| Cardiofaciocutaneous syndrome | |
|---|---|
 | |
| Cardiofaciocutaneous syndrome is inherited in an autosomal dominant manner[1] | |
| Specialty | Medical genetics  |
Cardiofaciocutaneous (CFC) syndrome is an extremely rare genetic disorder, and is one of the RASopathies. It was first described in 1986.[2][3][4]
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]
- ^ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Cardiofaciocutaneous syndrome". www.orpha.net. Retrieved 27 December 2017.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 550. ISBN 978-0-7216-2921-6.
- ^ Freedberg; et al. (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. p. 513. ISBN 978-0-07-138076-8.
- ^ a b c d e Magoulas, Pilar L.; Fagan, Sarah; Rauen, Katherine A. "Rare Disease Database: Cardiofaciocutaneous Syndrome". National Organization for Rare Disorders. Retrieved 27 July 2021.