OBO ID: DOID:0060233
Term Name: cardiofaciocutaneous syndrome Search Ontology:
Synonyms:
  • cardio-facial-cutaneous syndrome
  • CFC syndrome
Definition: A syndrome 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:
Ontology: Human Disease   (DOID:0060233)
OTHER cardiofaciocutaneous syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (3)