Sotos Syndrome

Sotos Syndrome

What is Sotos Syndrome

Sotos Syndrome is a rare overgrowth condition that causes quick growth in early childhood resulting in children being considerably taller than their peers. It affects between1 in 10,000 and 1 in 14,000 new-born babies.

Sotos Syndrome is an autosomal dominant condition which means that if either one of the parents has Sotos, there is a fifty percent chance that each of their children will inherit the condition. The chance of a couple having a second child with Sotos syndrome is the same as for any other couple (approximately 1 in 10,000 to 1 in 14,000) provided they do not have the syndrome themselves. 

Why does it occur?

In around 90% of children with Sotos Syndrome the cause is a mutation in the NSD1 gene. This gene provides instructions for making a protein that is involved in normal growth and development. The protein affected cannot then function properly and normal growth is disrupted. It is not currently clear how the disruption causes the overgrowth and other complications and research is ongoing.

How is Sotos Syndrome diagnosed?

A clinical diagnosis of Sotos Syndrome may be gained by the presentation of the typical symptoms:

  • Characteristic facial appearance
  • Learning disability
  • Childhood overgrowth
  • Increased head circumference

This suspected diagnosis can be confirmed through a genetic test to check changes in the NSD1 gene.

Signs & Symptoms

Aside from the tall stature children with Sotos Syndrome are likely to encounter a number of other difficulties and symptoms. There are symptoms involved with the increased and rapid growth such as scoliosis (curvature of the spine), heart and kidney defects, hearing loss and problems with vision. They may also be affected by persistent infections of the urinary and respiratory tracts.

People with Sotos Syndrome can be prone to seizures and can have moderate to severe learning difficulties. They can also have behavioural issues including ADHD, phobias, obsessions and difficulties with speech and language. 

Treatment & Support

Management of Sotos Syndrome is focussed on treatment of the individual symptoms as they occur overseen by an appropriate specialist. Due to the variety of issues this will result in a multi-disciplinary approach with many specialists involved in the care and support.

Please consider calling our helpline for support and advice, we can also help put you in touch with other families with the same condition. We also have members of our Facebook Group who may be able to help you.

Facebook Support Group

The CGF run a number of closed Facebook groups, providing peer support for people directly affected by growth conditions, their parents, family and friends. These groups are a fantastic support tool. Click the image below to find the Sotos Syndrome Facebook group.

Personal Stories

Read some of the personal experiences and stories from people affected by Sotos Syndrome.

Further Reading/Downloads

Sotos Syndrome Sensory Processing

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