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.
^ abcdeMagoulas, Pilar L.; Fagan, Sarah; Rauen, Katherine A. "Rare Disease Database: Cardiofaciocutaneous Syndrome". National Organization for Rare Disorders. Retrieved 27 July 2021.
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