Below is a summary for the ATRX gene observed in research publications. This is not meant to take the place of medical advice.
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. This syndrome is also known as alpha thalassemia X-linked intellectual disability syndrome.
The ATRX gene helps to keep the cell’s genetic material intact.
Because the ATRX gene is important in the development and function of brain cells, many people who have ATRX-related syndrome have:
- Developmental delay, or intellectual disability, or both
- Low muscle tone
- Changes in the genitals
- Blood disorders, including alpha thalassemia, which is a problem in the production of the oxygen-carrying protein, known as hemoglobin, in red blood cells
Do people with ATRX-related syndrome look different?
People who have ATRX-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Small head size
- Upsweep of the frontal hair
- Widely spaced eyes
- Short triangular nose
80 to 90 percent of people who have ATRX-related syndrome have low muscle tone.
75 to 85 percent have small head size, known as microcephaly. 60 to 70 percent are short.
Everyone who has ATRX-related syndrome that has been studied to date has a developmental delay or intellectual disability.
Learn more about ATRX and connect with other Simons Searchlight families with the resources below:
Research Article Summaries