RERE

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

Click here for our full RERE Gene Guide

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

RERE-related syndrome is also called neurodevelopmental disorder with or without anomalies of the brain, eye, or heart. For this webpage, we will be using the name RERE-related syndrome to encompass the wide range of variants observed in the people identified.

What is RERE-related syndrome?

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

Key Role

The RERE gene plays a key role in the development of the brain, heart, and eyes.

Symptoms

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

  • Developmental delay, or intellectual disability, or both
  • Autism spectrum disorder or features of autism
  • Low muscle tone, also called hypotonia
  • Seizures
  • Changes in the structure of the heart
  • Behavioral issues, including attention-deficit/hyperactivity disorder (ADHD) and self-injurious behavior
  • Feeding issues
  • Vision/eye issues
  • Hearing loss
  • Genitourinary defects
  • Gastrointestinal issues
  • Brain changes observed on magnetic resonance imaging (MRI)

How many people have RERE-related syndrome?

As of 2024, over 60 people with RERE-related syndrome have been described in medical research.

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

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Support Resources

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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.

Check out the GeneReviews for RERE.

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Research Article Summaries

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

The information available about RERE 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 RERE articles can be found here.

You can also visit the SImons Foundation’s SFARI Gene website to see information for researchers about this gene.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about RERE 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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Family Stories

We do not currently have any stories from RERE families.

Click here to share your family’s story!