Below is a summary for the EBF3 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 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
Intellectual disability also is common.
Eye issues are common. These can include nearsightedness or crossed eyes, also called strabismus.
SITTING AND WALKING
Motor delay is common.
Research Article Summaries