Term Name: | cardiofaciocutaneous syndrome |
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Synonyms: | cardio-facial-cutaneous syndrome, CFC syndrome |
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. |
Ontology: | Human Disease [DOID:0060233] ( DOID:0060233 ) |