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cardiofaciocutaneous syndrome 1

Disease Summary
Associated Targets (4)


Mondo Description Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene.
Uniprot Description A multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices.
Mondo Term and Equivalent IDs
MONDO:0007265:  cardiofaciocutaneous syndrome 1