Sotos syndrome (cerebral gigantism) was described in 1964 and is a rare genetic congenital syndrome. Diagnosis of the disease is based on genetic testing (mutation in the NSD1 gene). The disease is usually sporadic, although there have been cases of autosomal dominant inheritance. Visible symptoms include high birth weight of the newborn and excessive growth during the first period of life.
At present, the search for the pathophysiological mechanisms causing the symptoms of Sotos syndrome is still ongoing.