Cardiofaciocutaneous Syndrome

Cardiofaciocutaneous Syndrome (CFC) is an extremely rare and serious genetic disorder.

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 (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)
  • Delayed growth
  • Foot abnormalities (extra toe or fusion of two or more toes)

Read more about Cardiofaciocutaneous Syndrome:  Malformations of Face and Head, Genetic Causes of CFC

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