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Sotos Syndrome

More information in Books or onNLM PubMed
Definition: 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.     
See Also Fetal Macrosomia; Gigantism
Other names Gigantisms, Cerebral; Gigantism, Cerebral; Cerebral Gigantisms; Syndrome, Sotos; Cerebral Gigantism
 
SubstanceCAS Registry & nameCategoriesSource
Nevo syndrome  0   *Sotos Syndrome. J Med Genet. 1974;11(2):158-65
NSD1 protein, human  0   *Nuclear Proteins *Intracellular Signaling Peptides and Proteins Zinc Fingers Sotos Syndrome. EMBO J 1998 Jun 15;17(12):3398-412

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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