Below is a summary for the CHD3 gene observed in research publications. This is not meant to take the place of medical advice.

What is CHD3-related syndrome?

CHD3-related syndrome happens when there are changes to 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.


Many people who have CHD3-related syndrome have:

  • Intellectual disability
  • Developmental delays
  • Impaired language and speech skills
  • Large heads and facial features that are similar to others with the syndrome

Do people who have CHD3-related syndrome look different?

People who have CHD3-related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • More than half of those who have the syndrome have a large head.
  • They may also have widely-spaced eyes, a broad forehead, sparse eyebrows, low-set and ears, and a pointed chin.

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.

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.


Family Stories

We do not currently have any stories from CHD3 families.

Click here to share your family’s story!