sotos syndrome

Summary

Summary: 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.

Top Publications

  1. Mayo S, Garin I, Monfort S, Roselló M, Orellana C, Oltra S, et al. Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features. J Hum Genet. 2012;57:153-6 pubmed publisher