ABSTRACT
Cardio-facio-cutaneous syndrome was described in 1986 by Reynolds.1 CFC syndrome is a multiple congenital anomaly disorder that belongs to the family of RASopathy syndromes, which also includes Noonan and Costello syndromes. Mutations of the BRAF, MEK1 and MEK2 genes cause the CFC syndrome.2,3 Some clinical features of Noonan syndrome and Costello syndrome may coincide with CFCS syndrome, but CFCS has distinctive characteristics (Table 1). Some of the most common features in CFCS include dysmorphic craniofacial features, congenital heart disease, dermatological abnormalities, failure to thrive, gastrointestinal dysfunction and a wide spectrum (both in severity and type) of neurological abnormalities (neurocognitive impairment, executive dysfunction, hypotonia, coordination impairment and/or seizures). In consequence, children and adults with CFCS require multidisciplinary care from specialists and the need for comprehensive management. (AU)
