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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Chromosome Disorders > Sotos Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Chromosome Disorders > Sotos Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Sotos Syndrome

Preferred term

Sotos Syndrome  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Cerebral Gigantism
  • Cerebral Gigantisms
  • Gigantism, Cerebral
  • Gigantisms, Cerebral
  • Sequence, Sotos
  • Sotos Sequence
  • Soto's Syndrome
  • Sotos' Syndrome
  • Soto Syndrome
  • Syndrome, Sotos'

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.

History note

  • 2011

In other languages

URI

http://www.yso.fi/onto/mesh/D058495

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