What Is ATR-X Syndrome?

If your child has ATR-X syndrome, it means he has a condition that will put serious limits on how well he 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 his 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.

What Causes It?

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.

What Are the 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 he wants or needs
  • Have trouble eating or getting dressed on his own
  • Find it tough to remember things
  • Not be able to understand the results of his 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

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How Is It Diagnosed?

Doctors may suspect ATR-X syndrome when a child is born or early in life, based on his 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.

How Is It Treated?

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 him 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.

WebMD Medical Reference Reviewed by Dan Brennan, MD on February 14, 2018

Sources

SOURCES:

Genetics Home Reference: "Alpha Thalassemia X-linked Intellectual Disability Syndrome," "ATRX Gene."

CDC: "Facts About Intellectual Disability."

Gene Reviews: "Alpha Thalassemia X-linked Intellectual Disability Syndrome."

National Organization for Rare Disorders: "Alpha Thalassemia X-linked Intellectual Disability Syndrome."

Genetic and Rare Disease Information Center: "Alpha Thalassemia X-linked Intellectual Disability Syndrome."

American Association on Intellectual and Developmental Disabilities: "Frequently Asked Questions About Intellectual Disability."

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