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.
- Simons Searchlight Community – EBF3 Facebook group
- EBF3 HADDS Foundation website – hadds.org – EBF3 HADDS Foundation – Facebook page – EBF3 HADDS Foundation – Twitter
- Geisinger Developmental Brain Disorder Gene Database – EBF3
GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care. There is currently no GeneReviews for EBF3.
Research Article Summaries
We currently do not have any article summaries for EBF3, but we add resources to our website as they become available. The information available about EBF3 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow. Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for EBF3 articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Help the Simons Searchlight team learn more about EBF3 genetic changes by taking part in our research. You can learn more about the project and sign up here.
External Research Opportunity: FaceMatch
FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.
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