ACTB

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

What is Baraitser-Winter cerebrofrontofacial syndrome or BWCFF syndrome?

Baraitser-Winter cerebrofrontofacial syndrome or BWCFF syndrome happens when there are changes to the ACTB gene or the ACTG1 gene. These changes can keep these genes from working as they should.

Key Role

The ACTB and ACTG1 genes are important for many cell functions. These include the movement and division of cells as the body develops.

Symptoms

People who have BWCFF syndrome can have challenges in developing communication, social, and learning skills. They may act differently or interact with others differently.

People who have BWCFF syndrome have some but not all of these features:

  • Changes in facial features
  • Intellectual disability, developmental delay
  • Problems in the formation of the eye, also called coloboma
  • Changes in brain structure
  • Hearing loss
  • Muscle weakness and decrease in size of certain muscles

Do people who have BWCFF-related syndrome look different?

People who have BWCFF syndrome generally look different from others. Appearance can vary and can include some but not all of these features:

  • Differences in facial features, including increased distance between the eyes, broad nose, ridging at the center of the forehead, droopy eyelids, and highly-arched eyebrows.
  • Problems in the formation of the eye, also called coloboma.
  • Muscle weakness and decrease in the size of certain muscles.

How many people have BWCFF-related syndrome?

As of 2022, about 100 people in the world with Baraitser-Winter cerebrofrontofacial syndrome have been described in medical research.

Learn more about the ACTB gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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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.

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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.

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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.

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Family Stories

We do not currently have any stories from ACTB families.

Click here to share your family’s story!