Syndrome

Costello Syndrome

AMW:DIS:050310

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).

Pathology clinical

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Costello Syndrome has parent Abnormalities, Multiple

Costello Syndrome has parent Craniofacial Abnormalities

Costello Syndrome has parent Genetic Diseases, Inborn

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