RORB

The information for this summary of RORB-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full RORB Gene Guide 

The online Gene Guide includes more information about RORB such as the chance of having another child with this condition, behavior and development concerns linked to RORB-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

What is RORB-related syndrome?

RORB-related syndrome happens when there are changes in the RORB gene. These changes can keep the gene from working as it should.

The RORB gene is located on chromosome 9, in a region called 9q21. Chromosomes are structures in our cells that house our genes.

Some people are missing a piece of chromosome 9q21 that includes the RORB gene and have what is called 9q21-related syndrome. Others have a small change within the RORB gene itself. People with these syndromes have similar symptoms.

Key Role

The RORB gene plays a key role in the growth of different types of brain cells.

Symptoms

Because the RORB gene is important for brain activity, many people who have RORB-related syndrome have:

  • Developmental delay, or intellectual disability, or both
  • Autism or features of autism
  • Seizures
  • Speech issues
  • Aggression
  • Sensitivity to light

How many people have RORB-related syndrome?

As of 2024, at least 50 people with RORB-related syndrome have been identified in a medical clinic.

Learn more about the RORB gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

  • Simons Searchlight Community – RORB Facebook group
  • Geisigner Developmental Brain Disorder Gene Database – RORB
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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.

There is currently no GeneReviews for RORB.

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Research Article Summaries

We currently do not have any article summaries for RORB, but we add resources to our website as they become available.

The information available about RORB 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.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about RORB genetic changes by taking part in our research. You can learn more about the project and sign up here.

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Family Stories

We do not currently have any stories from RORB families.

Click here to share your family’s story!