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lüll The cardiofaciocutaneous syndrome Roberts A; Allanson J; Jadico SK; Kavamura MI; Noonan J; Opitz JM; Young T; Neri GJ Med Genet 2006[Nov]; 43 (11): 833-42The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. It is characterised by failure to thrive, relative macrocephaly, a distinctive face with prominent forehead, bitemporal constriction, absence of eyebrows, hypertelorism, downward-slanting palpebral fissures often with epicanthic folds, depressed nasal root and a bulbous tip of the nose. The cutaneous involvement consists of dry, hyperkeratotic, scaly skin, sparse and curly hair, and cavernous haemangiomata. Most patients have a congenital heart defect, most commonly pulmonic stenosis and hypertrophic cardiomyopathy. The developmental delay usually is moderate to severe. The syndrome is caused by gain-of-function mutations in four different genes BRAF, KRAS, mitogen-activated protein/extracellular signal-regulated kinase MEK1 and MEK2, all belonging to the same RAS-extracellular signal-regulated kinase (ERK) pathway that regulates cell differentiation, proliferation and apoptosis. The CFC syndrome is a member of a family of syndromes that includes the Noonan and Costello syndromes, presenting with phenotypic similarities. Noonan syndrome is caused by mutations in the protein tyrosine phosphatase SHP-2 gene (PTPN11), with a few people having a mutation in KRAS. Costello syndrome is caused by mutations in HRAS. The protein products of these genes also belong to the RAS-ERK pathway. Thus, the clinical overlap of these three conditions, which often poses a problem of differential diagnosis, is explained by their pathogenetic relatedness.|*Facies[MESH]|Abnormalities, Multiple/*diagnosis/epidemiology/genetics[MESH]|Diagnosis, Differential[MESH]|Digestive System Abnormalities/diagnosis[MESH]|Eye Abnormalities/diagnosis[MESH]|Female[MESH]|Genes[MESH]|Heart Defects, Congenital/*diagnosis[MESH]|Hematologic Diseases/diagnosis[MESH]|Humans[MESH]|Male[MESH]|Mutation[MESH]|Nervous System Malformations/diagnosis[MESH]|Noonan Syndrome/diagnosis/genetics[MESH]|Skin Abnormalities/*diagnosis/pathology[MESH]|Syndrome[MESH] |