ACTB
The information for this summary of ACTB-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full ACTB Gene Guide
The online Gene Guide includes more information about ACTB such as the chance of having another child with this condition, behavior and development concerns linked to ACTB-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
ACTB-related syndrome is also called Baraitser-Winter cerebrofrontofacial syndrome, developmental malformations-deafness-dystonia syndrome, or ACTB-related disorder. For this webpage, we will be using the name ACTB-related syndrome to encompass the wide range of variants observed in the people identified.
What is ACTB-related syndrome?
ACTB-related syndrome happens when there are changes in the ACTB gene. These changes can keep the gene from working as it should.
Key Role
The ACTB gene is important for many cell functions, including the movement and division of cells as the body develops.
Symptoms
Because the ACTB gene is important for brain activity, many people who have ACTB-related syndrome have:
- Developmental delay
- Intellectual disability
- Problems in the formation of the eye, also called coloboma
- Hearing loss
- Muscle weakness and decrease in size of certain muscles
- Brain changes seen on magnetic resonance imaging (MRI)
- Seizures
- Smaller than average head size
- Shorter than average height
- Genitourinary changes
- Gastrointestinal issues
How many people have ACTB-related syndrome?
As of 2025, about 144 people in the world with ACTB-related syndrome have been identified in a medical clinic.
Support Resources
- Simons Searchlight Community – ACTB Facebook group
GeneReviews
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.
Check out the GeneReviews for ACTB.
Research Article Summaries
We currently do not have any article summaries for ACTB, but we add resources to our website as they become available.
The information available about ACTB 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 ACTB articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about ACTB genetic changes by taking part in our research. You can learn more about the project and sign up here.
Family Stories
We do not currently have any stories from ACTB families.
Click here to share your family’s story!