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
Famous quotes containing the word syndrome:
“[T]he syndrome known as life is too diffuse to admit of palliation. For every symptom that is eased, another is made worse. The horse leech’s daughter is a closed system. Her quantum of wantum cannot vary.”
—Samuel Beckett (1906–1989)