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