Term Name: cardiofaciocutaneous syndrome
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 )

Relationships
is a type of: monogenic disease RASopathy
has subtype: cardiofaciocutaneous syndrome 1 cardiofaciocutaneous syndrome 2 cardiofaciocutaneous syndrome 3 cardiofaciocutaneous syndrome 4