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Morquio Syndrome

What Is Morquio Syndrome?

Morquio syndrome is a rare genetic condition that leads to short stature, bone abnormalities, and other medical problems.

What Are the Signs & Symptoms of Morquio Syndrome?

Signs of Morquio (MORE-kee-oh) usually begin around a child's first birthday. The signs can vary but often include:

Morquio syndrome is progressive. This means that it gets worse over time. 

What Causes Morquio Syndrome?

In Morquio syndrome, an is either missing or the body doesn't make enough of it. The missing enzyme breaks down sugars (called mucopolysaccarides) that help build bones, , corneas, skin, and connective tissue. When the sugar breaks down, the body can get rid of it.

But in Morquio syndrome, the sugar builds up in blood, cells, and , progressively damaging the body. The less enzyme there is, the faster Morquio syndrome progresses.

Other types of disorders also do not break down mucopolysaccarides normally. This group of disorders is called mucopolysaccharidosis (MPS). Morquio syndrome is also called MPS IV.

Who Gets Morquio Syndrome?

Morquio syndrome is a genetic condition. It is passed down in families through their genes. For someone to have Morquio syndrome, they need to get the specific gene from their mother and father.

How Is Morquio Syndrome Diagnosed?

To diagnose Morquio syndrome, doctors start by asking questions and doing an examination. Testing usually includes:

  • blood tests and urine (pee) tests to look at enzyme activity
  • genetic testing
  • imaging studies like X-rays and MRIs
  • echocardiogram to check the heart
  • hearing tests and vision tests

How Is Morquio Syndrome Treated?

There's no cure for Morquio syndrome. But treatments can help improve the quality of life for those who have it. These can include:

  • enzyme replacement through an IV (into a vein) line
  • surgery

What Else Should I Know?

Medical researchers are looking for ways to help people with Morquio syndrome. They're looking into:

  • enzyme replacement therapy
  • gene therapy to replace genes that make the needed enzymes
  • bone marrow transplant to replace cells with missing or lacking enzyme with normal cells

Where Can We Get Help?

If your child has been diagnosed with Morquio syndrome, you may have a lot of strong feelings. Your child will need lifelong care and this can feel overwhelming. Online resources can help you find information and connect with other families who have children with Morquio syndrome.

Find help at:

You may also want to meet with a genetic counselor. This will help you understand the risk of having another child with Morquio syndrome.

Looking Ahead

Because Morquio syndrome is a lifelong condition, your child will need your support. You can help by:

  • teaching your child about Morquio syndrome
  • taking your child to all medical appointments
  • keeping a written record of your child's symptoms, treatments, and doctor visits
  • taking care of yourself so you can care for your child