CFC Syndrome

The Cardio-Facio-Cutaneous Syndrome


Syndrome Facio-cardio-skin is characterized by cardiac abnormalities (abnormal heart valves, ventricular septal and inter atrial cardiomyopathy and cardiac arrhythmias), characteristic facial abnormalities and skin (hyperkeratosis, ichthyosis, eczema, xerosis). The hair is typically sparse, curly, thin, brittle. The eyebrows are absent. The nails are dystrophic or having an overgrowth. Mental retardation of varying intensity was present in all affected individuals. Unlike Costello syndrome and Noonan syndrome are the two main differential diagnoses, these individuals have no particular risk to have malignant tumors.