Below is a summary for the CHD3 gene observed in research publications. This is not meant to take the place of medical advice.
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