{"orpha":93403,"name":"Syndactyly type 2","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Synpolydactyly"],"definition":"A rare non-syndromic syndactyly characterized by a distinctive combination of syndactyly and polydactyly, generally affecting the 3rd and 4th fingers and the 4th and 5th toes, bilaterally, with partial or complete reduplication of a digital ray within the syndactylous web. Additional features include 5th finger clinodactyly, camptodactyly and/or brachydactyly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93403/","orphanet_url":"https://www.orpha.net/en/disease/detail/93403","names":{"fr":{"name":"Syndactylie type 2","synonyms":["Synpolydactylie"],"definition":"Syndactylie non-syndromique rare caractérisée par l'association d'une syndactylie et d'une polydactylie affectant généralement de manière bilatérale les troisième et quatrième doigts et les quatrième et cinquième orteils, associée à une duplication partielle ou complète du rayon au sein de la commissure fusionnée. Les autres signes incluent une clinodactylie du cinquième doigt, une camptodactylie et/ou une brachydactylie."},"de":{"name":"Syndaktylie Typ 2","synonyms":["Synpolydaktylie"],"definition":"Eiine seltene nicht-syndromale Gliedmaßenfehlbildung, die durch eine ausgeprägte Kombination von Syndaktylie und Polydaktylie gekennzeichnet ist. In den meisten Fällen betrifft die Syndaktylie beiderseits die Finger III und IV und die Zehen IV und V, mit teilweiser oder vollständiger Verdoppelung eines Zehenstrahls innerhalb des gemeinsamen Gewebes.Weitere Merkmale sind Klinodaktylie des 5. Fingers, Kamptodaktylie und/oder Brachydaktylie."},"es":{"name":"Sindactilia tipo 2","definition":"Es una sindactilia no sindrómica poco frecuente caracterizada por una combinación distintiva de sindactilia y polidactilia, que generalmente afecta al tercer y cuarto dedos de la mano y al cuarto y quinto dedos del pie, de forma bilateral, con reduplicación parcial o completa de un rayo digital dentro de la membrana. Otras características adicionales incluyen clinodactilia del quinto dedo, camptodactilia y/o braquidactilia."},"it":{"name":"Sindattilia, tipo 2","synonyms":["Sinpolidattilia"]},"nl":{"name":"Syndactylie type 2","synonyms":["Synpolydactylie"],"definition":"Een zeldzame, niet-syndromale syndactylie, gekarakteriseerd door een typische combinatie van syndactylie en polydactylie, die doorgaans de 3de en 4de vingers en de 4de en 5de tenen bilateraal aantasten, met partiële of complete reduplicatie van een digitale straal in het syndactylie-web. Bijkomende kenmerken zijn onder meer clinodactylie, camptodactylie en/of brachydactylie van 5de vinger."},"pt":{"name":"Sindactilia tipo 2","definition":"A sindactilia tipo 2 ou sinpolidactilia (SPD) é uma malformação congénita rara da região distal dos membros caracterizada pela combinação de sindactilia e polidactilia."},"pl":{"name":"Syndaktylia typu 2","synonyms":["Syndaktylia"]},"cs":{"name":"Syndaktylie, typ 2","synonyms":["Synpolydaktylie"]},"uk":{"name":"Синдактилія, тип 2","synonyms":["Синполідактилія"],"definition":"A rare non-syndromic syndactyly characterized by a distinctive combination of syndactyly and polydactyly, generally affecting the 3rd and 4th fingers and the 4th and 5th toes, bilaterally, with partial or complete reduplication of a digital ray within the syndactylous web. Additional features include 5th finger clinodactyly, camptodactyly and/or brachydactyly."},"zh":{"name":"并指（趾）畸形2型","synonyms":["并指（趾）畸形"],"definition":"并指畸形2型或并多指畸形（SPD）是一种罕见的先天性远端肢体畸形，其特点是同时有并指和多指。"},"tr":{"name":"Sindaktili tip 2","synonyms":["Sinpolidaktili"]}},"xrefs":[{"source":"OMIM","code":"608180","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610234","qualifier":"BTNT","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":"804340884"},{"source":"MONDO","code":"0021651","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"21651","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538153","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2699746","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5087","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":[{"orpha":295195,"name":"Synpolydactyly type 1","type":"Clinical subtype"},{"orpha":295197,"name":"Synpolydactyly type 2","type":"Clinical subtype"},{"orpha":295199,"name":"Synpolydactyly type 3","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"FBLN1","name":"fibulin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22448207[PMID]_11836357[PMID]","hgnc":"3600","ensembl":"ENSG00000077942","omim":"135820","loci":["22q13.31"],"via":{"orpha":295197,"name":"Synpolydactyly type 2"}},{"symbol":"HOXD13","name":"homeobox D13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22448207[PMID]","hgnc":"5136","ensembl":"ENSG00000128714","omim":"142989","loci":["2q31.1"],"via":{"orpha":295195,"name":"Synpolydactyly type 1"}}],"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":"22333904[PMID]_22448207[PMID]","terms":[{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006097","label":"3-4 finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","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":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001830","label":"Postaxial foot polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009773","label":"Symphalangism affecting the phalanges of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100260","label":"Mesoaxial polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001841","label":"Preaxial foot polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Occasional (29-5%)","criteria":null}]}}