NSD1
The information for this summary of NSD1-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full NSD1 Gene Guide
The online Gene Guide includes more information about NSD1 such as the chance of having another child with this condition, behavior and development concerns linked to NSD1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
NSD1-related syndrome is also called Sotos syndrome. For this webpage, we will be using the name NSD1-related syndrome to encompass the wide range of variants observed in the people identified.
What is NSD1-related syndrome?
NSD1-related syndrome happens when there are changes in the NSD1 gene. These changes can keep the gene from working as it should.
Key Role
The NSD1 gene plays a key role in the basic functioning of the cell.
Symptoms
Because the NSD1 gene is important for brain activity, many people who have NSD1-related syndrome have:
- Developmental delay
- Intellectual disability
- Overgrowth in height and or head size
- Behavioral issues, including autism
- Advanced bone age
- Heart and kidney structure issues
- Seizures
- Brain changes seen on magnetic resonance imaging (MRI)
- Sideways curve of the spine, also called scoliosis
- Hypermobile joints
How many people have NSD1-related syndrome?
As of 2026, over 900 people with NSD1-related syndrome have been described in medical research.
Support Resources
- Simons Searchlight Community – NSD1 Facebook group
- Sotos Syndrome Support Association website – sotossyndrome.org – Sotos Syndrome Support Association – Facebook page
- Geisinger Developmental Brain Disorder Gene Database – NSD1
GeneReviews
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.
- Tatton-Brown K. et al. GeneReviews, (2019). Sotos syndrome, www.ncbi.nlm.nih.gov/books/NBK1479/.
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!