{"orpha":672979,"name":"Craniosynostosis-facial dysmorphism-brachydactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["TCF12-related syndromic craniosynostosis"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-672979/","orphanet_url":"https://www.orpha.net/en/disease/detail/672979","names":{"fr":{"name":"Syndrome de craniosynostose-dysmorphie faciale-brachydactylie"},"de":{"name":"Kraniosynostose-Gesichtsdysmorphien-Brachydaktylie-Syndrom","synonyms":["TCF12-assoziierte syndromale Kraniosynostose"]},"es":{"name":"Síndrome de craneosinostosis-dismorfia facial-braquidactilia","synonyms":["Craneosinostosis sindrómica asociada al gen TCF12"]},"it":{"name":"Sindrome craniosinostosi-dismorfismi facciali-brachidattilia","synonyms":["Craniosinostosi sindromica correlata a TCF12"]},"nl":{"name":"Craniosynostose - faciale dysmorfie - brachydactylie-syndroom","synonyms":["TCF12-gerelateerde syndromale craniosynostose"]},"pt":{"name":"Síndrome de craniossinostose-dismorfia facial-braquidactilia","synonyms":["Craniossinostose sindrómica TCF12-relacionada"]},"pl":{"name":"Craniosynostosis-facial dysmorphism-brachydactyly syndrome","synonyms":["TCF12-related syndromic craniosynostosis"]},"cs":{"name":"Syndrom zahrnující kraniosynostózu, faciální dysmorfii a brachydaktylii","synonyms":["TCF12-related syndromic craniosynostosis"]},"uk":{"name":"Синдром краніосиностозу-лицевого дизморфізму-брахідактилії","synonyms":["Синдромний краніосиностоз, повязаний з TCF12"]}},"xrefs":[{"source":"OMIM","code":"615314","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014128","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"14128","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303810","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"TCF12","name":"transcription factor 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23354436[PMID]","hgnc":"11623","ensembl":"ENSG00000140262","omim":"600480","loci":["15q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}