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