{"orpha":1412,"name":"Tarsal-carpal coalition syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1412/","orphanet_url":"https://www.orpha.net/en/disease/detail/1412","names":{"fr":{"name":"Syndrome de coalition tarso-carpienne","definition":"Le yndrome de coalition tarso-carpienne est caractérisé par la fusion des os du carpe, du tarse et des phalanges."},"de":{"name":"Tarsal-Karpal-Fusions-Syndrom","definition":"Dieses Syndrom ist gekennzeichnet durch Karpal- und Tarsalfusionen und proximale Symphalangien."},"es":{"name":"Síndrome con coalición tarso-carpal","definition":"Es un síndrome caracterizado por la fusión de los carpianos, tarsianos y falanges."},"it":{"name":"Sindrome con fusione carpotarsale"},"nl":{"name":"Tarsale-carpale coalitie-syndroom","definition":"Tarsale-carpale coalitie-syndroom wordt gekenmerkt door fusie van carpalen, tarsalen, en falangen."},"pt":{"name":"Síndrome de fusão carpo-társica","synonyms":["Anomalias do tornozelo-baixa estatura","Sinostose do astrágalo e calcâneo-baixa estatura"]},"pl":{"name":"Zespół koalicji stępu i nadgarstka"},"cs":{"name":"Syndrom tarzální a karpální koalice"},"uk":{"name":"Синдром тарзально-пясткового зчленування","definition":"Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges."},"zh":{"name":"跗骨-腕骨联体综合征"},"tr":{"name":"Tarsal-karpal koalisyon sendromu"}},"xrefs":[{"source":"OMIM","code":"186400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"186570","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1118132902"},{"source":"MONDO","code":"0008521","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536943","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861305","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9225","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":[{"symbol":"NOG","name":"noggin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11545688[PMID]_21538686[PMID]","hgnc":"7866","ensembl":"ENSG00000183691","omim":"602991","loci":["17q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003028","label":"Abnormality of the ankles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Very frequent (99-80%)","criteria":null}]}}