Costello Syndrome

Costellos syndrom

Engelsk definition

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).

Svenska synonymer

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Engelska synonymer

Syndrome, Costello FCS Syndrome FCS Syndromes Syndrome, FCS Syndromes, FCS Faciocutaneoskeletal Syndrome Faciocutaneoskeletal Syndromes Syndrome, Faciocutaneoskeletal Syndromes, Faciocutaneoskeletal