Learn About Sotos Syndrome

What is the definition of Sotos Syndrome?

Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development of mental and movement abilities. Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin. In addition, the outside corners of the eyes may point downward (down-slanting palpebral fissures). This facial appearance is most notable in early childhood. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have an unusually large head. However, adult height is usually in the normal range.

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What are the causes of Sotos Syndrome?

Mutations in the NSD1 gene are the primary cause of Sotos syndrome, accounting for up to 90 percent of cases. Other genetic causes of this condition have not been identified.

How prevalent is Sotos Syndrome?

Sotos syndrome is reported to occur in 1 in 10,000 to 14,000 newborns. Because many of the features of Sotos syndrome can be attributed to other conditions, many cases of this disorder are likely not properly diagnosed, so the true incidence may be closer to 1 in 5,000.

Is Sotos Syndrome an inherited disorder?

About 95 percent of Sotos syndrome cases occur in people with no history of the disorder in their family. Most of these cases result from new (de novo) mutations involving the NSD1 gene.

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What are the latest Sotos Syndrome Clinical Trials?
Body Representation, Neuropsychological Profile and Socio-emotional Development in Children With Overgrowth Syndromes, With a Specific Focus on Functional Assessment of Patients With Beckwith-Wiedemann Syndrome and Sotos Syndrome

Summary: Sotos Syndrome (SS) and Beckwith-Wiedemann Syndrome (BWS) are known as overgrowth syndromes as they involve an excessive growth of the whole body or of specific body parts. Beyond their primary physical problems, people with SS and BWS could present cognitive delay, socio-emotional and social behavior difficulties. For the SS, previous research reported impairments in specific neuropsychological d...

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Who are the sources who wrote this article ?

Published Date: February 05, 2021Published By: National Institutes of Health

What are the Latest Advances for Sotos Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.