CHD3
Below is a summary for the CHD3 gene observed in research publications. This is not meant to take the place of medical advice.
Click here for our full CHD3 Gene Guide
The online Gene Guide includes more information about CHD3 such as the chance of having another child with this condition, behavior and development concerns linked to CHD3-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
CHD3-related syndrome is also called Snijders Blok-Campeau syndrome. For this webpage, we will be using the name CHD3-related syndrome to encompass the wide range of variants observed in the people identified.
What is CHD3-related syndrome?
CHD3-related syndrome happens when there are changes in the CHD3 gene. These changes can keep the gene from working as it should.
Key Role
CHD3 plays a key role in the growth of the brain.
Symptoms
Because the CHD3 gene is important for brain activity, many people who have CHD3-related syndrome have:
- Developmental delay
- Intellectual disability
- Impaired language and speech skills
- Large head size
- Low muscle tone
- Unsteady walking
- Seizures
- Features of autism
- A friendly personality
How many people have CHD3-related syndrome?
As of 2026, over 114 people with CHD3-related syndrome have been identified in a medical clinic. The first person was found in 2018. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Support Resources
- Simons Searchlight Community – CHD3 Facebook group
- CHD3 Families (Snijders Blok Campeau Syndrome) – Facebook group
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.
There is currently no GeneReviews for CHD3.
Research Article Summaries
We currently do not have any article summaries for CHD3, but we add resources to our website as they become available.
The information available about CHD3 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 CHD3 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 CHD3 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 CHD3 families.
Click here to share your family’s story!