cardiofaciocutaneous syndrome 1

A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34.

Signs and symptoms

• Short nose
• Blue irides
• Few cafe-au-lait spots
• Pectus excavatum
• Clinodactyly of the 5th finger
• Proptosis
• Long philtrum
• Cerebral cortical atrophy
• Thick lower lip vermilion
• Broad neck

Also known as: CFC1