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Sotos Syndrome MeSH Descriptor Data 2023


MeSH Heading
Sotos Syndrome
Tree Number(s)
C16.131.077.889
C16.131.260.905
C16.320.180.905
Unique ID
D058495
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D058495
Scope Note
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.
Entry Term(s)
Cerebral Gigantism
Sotos Sequence
Sotos' Syndrome
Previous Indexing
Acromegaly (1977-2010)
Gigantism (1977-2010)
See Also
Fetal Macrosomia
Gigantism
Public MeSH Note
2011
History Note
2011
Date Established
2011/01/01
Date of Entry
2010/06/25
Revision Date
2013/07/08
Sotos Syndrome Preferred
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