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.
Also Known As:
Cerebral Gigantism; Sotos Sequence; Sotos' Syndrome; Cerebral Gigantisms; Gigantism, Cerebral; Gigantisms, Cerebral; Sequence, Sotos; Soto Syndrome; Soto's Syndrome; Syndrome, Sotos; Syndrome, Sotos'