{"orpha":93402,"name":"Syndactyly type 1","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare non-syndromic syndactyly characterized by complete or partial webbing between the 3rd and 4th fingers and/or the 2nd and 3rd toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93402/","orphanet_url":"https://www.orpha.net/en/disease/detail/93402","names":{"fr":{"name":"Syndactylie type 1","definition":"Syndactylie non-syndromique rare caractérisée par une fusion complète ou partielle des troisième et quatrième doigts et/ou des deuxième et troisième orteils. Les autres doigts peuvent parfois être atteints. Le phénotype est très variable entre les individus d'une même famille et entre les familles affectées : parfois, seules les mains sont affectées et parfois seuls les pieds le sont. La fusion des doigts peut être associée à une fusion osseuse des phalanges distales."},"de":{"name":"Syndaktylie Typ 1","definition":"Eiine seltene nicht-syndromale Gliedmaßenfehlbildung, die durch komplette oder partielle häutiger Syndaktylie der Finger III/IV und der Zehen II/III gekennzeichnet ist. Gelegentlich können auch andere Finger betroffen sein. Der Phänotyp variiert stark innerhalb und zwischen Familien, manchmal sind nur die Hände, manchmal nur die Füße betroffen. Das Zusammenwachsen der Finger kann mit einer knöchernen Verschmelzung der Endglieder verbunden sein."},"es":{"name":"Sindactilia tipo 1","definition":"Es una sindactilia no sindrómica poco frecuente caracterizada por membranas completas o parciales entre el tercer y cuarto dedos de la mano y/o el segundo y tercer dedos del pie. Ocasionalmente pueden haber otros dedos afectados. El fenotipo varía ampliamente dentro y entre familias, con afectación, en algunas ocasiones, de las manos o de los pies únicamente. Las membranas entre los dedos pueden estar asociadas con la fusión ósea de las falanges distales."},"it":{"name":"Sindattilia, tipo 1"},"nl":{"name":"Syndactylie type 1","definition":"Een zeldzame, niet-syndromale syndactylie, gekarakteriseerd door volledige of gedeeltelijke syndactylie tussen 3de en 4de vingers en/of 2de en 3de tenen. Occasioneel kunnen andere vingers/tenen betrokken zijn. Het fenotype varieert sterk binnen en tussen families, en soms zijn enkel de handen aangetast en soms enkel de voeten. Syndactylie van vingers kan geassocieerd zijn met fusie van bot van distale falangen."},"pt":{"name":"Sindactilia tipo 1","definition":"A sindactilia tipo 1 (SD1), também designada no passado por zigodactilia,, é uma malformação da região distal dos membros caracterizada por fusão total ou parcial entre os 3º e 4º dedos das mãos e/ou 2º e 3º dos dedos dos pés."},"pl":{"name":"Syndaktylia typu 1"},"cs":{"name":"Syndaktylie, typ 1"},"uk":{"name":"Синдактилія, тип 1","definition":"A rare non-syndromic syndactyly characterized by complete or partial webbing between the 3rd and 4th fingers and/or the 2nd and 3rd toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges."},"zh":{"name":"并指（趾）畸形1型","definition":"并指/指畸形1型（SD1）过去也被称为并指（zygodactyly），是一种肢体远端畸形，特征是第3和第4指和/或第2和第3趾之间的完全或部分蹼状结构。"},"tr":{"name":"Sindaktili tip 1"}},"xrefs":[{"source":"OMIM","code":"185900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q70.1","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"Q70.3","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB79.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1841508645"},{"source":"MONDO","code":"0008512","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566096","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861380","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5081","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":295187,"name":"Zygodactyly type 1","type":"Clinical subtype"},{"orpha":295189,"name":"Zygodactyly type 2","type":"Clinical subtype"},{"orpha":295191,"name":"Zygodactyly type 3","type":"Clinical subtype"},{"orpha":295193,"name":"Zygodactyly type 4","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"HOXD13","name":"homeobox D13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24789103[PMID]","hgnc":"5136","ensembl":"ENSG00000128714","omim":"142989","loci":["2q31.1"],"via":{"orpha":295191,"name":"Zygodactyly type 3"}}],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":25.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-08-14","source":"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:0001770","label":"Toe syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009773","label":"Symphalangism affecting the phalanges of the hand","frequency":"Occasional (29-5%)","criteria":null}]}}