NORD gratefully acknowledges Sarah Fagan, NORD Editorial Intern from the University of Notre Dame, and Katherine A Rauen, MD, PhD, Associate Professor, Division of Medical Genetics, Department of Pediatrics, University of California San Francisco Comprehensive Cancer Center, for assistance In the preparation of this report.
Cardiofaciocutaneous (CFC) syndrome is one of the RASopathies and is a rare genetic disorder is typically characterized by unusually sparse, brittle, curly hair; large head (macrocephaly); a prominent forehead and abnormal narrowing of the sides of the forehead (bi-temporal narrowing); intellectual disability; failure to thrive; heart defects that are present at birth (congenital); short stature and skin abnormalities. CFC syndrome is a dominant de novo genetic disorder caused by a sporadic gene abnormality (mutation) in one of four genes that have been termed BRAF, MAP2K1 (MEK1) and MAP2K2 (MEK2), and KRAS. Some affected individuals do not have a mutation in one of these genes, suggesting that other genes are also associated with CFC syndrome.
CFC syndrome was first described in 1986, based on the observation of eight unrelated patients who had intellectual disability and similar abnormalities in facial appearance, skin, hair, nails and heart.
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