Below is a summary for Cohen syndrome observed in research publications. This is not meant to take the place of medical advice.
What is Cohen syndrome?
Cohen syndrome happens when there are changes in both copies of the VPS13B gene. These changes can keep the gene from working as it should.
The VPS13B protein plays an important role in the growth and development of brain cells, and fat storage and distribution in the body.
Because the VPS13B gene is important for the proper function of the body’s cells, some people may have:
- Heart structure defects
- Sideways curvature of the spine, also called scoliosis
- Very flexible joints
- Low muscle tone
- Intellectual disability
- Delayed motor skills
- Brain changes seen on magnetic resonance imaging (MRI)
- Delayed puberty
- Issues with producing growth hormone
- Issues with the body making certain blood cell types
- Very social behavior
Do people who have Cohen syndrome look different?
People with Cohen syndrome may look different. Appearance can vary and can include some but not all of these features:
- Smaller than average head size
- Shorter than average height
- Eye and vision issues
- Small lower jaw
- High nose bridge
- Narrow hands and feet
How many people have Cohen syndrome?
As of 2022, more than 250 people with Cohen syndrome have been identified in a medical clinic.
- Simons Searchlight Community – VPS13B Facebook group
- Cohen Syndrome Association website – cohensyndrome.org
– Cohen Syndrome Association – Facebook page
- Geisinger Developmental Brain Disorder Gene Database – VPS13B
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.
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.
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