Cardiofaciocutaneous syndrome
Cardiofaciocutaneous (CFC) syndrome is an extremely rare genetic disorder, and is one of the RASopathies. It was first described in 1986.
| Cardiofaciocutaneous syndrome | |
|---|---|
| Cardiofaciocutaneous syndrome is inherited in an autosomal dominant manner | |
| Specialty | Medical genetics |
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
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.