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.
Research Article Summaries