Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
Also Known As:
FCS Syndrome; FCS Syndromes; Faciocutaneoskeletal Syndromes; Syndrome, Costello; Syndrome, FCS; Syndrome, Faciocutaneoskeletal; Syndromes, FCS; Syndromes, Faciocutaneoskeletal; Faciocutaneoskeletal Syndrome