Sotos Syndrome

Sotos syndrom

Engelsk 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.

Svenska synonymer

Cerebral gigantism

Engelska synonymer

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