ATRX

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

Click here for our full ATRX Gene Guide

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

ATRX-related syndrome is also called alpha thalassemia X-linked intellectual disability syndrome, ATR-X syndrome, and intellectual disability-hypotonic facies syndrome, X-linked. For this webpage, we will be using the name ATRX-related syndrome to encompass the wide range of variants observed in the people identified.

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What is ATRX-related syndrome?

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

Key Role

The ATRX gene helps to keep the cell’s genetic material intact.

Symptoms

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

Developmental delay, or intellectual disability, or both
Low muscle tone
Blood disorders, including alpha thalassemia, which is a problem in the production of the oxygen-carrying protein, known as hemoglobin, in red blood cells
Small penis in males
A curve in the spine called kyphoscoliosis
Seizures
Speech issues
Lower than average muscle tone

How many people have ATRX-related syndrome?

As of 2024, about 151 people with ATRX-related syndrome have been identified in a medical clinic.

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

Support Resources

Simons Searchlight Community – ATRX Facebook group
ATRX Research Alliance – website
Unique – ATRX Guidebook

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 ATRX.

Research Article Summaries

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

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

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

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about ATRX 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.