"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.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2011 | 2 | 0 | 2 |
| 2019 | 1 | 0 | 1 |
| 2020 | 1 | 0 | 1 |
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Below are the most recent publications written about "Sotos Syndrome" by people in Profiles.
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Mubungu G, Lukute G, Makay P, Songo C, Lukusa P, Devriendt K, Lumaka A. Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa). Am J Med Genet A. 2020 07; 182(7):1572-1575.
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Grand K, Gonzalez-Gandolfi C, Ackermann AM, Aljeaid D, Bedoukian E, Bird LM, De Leon DD, Diaz J, Hopkin RJ, Kadakia SP, Keena B, Klein KO, Krantz I, Leon E, Lord K, McDougall C, Medne L, Skraban CM, Stanley CA, Tarpinian J, Zackai E, Deardorff MA, Kalish JM. 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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Fickie MR, Lapunzina P, Gentile JK, Tolkoff-Rubin N, Kroshinsky D, Galan E, Gean E, Martorell L, Romanelli V, Toral JF, Lin AE. Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person. Am J Med Genet A. 2011 Sep; 155A(9):2105-11.
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Lehman AM, du Souich C, Chai D, Eydoux P, Huang JL, Fok AK, Avila L, Swingland J, Delaney AD, McGillivray B, Goldowitz D, Argiropoulos B, Kobor MS, Boerkoel CF. 19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression. Clin Genet. 2012 Jan; 81(1):56-63.