"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
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| MeSH Number(s) |
C16.131.077.889 C16.131.260.905 C16.320.180.905
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| 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.
Below are the most recent publications written about "Sotos Syndrome" by people in Profiles.
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Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing. Am J Med Genet A. 2024 05; 194(5):e63516.
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Characterization of sleep habits of children with Sotos syndrome. Am J Med Genet A. 2021 09; 185(9):2815-2820.
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Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations. Am J Med Genet A. 2019 04; 179(4):542-551.
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Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. Am J Med Genet A. 2013 12; 161A(12):2972-80.
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Cleft Lip and Palate in a Patient with 5q35.2-q35.3 Microdeletion: The Importance of Chromosomal Microarray Testing in the Craniofacial Clinic. Cleft Palate Craniofac J. 2013 Sep; 50(5):618-22.
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Generation of the Sotos syndrome deletion in mice. Mamm Genome. 2012 Dec; 23(11-12):749-57.
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NSD1 PHD domains bind methylated H3K4 and H3K9 using interactions disrupted by point mutations in human sotos syndrome. Hum Mutat. 2011 Mar; 32(3):292-8.