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Metadata
ID DOID:0060233
Name cardiofaciocutaneous 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.
http://en.wikipedia.org/wiki/Cardiofaciocutaneous_syndrome, http://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/877/viewAbstract
Xrefs

GARD:9146

ICD10CM:Q87.8

MESH:C535579

MIM:PS115150

ORDO:1340

Subsets

DO_rare_slim

Synonyms

cardio-facial-cutaneous syndrome [EXACT]

CFC syndrome [EXACT]

Parent Relationships

is_a RASopathy

is_a monogenic disease

Subclass Logical Relationships

disease has basis in some gene

has symptom some heart failure

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