 Costello Syndrome
"Costello Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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).
| Descriptor ID |
D056685
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| MeSH Number(s) |
C05.660.207.219 C16.131.077.256 C16.320.185
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| Concept/Terms |
Costello Syndrome- Costello Syndrome
- Syndrome, Costello
- Faciocutaneoskeletal Syndrome
- Faciocutaneoskeletal Syndromes
- Syndrome, Faciocutaneoskeletal
- Syndromes, Faciocutaneoskeletal
- FCS Syndrome
- FCS Syndromes
- Syndrome, FCS
- Syndromes, FCS
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Below are MeSH descriptors whose meaning is more general than "Costello Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Costello Syndrome".
This graph shows the total number of publications written about "Costello Syndrome" by people in this website by year, and whether "Costello Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2015 | 2 | 0 | 2 |
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Below are the most recent publications written about "Costello Syndrome" by people in Profiles.
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Gripp KW, Sol-Church K, Smpokou P, Graham GE, Stevenson DA, Hanson H, Viskochil DH, Baker LC, Russo B, Gardner N, Stabley DL, Kolbe V, Rosenberger G. An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences. Am J Med Genet A. 2015 Sep; 167A(9):2085-97.
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Smpokou P, Zand DJ, Rosenbaum KN, Summar ML. Malignancy in Noonan syndrome and related disorders. Clin Genet. 2015 Dec; 88(6):516-22.
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