A multiple congenital anomaly disorder characterized by a distinctive facies, INTELLECTUAL DISABILITY, and cardiovascular abnormalities that include PULMONIC STENOSIS; ATRIAL SEPTAL DEFECT, and HYPERTROPHIC CARDIOMYOPATHY. Ectodermal abnormalities such as sparse hair, skin lesions, and ICHTHYOSIS may also be present. Usually occurs sporadically, but germline mutations in the BRAF gene have been identified in some patients with CFC1. OMIM: 115150
