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.

Each family is different. A geneticist or genetic counselor can give you advice on the chance that this will happen again in your family.

• The risk of the same biological parents to a child with an autosomal recessive genetic condition, having another child who has VPS13B-related syndrome is almost always 25 percent.
• The chance of two carrier parents having a child who is also a carrier is 50 percent. Carriers are not expected to have symptoms.
• The chance of them having a child who is not a carrier at all is 25 percent.

For a person who has VPS13B-related syndrome, the risk of having a child who has the same syndrome depends on their partner.

• If their partner is a carrier, they have a 50 percent chance of having a child who has the syndrome and a 50 percent chance of having a child who is a carrier.
• If their partner is not a carrier, they have nearly a 0 percent chance of having a child who has the syndrome and a 100 percent chance of having a child who is a carrier.

As of 2025, more than 200 people with VPS13B-related syndrome have been described in medical research.

People with VPS13B-related 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

Scientists and doctors have only just begun to study VPS13B-related syndrome. At this point, there are no medicines designed to treat the syndrome. A genetic diagnosis can help people decide on the best way to track the condition and manage therapies. Doctors can refer people to specialists for:

• Physical exams and brain studies
• Genetics consults
• Development and behavior studies
• Other issues, as needed

A developmental pediatrician, neurologist, or psychologist can follow progress over time and can help:

• Suggest the right therapies. This can include physical, occupational, speech, or behavioral therapy.
• Guide individualized education plans (IEPs).

Specialists advise that therapies for VPS13B-related syndrome should begin as early as possible, ideally before a child begins school.

If seizures happen, consult a neurologist. There are many types of seizures, and not all types are easy to spot. To learn more, you can refer to resources such as the Epilepsy Foundation’s website: www.epilepsy.com/learn/types-seizures.

Speech and learning

All people with VPS13B-related syndrome had developmental delays in the first year of life. Most had intellectual disability in the moderate to profound range, and they were able to speak sentences on average by the age of 5 years old.

Behavior

People with VPS13B-related syndrome were usually described as having a cheerful and friendly disposition.

Brain

Some people with VPS13B-related syndrome had neurological medical issues, including seizures, low muscle tone (hypotonia), hypermobile joints, a smaller than average head size (microcephaly), and brain changes seen on magnetic resonance imaging (MRI).

Growth

Many people with VPS13B-related syndrome had failure to thrive and short height early in development. Teens tended to have delayed puberty and they gained weight rapidly, becoming overweight.

Blood and immunological findings

People with VPS13B-related syndrome had low levels of white blood cells (neutropenia). White blood cells help people fight infections, and research suggests that people with VPS13B-related syndrome have more frequent infections.

Vision

Usually, people over the age of 4 years old, had nearsightedness (myopia) and/or retinal dystrophy. Other vision findings included but were not limited to crossed eyes (strabismus) or cataracts.

Cohen Syndrome Research Foundation

The Cohen Syndrome Research Foundation is a resource for families looking for information, a repository for medical professionals seeking standards of care and research studies, and a driving force behind researchers seeking to improve outcomes of those with Cohen Syndrome.

• https://csrfoundation.org/

Cohen Syndrome Association 

The Cohen Syndrome Association aims to raise awareness for earlier diagnosis of Cohen Syndrome.

• http://www.cohensyndrome.org/

Simons Searchlight

Simons Searchlight is an online international research program, building an ever growing natural history database, biorepository, and resource network of over 175 rare genetic neurodevelopmental disorders. By joining their community and sharing your experiences, you contribute to a growing database used by scientists worldwide to advance the understanding of your genetic condition. Through online surveys and optional blood sample collection, they gather valuable information to improve lives and drive scientific progress. Families like yours are the key to making meaningful progress. To register for Simons Searchlight, go to the Simons Searchlight website at www.simonssearchlight.org and click “Join Us.”

• Learn more about Simons Searchlight: www.simonssearchlight.org/frequently-asked-questions

• Simons Searchlight webpage with more information on VPS13B: www.simonssearchlight.org/research/what-we-study/vps13b

• Simons Searchlight VPS13B Facebook community: https://www.facebook.com/groups/vps13b