Costello Syndrome
MESHD056685
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).
Synonyms
- Syndrome, Costello
- Faciocutaneoskeletal Syndrome
- Faciocutaneoskeletal Syndromes
- Syndrome, Faciocutaneoskeletal
- Syndromes, Faciocutaneoskeletal
- FCS Syndrome
- FCS Syndromes
- Syndrome, FCS
- Syndromes, FCS
Source last updated 2026-05-24T15:24:38.588Z