"Sotos 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.
Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome.
| Descriptor ID |
D058495
|
| MeSH Number(s) |
C16.131.077.889 C16.131.260.905 C16.320.180.905
|
| Concept/Terms |
Sotos Syndrome- Sotos Syndrome
- Syndrome, Sotos
- Sotos Sequence
- Sequence, Sotos
- Sotos' Syndrome
- Soto Syndrome
- Soto's Syndrome
- Syndrome, Sotos'
- Cerebral Gigantism
- Cerebral Gigantisms
- Gigantism, Cerebral
- Gigantisms, Cerebral
|
Below are MeSH descriptors whose meaning is more general than "Sotos Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Sotos Syndrome".
This graph shows the total number of publications written about "Sotos Syndrome" by people in this website by year, and whether "Sotos Syndrome" was a major or minor topic of these publications.
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Below are the most recent publications written about "Sotos Syndrome" by people in Profiles.
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Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: microcephaly, developmental delay and delayed bone age. Am J Med Genet A. 2011 Jun; 155A(6):1374-8.