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.
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
- 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.
Research Article Summaries