Sotos syndrome

Causes

What gene change/mutation/etc. causes Sotos syndrome?

A missing piece or change in the NSD1 gene causes Sotos syndrome.

References
Show More Content Like This

More Causes Content

What happens because of that gene change in Sotos syndrome?

Does anything make Sotos syndrome it worse?

Is this a predisposition or a cause for Sotos syndrome?

What happens because of that gene change in Sotos syndrome?

NSD1 is a gene that provides instructions for the body about how to grow and develop. The instructions tell different parts of the body when to turn growth on and when to turn growth off. If part of these instructions are missing, the body’s growth and development is disrupted. This change in the genetic information leads to overgrowth – causing babies to be large overall at birth, including large head size.

References
Does anything make Sotos syndrome it worse?

Currently nothing is known that makes Sotos syndrome worse. To learn more about the symptoms and management of Sotos syndrome, When a baby is born with Sotos syndrome, they might need treatment for jaundice. This means phototherapy, or being under a light, which helps the color of their skin turn to normal. Sometimes babies have problems feeding and treatment can help babies to feed and gain weight. This sometimes requires a feeding tube. In other cases it may just mean using specific bottles or feeding in certain positions. Heart problems may require surgery to help the heart work properly. Kidney problems may also require surgery to help with bladder and kidney problems. Although there is a low risk for cancer in children with Sotos syndrome, cancer screening is not recommended. Children should be enrolled in early therapies – occupational, physical and speech. Once children are in school they may need to be in a special classroom or have and individualized education plan (IEP). Behavioral problems may require counseling and/or medication to help parents and teachers.

Speak to a genetic counselor or a medical geneticist.

References
Is this a predisposition or a cause for Sotos syndrome?

Missing information in one copy of the NSD1 gene or having a change in the NSD1 gene is known to cause the Sotos syndrome.

References

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me