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 — Faciocutaneoskeletal Syndrome — Faciocutaneoskeletal Syndromes — Syndrome, Faciocutaneoskeletal — Syndromes, Faciocutaneoskeletal — FCS Syndrome — FCS Syndromes — Syndrome, FCS — Syndromes, FCS