: MeSH: Sotos Syndrome

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

Sotos Syndrome

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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.

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