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Costello Syndrome MeSH Descriptor Data 2024


MeSH Heading
Costello Syndrome
Tree Number(s)
C05.660.207.219
C16.131.077.256
C16.320.188
Unique ID
D056685
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D056685
Scope Note
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).
Entry Term(s)
FCS Syndrome
Faciocutaneoskeletal Syndrome
See Also
Genes, ras
Noonan Syndrome
Proto-Oncogene Proteins p21(ras)
Public MeSH Note
2010
History Note
2010
Date Established
2010/01/01
Date of Entry
2009/07/06
Revision Date
2019/07/01
Costello Syndrome Preferred
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