FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term cardiofaciocutaneous syndrome ID (Ontology) DOID:0060233 (Human Disease)
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.
Also Known As "cardio-facial-cutaneous syndrome" ; "CFC syndrome"
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Human Disease Models (FBhh)  DOID       1
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 Human Disease Models
 cardiofaciocutaneous syndrome       1
Spanning Tree (Parents/Children)
Only view relationship: 
syndrome
 |__RASopathy__________
genetic disease        |
 |__monogenic disease__|
                       cardiofaciocutaneous syndrome  6 rec.
                        |__cardiofaciocutaneous syndrome 1 1 rec.
                        |__cardiofaciocutaneous syndrome 2 1 rec.
                        |__cardiofaciocutaneous syndrome 3 2 rec.
                        |__cardiofaciocutaneous syndrome 4 2 rec.
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Is a monogenic disease
RASopathy
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Synonyms
  • "cardio-facial-cutaneous syndrome" EXACT
    "CFC syndrome" EXACT
Secondary IDs
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GARD:9146
ICD10CM:Q87.8
MESH:C535579
MIM:PS115150
ORDO:1340