Below is a summary for the CHD8 gene observed in research publications. This is not meant to take the place of medical advice.
The online Gene Guide includes more information about CHD8 such as the chance of having another child with this condition, behavior and development concerns linked to CHD8-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
CHD8-related syndrome is also called CHD8-related neurodevelopmental disorder with overgrowth. For this guide, we will be using the name CHD8-related syndrome to encompass the wide range of variants observed in the people identified.
This latest report includes updated information about Simons Searchlight participants with CHD8-related syndrome using insights by families like yours. This report features a special spotlight on behavioral and emotional concerns in children using results from the Child Behavior Checklist (CBCL).
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View all reports below by clicking on “Previous Registry Reports” at the bottom of this page.
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.
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
- Speech delay
- Characteristic facial profile
- Gastrointestinal issues, mostly constipation
- Sleep issues
- Attention problems
How many people have CHD8 -related syndrome?
As of 2024, at least 163 people with CHD8-related syndrome have been identified in a medical clinic. Just over 115 people have been described in detail in medical publications. The first case of CHD8-related syndrome was described in 2012. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Research Article Summaries
Previous Registry Reports