Description:
A rare genetic
condition that affects many parts of the body, especially
the heart, face, and skin. People with
cardiofaciocutaneous syndrome usually have growth,
developmental, and learning delays. Other signs and
symptoms include heart defects, an abnormally large head,
unusual facial features, and problems with the skin, eyes,
and the gastrointestinal and nervous systems. People with
cardiofaciocutaneous syndrome may also have thin, dry,
curly hair and sparse or no eyelashes or eyebrows.
Cardiofaciocutaneous syndrome is a type of disease
called a RASopathy that is caused by mutations (changes) in
the BRAF, MAP2K1, MAP2K2, or KRAS gene. These genes make
proteins involved in a cell signaling pathway that controls
many important cell functions. Also called CFC syndrome.
