Sotos Syndrome

**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.

**Tree numbers:** - C16.131.077.889 - C16.131.260.905 - C16.320.180.905

**Synonyms:** - Cerebral Gigantism - Sotos Sequence - Sotos' Syndrome