BWCFF

Below is a summary for the BWCFF 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 BWCFF Syndrome?

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.
BRAIN

One-half of those who have BWCFF syndrome have epilepsy or seizure disorder, which can vary in severity.

EYES AND EYESIGHT

Developmental eye defects, also called coloboma, were found in 30 percent of people.

MUSCLE TONE

Many people have curvature of the spine or shortened muscles in the arms and legs that limit normal body and joint movements..

+

Support Resources

At this time, we are not aware of support groups for families with changes in BWCFF. More families who have changes in BWCFF will likely be found in the future. 
+

Research Article Summaries

+

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about TCF20 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 BWCFF families.

Click here to share your family’s story!