What Is ATR-X Syndrome?

Medically Reviewed by Dan Brennan, MD on February 06, 2022
3 min read

If your child has ATR-X syndrome, it means they have a condition that will put serious limits on how well they can learn, reason, and communicate. It's a rare disorder that's passed down through your family.

There's no cure, but talk to your doctor about early intervention programs that can help your child achieve their own potential. And reach out to family and friends to get the emotional backing you need. Your doctor may also have suggestions for support groups, where you can meet with other parents who are facing the same challenges.

ATR-X syndrome is caused by changes, known as mutations, in a gene called ATRX that's passed from parent to child.

The ATRX gene plays a role in a child's development. Any defect can lead to changes that cause intellectual disability and other symptoms of the disease.

ATR-X syndrome almost only affects boys. Women can be carriers of the disorder, but they almost never have symptoms.

Symptoms vary from person to person. Many of them you may notice when your child is an infant. Other problems may not show up until your kid gets older.

Some common symptoms are:

Intellectual disability. This means your child may:

  • Learn more slowly
  • Have a hard time letting others know what they want or need
  • Have trouble eating or getting dressed on their own
  • Find it tough to remember things
  • Not be able to understand the results of their actions
  • Have trouble solving problems

Serious delays in speech and walking. Most people with ATR-X syndrome never speak or sign more than a few words.

The disorder also causes weak muscle tone. That delays motor skills, like sitting, standing, and walking. Some people never learn to walk on their own.

Unique facial features. These include:

  • Widely spaced eyes
  • Small nose, with upturned nostrils
  • Low-set ears
  • Upper lip that's shaped like an upside-down "V"
  • Lower lip that sticks out a little

Abnormal genitals. In some cases, testes may not move down into the scrotum, or the opening of the urinary tract may be out of place.

Other symptoms may include:

  • Head size that's much smaller than normal
  • Shorter height
  • Signs of a blood disorder called alpha thalassemia


Doctors may suspect ATR-X syndrome when a child is born or early in life, based on their symptoms. They may see unique facial features, for example, or notice signs of developmental delay.

To diagnose the disorder, your doctor may order specific blood tests or do a gene test to look for the mutated ATRX gene.

There's no one-size-fits-all approach to treating ATR-X syndrome. Your doctor will come up with a plan to manage the disease that's based on your child's symptoms and how serious they are.

It's likely your child will need to see a variety of health professionals, including a speech therapist and orthopedist. They will create a treatment plan that targets any specific problems. You doctor will also monitor how your child grows and develops. Ask them how you can find out about special education services.

There will be lots of challenges, but you don't have to face them alone. Check with organizations that can give you information about your child's condition and put you in touch with support groups. Some places to start are the websites of groups like the American Association on Intellectual and Developmental Disabilities (AAIDD) and the Genetic and Rare Diseases (GARD) Information Center.