D056685Level 5
Costello Syndrome
**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).
**Tree numbers:** - C05.660.207.219 - C16.131.077.256 - C16.320.188
**Synonyms:** - Faciocutaneoskeletal Syndrome - FCS Syndrome
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