Cardiofaciocutaneous syndrome

Cardiofaciocutaneous syndrome is an extremely rare genetic disorder and one of the RASopathies, a group of conditions caused by mutations affecting the MAP kinase signaling pathway. It results from mutations in the KRAS, BRAF, MEK1 and MEK2 genes and follows an autosomal dominant inheritance pattern. The syndrome presents with a distinctive facial appearance, unusually sparse, brittle and curly scalp hair, and skin abnormalities ranging from dermatitis to generalized ichthyosis. Heart malformations occur in over 75 percent of patients, alongside growth delays, feeding problems, intellectual disability, and foot abnormalities such as extra or fused toes, with affected infants often showing failure to thrive. Facial characteristics include an unusually large head, a prominent forehead, an upturned nose, and abnormal eye features.