Cardiofaciocutaneous syndrome

Cardiofaciocutaneous (CFC) syndrome is an extremely rare genetic disorder, and is one of the RASopathies. It was first described in 1986.It is characterized by the following:

Distinctive facial appearance
Unusually sparse, brittle, curly scalp hair
A range of skin abnormalities from dermatitis to thick, scaly skin over the entire body (generalized ichthyosis)
Heart malformations in over 75% of patients (congenital or appearing later), especially an obstruction of the normal flow of blood from the lower right ventricle of the heart to the lungs (valvar pulmonary stenosis)
Growth delays
Feeding problems associated with severe gastroesophageal reflux disease (GERD)
Foot abnormalities (extra toe or fusion of two or more toes)
Intellectual disability
Failure to thrive