Wrestling with the RASopathies: Cardiofaciocutaneous Syndrome

The RASopathies are a group of genetic syndromes caused by germline mutations in genes that encode components of the Ras/MAPK pathway, which carries signals from receptors on the cell surface to DNA in the nucleus. Cardiofaciocutaneous (CFC) syndrome is a rare, sporadic genodermatosis characterized by distinctive craniofacial features (macrocephaly, high forehead, bitemporal constriction, downslanting palpebral fissures, depressed nasal bridge); congenital heart defects (pulmonary stenosis, hypertrophic cardiomyopathy); developmental delay; failure to thrive; and dermatological findings (keratosis pilaris; ulerythema ophryogenes; and brittle, sparse, curly hair). Features of CFC syndrome overlap with other RASopathies, particularly Noonan s…