Sotos syndrome


What is Sotos syndrome?

Sotos syndrome is a rare genetic disorder caused by either a deletion of the NSD1 gene or a change in the NSD1 gene. This condition is characterized by fast growth in childhood. Overgrowth begins early; babies are usually born larger than average with bigger head sizes. Children continue to have faster growth throughout childhood. Facial features can include down-slanting eyes, long and narrow face and red (flushed) cheeks. Individuals with Sotos syndrome also have developmental delay especially in speech and movement because of muscle weakness. Individuals grow up to have learning disabilities, which can range from mild to severe. Behavior problems such as ADHD and autism are also increased.

Speak to a genetic counselor or a medical geneticist to learn more about Sotos syndrome.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • • DATE UPDATED: 2016-06-13


Sotos Syndrome. (2015). U.S. National Library of Medicine.

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