Costello Syndrome
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).
Year introduced: 2010
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Subheadings:
Tree Number(s): C05.660.207.219, C16.131.077.256, C16.320.188
MeSH Unique ID: D056685
Entry Terms:
- Syndrome, Costello
- Faciocutaneoskeletal Syndrome
- Faciocutaneoskeletal Syndromes
- Syndrome, Faciocutaneoskeletal
- Syndromes, Faciocutaneoskeletal
- FCS Syndrome
- FCS Syndromes
- Syndrome, FCS
- Syndromes, FCS
See Also: