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