{"orpha":93406,"name":"Syndactyly type 5","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Postaxial syndactyly with metacarpal synostosis","SD5"],"definition":"A rare non-syndromic syndactyly characterized by soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits. Shortening of fused metacarpals, ulnar deviation of fingers, interdigital cleft, camptodactyly, short distal phalanges, and absent distal interphalangeal creases have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93406/","orphanet_url":"https://www.orpha.net/en/disease/detail/93406","names":{"fr":{"name":"Syndactylie type 5","synonyms":["Syndactylie postaxiale avec synostose métacarpienne"],"definition":"Syndactylie non-syndromique rare caractérisée par une syndactylie des tissus mous (des troisième et quatrième doigts et des deuxième et troisième orteils) associée à une fusion des métacarpes et métatarses des quatrième et cinquième doigts. Le raccourcissement des métacarpiens fusionnés, la déviation cubitale des doigts, la fente interdigitale, la camptodactylie, les phalanges distales courtes et l'absence de plis interphalangiens distaux ont également été rapportés."},"de":{"name":"Syndaktylie Typ 5","synonyms":["Postaxiale Syndaktylie mit Metakarpal-Synostose"],"definition":"Eiine seltene nicht-syndromale Gliedmaßenfehlbildung,, die durch eine Weichteilsyndaktylie des 3. und 4. Fingers und der 2. und 3. Zehe in Verbindung mit einer Fusion der Mittelhandknochen und Mittelfußknochen der 4. und 5. Finger/Zehen gekennzeichnet ist. Es wurde auch über eine Verkürzung der verschmolzenen Mittelhandknochen, eine Ulnardeviation der Finger, eine Interdigitalspalte, Kamptodaktylie, kurze distale Phalangen und fehlende distale Interphalangealfalten berichtet."},"es":{"name":"Sindactilia tipo 5","synonyms":["SD5","Sindactilia postaxial con sinostosis metacarpiana"],"definition":"Es un trastorno no sindrómico poco frecuente caracterizado por sindactilia de tejidos blandos del tercer y cuarto dedos de la mano y del segundo y tercer dedos del pie asociada a fusión metacarpiana y metatarsiana del cuarto y quinto dedos. También se ha descrito acortamiento de los metacarpianos fusionados, desviación cubital de los dedos de la mano, hendidura interdigital, camptodactilia, falanges distales cortas y ausencia de pliegues interfalángicos distales."},"it":{"name":"Sindattilia, tipo 5","synonyms":["SD5","Sindattilia postassiale con sinostosi metacarpale"]},"nl":{"name":"Syndactylie type 5","synonyms":["Postaxiale syndactylie met metacarpale synostose","SD5"],"definition":"Een zeldzame, niet-syndromale syndactylie, gekarakteriseerd door syndactylie van weke delen van de 3de en 4de vingers en de 2de en 3de tenen, geassocieerd met fusie van metacarpalen en metatarsalen van de 4de en 5de vingers/tenen. Verkorting van gefuseerde metacarpalen, ulnaire deviatie van vingers, interdigitale spleet, camptodactylie, korte distale falangen, en afwezige distale interfalangeale plooien werden ook reeds gerapporteerd."},"pt":{"name":"Sindactilia tipo 5","definition":"A sindactilia tipo 5 (SD5) é uma malformação congénita muito rara dos membros, caracterizada por sindactilia pós-axial das mãos e dos pés, associada à fusão dos metacarpos e metatarsos dos quartos e quintos dígitos."},"pl":{"name":"Syndaktylia typu 5","synonyms":["SD5","Syndaktylia zaosiowa z kościozrostem kości śródręcza"]},"cs":{"name":"Syndaktylie, typ 5","synonyms":["Postaxiální syndaktylie s metakarpální synostózou","SD5"]},"uk":{"name":"Синдактилія, тип 5","synonyms":["Постаксіальна синдактилія з пястковим синостозом","SD5"],"definition":"A rare non-syndromic syndactyly characterized by soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits. Shortening of fused metacarpals, ulnar deviation of fingers, interdigital cleft, camptodactyly, short distal phalanges, and absent distal interphalangeal creases have also been reported."},"zh":{"name":"并指（趾）畸形5型","synonyms":["轴后并指伴掌骨融合"],"definition":"并指/趾畸形5型（SD5）是一种非常罕见的先天性肢体畸形，其特征是轴后并指（趾）畸形，伴有第四、五掌骨和跖骨融合。"},"tr":{"name":"Sindaktili tip 5","synonyms":["SD5","Metakarpal sinostoz ile seyreden postaksiyal sindaktili"]}},"xrefs":[{"source":"OMIM","code":"186300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q70.0","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"Q70.2","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB79.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"283224140"},{"source":"MONDO","code":"0008516","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538155","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861348","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5089","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":"HOXD13","name":"homeobox D13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17236141[PMID]","hgnc":"5136","ensembl":"ENSG00000128714","omim":"142989","loci":["2q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0009701","label":"Metacarpal synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001440","label":"Metatarsal synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006097","label":"3-4 finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null}]}}