cardiofaciocutaneous syndrome (DOID:0060233)
Alliance: disease page
Synonyms: cardio-facial-cutaneous syndrome; CFC syndrome
Alt IDs: ICD10CM:Q87.8, MESH:C535579, OMIM:PS115150, ORDO:1340
Definition: A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes.