The Essentials of
Cardiofaciocutaneous Syndrome (CFC)
What is CFC?
Cardiofaciocutaneous syndrome is an extremely rare genetic disorder and is typically characterized by brittle, curly hair; a large head; abnormal narrowing of the sides of the forehead; intellectual disability; skin abnormalities; short stature; and intrinsic heart defects. (NORD) It is congential, meaning that those affected by this syndrome display symptoms since birth. (OMIM)
Prevalence
Males and females are affected equally, and patients are reported all continents. There is over 200 cases published in literature to date (Orphanet), and the total number of people diagnosed with this disease is estimated to be several hundred. However, there may be many more because mildly affected adults may never be diagnosed. (Wikipedia)