VPS13B
The information for this summary of VPS13B-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full VPS13B Gene Guide
The online Gene Guide includes more information about VPS13B such as the chance of having another child with this condition, behavior and development concerns linked to VPS13B-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
VPS13B-related syndrome is also called Cohen syndrome. For this webpage, we will be using the name VPS13B-related syndrome to encompass the wide range of variants observed in the people identified.
What is VPS13B-related syndrome?
VPS13B-related syndrome happens when there are changes in the VPS13B gene. These changes can keep the gene from working as it should.
Key Role
The VPS13B protein plays an important role in the growth and development of brain cells and in fat storage and distribution in the body.
Symptoms
Because the VPS13B gene is important for brain activity, many people who have VPS13B-related syndrome have:
- Developmental delay
- Intellectual disability
- Brain changes seen on magnetic resonance imaging (MRI)
- Heart structure defects
- Sideways curve of the spine, also called scoliosis
- Very flexible joints
- Low muscle tone
- Delayed motor skills
- Delayed puberty
- Issues with producing growth hormone
- Issues with the body making certain blood cell types
- Obesity
- Very social behavior
How many people have VPS13B-related syndrome?
As of 2025, more than 200 people with VPS13B-related syndrome have been described in medical research.
Support Resources
- Simons Searchlight Community – VPS13B Facebook group
- Cohen Syndrome Research Foundation website – csrfoundation.org
- Cohen Syndrome Association – Facebook page
- Geisinger Developmental Brain Disorder Gene Database – VPS13B
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 Cohen Syndrome.
Research Article Summaries
We currently do not have any article summaries for VPS13B, but we add resources to our website as they become available.
The information available about VPS13B 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 VPS13B 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 VPS13B genetic changes by taking part in our research. You can learn more about the project and sign up here.
External Research Opportunity: FaceMatch
FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.
Family Stories
We do not currently have any stories from VPS13B families.
Click here to share your family’s story!