Síndrome de Sotos

Abstract

Sotos syndrome is an autosomal dominant disorder characterized by overgrowth, a typical facial appearance and some degree of mental impairment or learning difficulties. Most patients also show behavioural problems, congenital heart defects, neonatal jaundice, renal anomalies, scoliosis and seizures. Sotos syndrome is a relatively common overgrowth syndrome, with an estimated frequency of 1:15.000 births. Mutations and deletions of the NSD1 gene are responsible of about 75% of affected patients. The majority of the mutations of NSD1 arises de novo, though some of them are familial. Recurrence risk of parents of children with Sotos syndrome is low (< 1%).