Below is a summary for the CHD3 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 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 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.
Research Article Summaries