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 chance of having another child with this condition, or specialists to consider for people with this condition.
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
- Characteristic facial profile
- Gastrointestinal problems
- Sleep problems
- Attention problems
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
BEHAVIOR and DEVELOPMENT
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.
Research Article Summaries