Sotos syndrome is characterized by characteristic facial features, developmental delay, and increased height and head circumference. Other features may include: neonatal jaundice, scoliosis, seizures, strabismus, conductive hearing loss, congenital heart defects, renal anomalies, and behavioral problems. Microdeletions and mutations of the NSD1 gene have been identified in approximately 80% of patients with a clinical diagnosis of Sotos syndrome. Recently, intragenic deletions of one or more exons of NSD1 have been reported in approximately 5% of patients with a clinical diagnosis of Sotos syndrome.
Contact the Sotos Syndrome Support Association (www.well.com/sssa/) for more information.