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cardiofaciocutaneous syndrome (CFC syndrome)
Pathology:
- heart defects include
a) pulmonic stenosis
b) atrial septal defects
c) hypertrophic cardiomyopathy
Genetics:
- autosomal dominant
- associated with defects in MAP2K1 & MAP2K2 genes
- associated with defects in KRAS
- associated with defects in BRAF
Clinical manifestations:
- distinctive facial appearance, heart defects & mental retardation
- some affected individuals present with ectodermal abnormalities such as
a) sparse, friable hair
b) hyperkeratotic skin lesions
c) generalized ichthyosis-like condition
- typical facial features are similar to Noonan syndrome, including
a) high forehead with bitemporal constriction
b) hypoplastic supraorbital ridges
c) downslanting palpebral fissures
d) depressed nasal bridge
e) posteriorly angulated ears with prominent helices
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 115150
References
OMIM :accession 115150