{"orpha":1340,"name":"Cardiofaciocutaneous syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CFC syndrome"],"definition":"A rare, multiple congenital anomalies syndrome characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), neurological manifestations (hypotonia, seizures), failure to thrive and intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1340/","orphanet_url":"https://www.orpha.net/en/disease/detail/1340","names":{"fr":{"name":"Syndrome cardio-facio-cutané","synonyms":["Syndrome CFC"],"definition":"Syndrome rare d'anomalies congénitales multiples caractérisé par une dysmorphie craniofaciale, une cardiopathie congénitale, des dermatoses (le plus souvent une peau hyperkératosique et des cheveux clairsemés et frisés), des manifestations neurologiques (hypotonie, crises d'épilepsie), un retard de croissance et une déficience intellectuelle."},"de":{"name":"Kardio-fazio-kutanes Syndrom","synonyms":["CFC-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien, das durch kraniofaziale Dysmorphien, angeborene Herzfehler, dermatologische Anomalien (meist hyperkeratotische Haut und spärliches, lockiges Haar), neurologische Manifestationen (Hypotonie, Krampfanfälle), Gedeihstörung und Intelligenzminderung gekennzeichnet ist."},"es":{"name":"Síndrome cardio-facio-cutáneo","synonyms":["Síndrome CFC"],"definition":"Es un síndrome de múltiples anomalías congénitas, poco frecuente caracterizado por dismorfia craneofacial, cardiopatía congénita, anomalías dermatológicas (más frecuentemente hiperqueratosis y cabello escaso y rizado), manifestaciones neurológicas (hipotonía, crisis epilépticas), fallo de medro y discapacidad intelectual."},"it":{"name":"Sindrome cardio-facio-cutanea","synonyms":["Sindrome CFC"],"definition":"Si tratta di una malattia rara da anomalie congenite multiple, caratterizzata da dismorfismi craniofacciali, cardiopatie, anomalie della cute (per lo più cute ipercheratosica e capelli radi e ricci), sintomi neurologici (ipotonia, crisi epilettiche), ritardo della crescita e disabilità intellettiva."},"nl":{"name":"Cardiofaciocutaan syndroom","synonyms":["CFC-syndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekarakteriseerd door craniofaciale dysmorfie, congenitale hartziekte, dermatologische afwijkingen (voornamelijk hyperkeratotische huid en schaars, gekruld haar), neurologische manifestaties (hypotonie, insulten), groeifalen, en intellectuele achterstand."},"pt":{"name":"Síndrome cardio-facio-cutâneo","synonyms":["Síndrome CFC"]},"pl":{"name":"Zespół sercowo-twarzowo-skórny","synonyms":["Zespół CFC"]},"cs":{"name":"Kardiofaciokutánní syndrom","synonyms":["CFC syndrom"]},"uk":{"name":"Кардіо-фаціо-кутанний синдром","synonyms":["Синдром CFC"],"definition":"A rare, multiple congenital anomalies syndrome characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), neurological manifestations (hypotonia, seizures), failure to thrive and intellectual disability."},"zh":{"name":"心面皮肤综合征","synonyms":["CFC综合征"]},"tr":{"name":"Kardiyofasiyokütanöz sendrom","synonyms":["CFC sendromu"]}},"xrefs":[{"source":"OMIM","code":"115150","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"615278","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615279","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615280","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"498160288"},{"source":"MONDO","code":"0015280","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535579","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1275081","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9146","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10082805","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":568047,"name":"Disorder with multisystemic involvement and primary lymphedema","classifications":[147,156,187,198]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98733,"name":"Noonan syndrome and Noonan-related syndrome","classifications":[147,148,156]},{"orpha":217595,"name":"Syndrome associated with hypertrophic cardiomyopathy","classifications":[146,156,233]}],"children":[],"genes":[{"symbol":"BRAF","name":"B-Raf proto-oncogene, serine/threonine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20301365[PMID]_16825433[PMID]","hgnc":"1097","ensembl":"ENSG00000157764","omim":"164757","loci":["7q34"]},{"symbol":"KRAS","name":"KRAS proto-oncogene, GTPase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20301365[PMID]_16825433[PMID]","hgnc":"6407","ensembl":"ENSG00000133703","omim":"190070","loci":["12p12.1"]},{"symbol":"MAP2K1","name":"mitogen-activated protein kinase kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20301365[PMID]_16825433[PMID]","hgnc":"6840","ensembl":"ENSG00000169032","omim":"176872","loci":["15q22.31"]},{"symbol":"MAP2K2","name":"mitogen-activated protein kinase kinase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20301365[PMID]_16825433[PMID]","hgnc":"6842","ensembl":"ENSG00000126934","omim":"601263","loci":["19p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.12,"area":"Japan","status":"Validated","source":"22495831[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"22495831[PMID]_[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:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000499","label":"Abnormal eyelash 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