentlich können die Endglieder miteinander verschmolzen sein. Das Mittelglied des fünften Fingers ist gewöhnlich hypoplastisch, und die Füße sind nicht betroffen."},"es":{"name":"Sindactilia tipo 3","synonyms":["SD3","Sindactilia en los dedos 4 y 5"],"definition":"Es una sindactilia no sindrómica poco frecuente caracterizada por sindactilia completa y bilateral entre el cuarto y quinto dedos de la mano. En la mayoría de los casos, es una sindactilia de tejidos blandos, pero en ocasiones las falanges distales pueden fusionarse. La falange media del quinto dedo de la mano suele ser hipoplásica y los pies no se ven afectados."},"it":{"name":"Sindattilia, tipo 3","synonyms":["SD3","Sindattilia delle IV e V dita"]},"nl":{"name":"Syndactylie type 3","synonyms":["SD3","Syndactylie van vingers 4 en 5"],"definition":"Een zeldzame, niet-syndromale syndactylie, gekarakteriseerd door volledige en bilaterale syndactylie tussen de 4de en 5de vingers. In de meeste gevallen gaat het om syndactylie van weke delen, maar soms kan fusie van distale falangen voorkomen. De middelste falanx van de vijfde vinger is meestal hypoplastisch, en voeten worden niet aangetast."},"pt":{"name":"Sindactilia tipo 3","definition":"A sindactilia tipo 3 (SD3) é uma malformação congénita rara dos membros distais caracterizada por sindactilia completa e bilateral entre os 4º e 5º dedos das mãos."},"pl":{"name":"Syndaktylia typu 3","synonyms":["SD3","Syndaktylia 4 i 5 palca"]},"cs":{"name":"Syndaktylie, typ 3","synonyms":["SD3","Syndaktylie 4. a 5. prstu ruky"]},"uk":{"name":"Синдактилія, тип 3","synonyms":["SD3","Синдактилія 4 та 5 пальців"],"definition":"A rare non-syndromic syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers. In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The middle phalanx of the fifth finger is usually hypoplastic, and the feet are not affected."},"zh":{"name":"并指（趾）畸形3型","synonyms":["并指（趾）畸形4型和5型"],"definition":"并指畸形3型（SD3）是一种罕见的先天性远端肢体畸形，其特征是第四和第五指之间完全的双侧并指畸形。"},"tr":{"name":"Sindaktili tip 3","synonyms":["SD3","4. ve 5. parmakların sindaktilisi"]}},"xrefs":[{"source":"OMIM","code":"186100","qualifier":"E","icd_relation":null,"validated":true},{"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":"144846004"},{"source":"MONDO","code":"0008514","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538154","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861366","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5088","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":[{"symbol":"GJA1","name":"gap junction protein alpha 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12457340[PMID]_14729836[PMID]","hgnc":"4274","ensembl":"ENSG00000152661","omim":"121014","loci":["6q22.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Occasional (29-5%)","criteria":null}]}}