Description

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability. Most people with Sotos syndrome have a mutation on gene NSD1 (75%), located on the long arm of chromosome 5 (5q35). Among other things, gene NSD1 is believed to regulate the activity of certain other genes involved in growth and development. The syndrome is usually caused by a new mutation. This means that the genetic mutation occurs in an individual for the first time and is not inherited from either parent.

External Information

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