Below is a summary for the CHD8 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as the chance of having another child with this condition, or specialists to consider for people with this condition.

Download the latest quarterly report here. The goal of this report is to share up-to-date data contributed by families. Sharing your information is very important to the longevity of our study. Your unique experience could hold the clues that scientists need to find answers for you and others with rare genetic disorders. If you want to be included in future reports, join Simons Searchlight today!

To view past registry reports go to the bottom of this page and click on the dropdown menu tab labeled “Previous Registry Reports.”

Download the Voice of the Community report here. The Simons Searchlight team is happy to share the results from a special survey called The Simons Searchlight Voice of the Community. The results include specific data and information about your community. We extend a big thank you to everyone who contributed their unique information and insight. We couldn’t have done this without you.

What is CHD8-related syndrome?

CHD8-related syndrome happens when there are changes to the CHD8 gene. These changes can keep the gene from working as it should.

Key Role

The CHD8 gene plays a key role in brain growth and function.


Because the CHD8 gene is important in the development and function of brain cells, many people who have CHD8-related syndrome have:

  • Developmental delay, intellectual disability, or both
  • Autism or features of autism
  • Characteristic facial profile
  • Gastrointestinal problems
  • Sleep problems
  • Seizures
  • Attention problems
  • Obesity

Do people who have CHD8-related syndrome look different?

People who have CHD8-related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Large forehead
  • Wide-set eyes
  • Broad nose
  • Pointed chin

13 out of 15 have autism, 10 out of 15 have sleep problems, and 9 out of 15 have intellectual disability.


12 out of 14 are tall for their age.


12 out of 15 have gastrointestinal problems.


Support Resources


Research Article Summaries

Below, we have summarized research articles about changes in the CHD8 gene. We hope you find this information helpful.

The information available about CHD8 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this 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 CHD8 articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.


CHD8 intragenic deletion associated with autism spectrum disorder

Original research article by E.S. Stolerman et al. (2016).

Read the abstract here and the Simons Searchlight summary here.


Disruptive CHD8 mutations define a subtype of autism early in development

Original research article by R. Bernier et al. (2014).

Read the article here and the Simons Searchlight summary here.


Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Original research article by B. O’Roak et al. (2012).

Read the article here and the Simons Searchlight summary here.


Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

Original research article by B. O’Roak et al. (2012).

Read the abstract here and the Simons Searchlight summary here.



Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about CHD8 genetic changes by taking part in our research. You can learn more about the project and sign up here.


The University of Washington’s Autism Center seeks to better understand the medical, learning, and behavioral features of people with changes in CHD8.

Click here to learn more about this opportunity.

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

Stories from CHD8 families:

Click here to share your family’s story!