Preferred Label : Cardiofaciocutaneous syndrome 1;
Symbol : CFC1;
CISMeF acronym : CFCS; CFC1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Cfc syndrome; CFCS;
Description : Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized
by a distinctive facial appearance, heart defects, and mental retardation (summary
by Niihori et al., 2006). The heart defects include pulmonic stenosis, atrial septal
defect, and hypertrophic cardiomyopathy. Some patients have ectodermal abnormalities
such as sparse and friable hair, hyperkeratotic skin lesions, and a generalized ichthyosis-like
condition. Typical facial characteristics include high forehead with bitemporal constriction,
hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal
bridge, and posteriorly angulated ears with prominent helices. Most cases occur sporadically,
but autosomal dominant transmission has been rarely reported (Linden and Price, 2011).
Roberts et al. (2006) provided a detailed review of CFC syndrome, including a discussion
of the phenotypic overlap of CFC syndrome with Noonan syndrome (NS1; 163950) and Costello
syndrome (218040). - Genetic Heterogeneity of Cardiofaciocutaneous Syndrome Other
forms of cardiofaciocutaneous syndrome include CFC2 (615278), caused by mutation in
the KRAS gene (190070); CFC3 (615279), caused by mutation in the MAP2K1 gene (176872);
and CFC4 (615280), caused by mutation in the MAP2K2 gene (601263). The protein products
of these causative genes, including BRAF, interact in a common RAS/ERK (see 601795)
pathway that regulates cell differentiation, proliferation, and apoptosis (summary
by Roberts et al., 2006).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the B-Raf protooncogene, serine/threonine kinase, gene (BRAF,
164757.0012);
Laboratory abnormalities : Elevated homovanillic acid (HVA); Elevated vanillylmandelic acid (VMA);
Prefixed ID : #115150;
Origin ID : 115150;
UMLS CUI : C1275081;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)