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
References
External links
- CFC Syndrome at Genetics Home Reference
- GeneReview/UW/NIH entry on CFC