cardiofaciocutaneous syndrome

Term ID

DOID:0060233

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. (3)

References

• GARD:9146
• ICD10CM:Q87.8
• MESH:C535579
• OMIM:PS115150
• ORDO:1340

Ontology

Human Disease   ( DOID:0060233 )