{"orpha":3248,"name":"Isolated distal symphalangism","type":"Morphological anomaly","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3248/","orphanet_url":"https://www.orpha.net/en/disease/detail/3248","names":{"fr":{"name":"Symphalangie distale isolée","definition":"Maladie osseuse très rare caractérisée par une ankylose des articulations interphalangiennes distales des mains et/ou des pieds."},"de":{"name":"Symphalangismus, isolierter distaler"},"es":{"name":"Sinfalangismo distal aislado","definition":"Es un trastorno óseo muy poco frecuente caracterizado por anquilosis de las articulaciones interfalángicas distales de las manos y/o los pies."},"it":{"name":"Sinfalangismo distale isolato","definition":"Il sinfalangismo distale è una malattia scheletrica molto rara, caratterizzata da anchilosi delle articolazioni interfalangee distali delle mani e/o dei piedi."},"nl":{"name":"Geïsoleerd distaal symfalangisme","definition":"Distaal symfalangisme is een zeer zeldzame botstoornis die gekarakteriseerd wordt door ankylose van de distale interfalangeale gewrichten van de handen en/of voeten."},"pt":{"name":"Sinfalangismo distal isolado"},"pl":{"name":"Izolowany dystalny symfalangizm"},"cs":{"name":"Distální symfalangismus"},"uk":{"name":"Ізольований дистальний симфалангізм","definition":"Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet."},"zh":{"name":"远端指关节粘连"},"tr":{"name":"Distal simfalanjizm"}},"xrefs":[{"source":"OMIM","code":"185700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q70.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1737945585"},{"source":"MONDO","code":"0008509","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925003","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5074","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294949,"name":"Non-syndromic joint formation defects","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"3436086[PMID]_2061594[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3436086[PMID]_2061594[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-18","source":null,"terms":[{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009773","label":"Symphalangism affecting the phalanges of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Occasional (29-5%)","criteria":null}]}}