Below is a summary for the CHD3 gene observed in research publications. This is not meant to take the place of medical advice.
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.
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.
CHD3-related syndrome is also called Snijders Blok-Campeau Syndrome.
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
How many people have CHD3-related syndrome?
As of 2019, about 35 people in the world with changes in the CHD3 gene had been described in the medical literature. The first case of CHD3– related syndrome was described in 2018. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Research Article Summaries