Cardiofaciocutaneous syndrome
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Cardiofaciocutaneous (CFC) syndrome is an extremely rare genetic disorder, and is one of the RASopathies. It was first described in 1986.[2][3][4]
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Cardiofaciocutaneous syndrome | |
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Cardiofaciocutaneous syndrome is inherited in an autosomal dominant manner[1] | |
Specialty | Medical genetics |
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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[4] (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)[4]
- Foot abnormalities (extra toe or fusion of two or more toes)
- Intellectual disability[4]
- Failure to thrive[4]