Below is a summary for the EBF3 gene observed in research publications. This is not meant to take the place of medical advice.
What is EBF3-related syndrome?
EBF3-related syndrome happens when there are changes to the EBF3 gene. These changes can keep the gene from working as it should.
The EBF3 gene plays a key role in the growth of brain cells.
Because the EBF3 gene is important in the development and function of brain cells, many people who have EBF3-related syndrome have:
- Developmental delay
- Intellectual disability
- Low muscle tone
- Certain facial features, including a triangular face
- Autism, or attention deficit hyperactivity disorder, also called ADHD, or both
Do people who have EBF3-related syndrome look different?
People who have EBF3-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Triangular face
- Single connected eyebrow, also called synophrys
- Small ears
- Roof of the mouth that is highly arched
- Crowded teeth
- Single crease on the palms of hands
Research Article Summaries