Below is a summary for the NSD1 gene observed in research publications. This is not meant to take the place of medical advice.

What is NSD1-related syndrome?

NSD1-related syndrome happens when there are changes to the NSD1 gene. These changes can keep the gene from working as it should. NSD1-related syndrome is also called Sotos syndrome.

Key Role

The NSD1 gene plays a key role in the basic function of the cell.


Because the NSD1 gene is important in the development and function of brain cells, many people who have NSD1-related syndrome have:

  • Developmental delay and intellectual disability
  • Large head size
  • Tall height
  • Noticeable forehead and long skull

Do people who have NSD1-related syndrome look different?

People who have NSD1-related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Noticeable forehead
  • Long narrow face and chin
  • Thinning hair in the front
  • Red cheeks, also called malar flushing


Most people with NSD-1 related syndrome have some level of intellectual disability, which can range from mild to severe.


Behavior issues are common and can include autism, aggression and phobias, or fears.


Support Resources



GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care. View the GeneReviews for Sotos Syndrome.


Research Article Summaries

We currently do not have any article summaries for NSD1, but we add resources to our website as they become available. The information available about NSD1 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for NSD1 articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about NSD1 genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.


Family Stories

We do not currently have any stories from NSD1 families. Click here to share your family’s story!