Below is a summary for the ARX gene observed in research publications. This is not meant to take the place of medical advice.

What is ARX-related syndrome?

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

ARX-related syndrome is also called Partington syndrome and Proud syndrome. Other names may also be used, depending on the medical features a person has.

The ARX gene is located on the X chromosome, one of the sex chromosomes, and males usually have the condition. But, sometimes females have the condition, including the female biological parent.

Key Role

The ARX gene is important for development of the central nervous system in humans, starting in utero.


Because the ARX gene is important for cells in the brain, many people may have:

  • Developmental delay
  • Intellectual disability
  • Low muscle tone, some may have high muscle tone
  • Movement disorder
  • Vision issues
  • Speech issues
  • Genital development issues 
  • Seizures
  • Brain changes seen on magnetic resonance imaging (MRI)

Do people who have ARX-related syndrome look different?

People who have ARX-related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Small head size
  • Changes in facial features, which might not be the same in every person
  • Sideways curvature of the spine, also called scoliosis

How many people have ARX-related syndrome?

Because of the many different names for this condition, it is difficult to count individuals in the medical literature. There have been at least 60 people identified clinically as of 2022.


Support Resources



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 ARX.


Research Article Summaries

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

The information available about ARX 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 ARX 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 ARX 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.


Family Stories

We do not currently have any stories from ARX families.

Click here to share your family’s story!