{"orpha":93405,"name":"Syndactyly type 4","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Polysyndactyly, Haas type"],"definition":"A rare non-syndromic syndactyly characterized by complete bilateral cutaneous fusion of all fingers, frequently associated with polydactyly (usually involving six digits and six metacarpals). Phalanges may fuse as a conglomerate mass of bones. Feet are occasionally affected.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93405/","orphanet_url":"https://www.orpha.net/en/disease/detail/93405","names":{"fr":{"name":"Syndactylie type 4","synonyms":["Polysyndactylie type Haas"],"definition":"Syndactylie non syndromique rare caractérisée par une syndactylie complète et bilatérale de tous les doigts de la main. Une polydactylie (6 métacarpes et 6 doigts) est souvent associée. Les phalanges peuvent fusionner et former une masse osseuse distincte. Les pieds sont parfois affectés."},"de":{"name":"Syndaktylie Typ 4","synonyms":["Polysyndaktylie Typ Haas"],"definition":"Eine seltene nicht-syndromale Syndaktylie, die durch eine vollständige beidseitige kutane Verschmelzung aller Finger gekennzeichnet ist und häufig mit Polydaktylie einhergeht (in der Regel sind sechs Finger und sechs Mittelhandknochen betroffen). Die Fingerglieder können zu einer konglomeraten Gewebeverdichtung verschmelzen. Gelegentlich sind auch die Füße betroffen."},"es":{"name":"Sindactilia tipo 4","definition":"Es una sindactilia no sindrómica poco frecuente caracterizada por una fusión cutánea bilateral completa de todos los dedos, frecuentemente asociada con polidactilia (por lo general, seis dedos y seis metacarpianos). Las falanges pueden fusionarse como una masa conglomerada de huesos. En ocasiones, los pies también se ven afectados."},"it":{"name":"Sindattilia, tipo 4","synonyms":["Polisindattilia, tipo Hass"]},"nl":{"name":"Syndactylie type 4","synonyms":["Polysyndactylie, Haas-type"],"definition":"Een zeldzame, niet-syndromale syndactylie, gekarakteriseerd door volledige, bilaterale cutane fusie van alle vingers, vaak geassocieerd met polydactylie (meestal met betrokkenheid van zes vingers/tenen en zes metacarpalen). Falangen kunnen gefuseerd zijn tot een samengeklonterde massa van botten. Soms worden voeten aangetast."},"pt":{"name":"Sindactilia tipo 4","definition":"A sindactilia tipo 4 (SD4) é uma malformação congénita da região distal dos membros, muito rara, caracterizada por sindactilia bilateral (envolvendo todos os dígitos, do 1º ao 5º dedo)."},"pl":{"name":"Syndaktylia typu 4","synonyms":["Polisyndaktylia, typ Haasa"]},"cs":{"name":"Syndaktylie, typ 4","synonyms":["Polysyndaktylie, Haasův typ"]},"uk":{"name":"Синдактилія, тип 4","synonyms":["Полісиндактилія, тип Хааса"],"definition":"A rare non-syndromic syndactyly characterized by complete bilateral cutaneous fusion of all fingers, frequently associated with polydactyly (usually involving six digits and six metacarpals). Phalanges may fuse as a conglomerate mass of bones. Feet are occasionally affected."},"zh":{"name":"并指（趾）畸形4型","synonyms":["并指（趾）畸形，Haas型"],"definition":"并指/趾畸形4型（SD4）是一种非常罕见的先天性肢体远端畸形，其特征是完全双侧并指/趾畸形（累及第1至5指的所有指/趾）。"},"tr":{"name":"Sindaktili tip 4","synonyms":["Polisindaktili, Haas tipi"]}},"xrefs":[{"source":"OMIM","code":"186200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q70.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB79.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"75755208"},{"source":"MONDO","code":"0008515","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566092","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861355","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4434","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":"LMBR1","name":"limb development membrane protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24456159[PMID]","hgnc":"13243","ensembl":"ENSG00000105983","omim":"605522","loci":["7q36.3"]},{"symbol":"SHH","name":"sonic hedgehog signaling molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"10848","ensembl":"ENSG00000164690","omim":"600725","loci":["7q36.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"22448207[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22448207[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"17476456[PMID]","terms":[{"hpo":"HP:0010708","label":"1-5 finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001501","label":"6 metacarpals","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001829","label":"Foot polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005736","label":"Short tibia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Occasional (29-5%)","criteria":null}]}}