{"orpha":1228,"name":"Banki syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1228/","orphanet_url":"https://www.orpha.net/en/disease/detail/1228","names":{"fr":{"name":"Syndrome de Banki","definition":"Syndrome avec synostose rapporté dans une seule famille hongroise dont les membres sur trois générations présentaient la synostose luno-triquetrale, la clinodactylie, la clinométacarpie, la brachymétacarpie et la leptométacarpie (diaphyses fines). Une mutation dominante unique serait à l'origine de la maladie. Aucun cas n'a été décrit dans la littérature depuis 1965."},"de":{"name":"Banki-Syndrom"},"es":{"name":"Síndrome de Banki","definition":"Es un síndrome de sinostosis, descrito en una sola familia húngara en la que los miembros de 3 generaciones mostraron sinostosis lunopiramidal, clinodactilia, clinometacarpia, braquimetacarpia y leptometacarpia (diáfisis delgada). Parecía ser una mutación dominante única. No ha habido más descripciones en la literatura desde 1965."},"it":{"name":"Sindrome di Banki"},"nl":{"name":"Syndroom van Banki","definition":"Een syndroom van synostose, gemeld bij één enkele Hongaarse familie waarvan leden uit drie generaties zich presenteerden met lunotriquetrale synostose, clinodactylie, clinometacarpie, brachymetacarpie, en leptometacarpie (dunne diafyse). Het lijkt om een unieke dominante mutatie te gaan. Sinds 1965 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Banki"},"pl":{"name":"Zespół Banki"},"cs":{"name":"Bankiho syndrom"},"uk":{"name":"Синдром Банкі","definition":"Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965."},"zh":{"name":"Banki综合征"},"tr":{"name":"Banki sendromu"}},"xrefs":[{"source":"OMIM","code":"109300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q68.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007185","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566228","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1862319","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"813","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93459,"name":"Syndrome with synostosis or other joint formation defect","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"DOI: 10.1055/s-0029-1227792[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_DOI: 10.1055/s-0029-1227792[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Very frequent (99-80%)","criteria":null}]}}