Overview Symptoms & Causes Diagnosis & Treatments Related Programs & Services Contact Us
Request an Appointment
Get a Second Opinion
Test
Test

What is Morquio syndrome?

Morquio syndrome is a rare genetic condition that affects a child’s bones and spine, organs, and physical abilities. Children with this condition are missing or don’t produce enough of the enzymes that break down sugar chains naturally produced in the body. These chains accumulate in cells, blood, tendons, and ligaments, causing damage over time.

Symptoms & Causes

What are the symptoms of Morquio syndrome?

Signs and symptoms of Morquio syndrome typically appear between ages 1 and 3. Children with Morquio syndrome may develop:

What causes Morquio syndrome?

Morquio syndrome is a recessive genetic condition — both parents must carry the gene and pass it to the child.

Diagnosis & Treatments

How is Morquio syndrome diagnosed?

Diagnosis of Morquio syndrome starts with a thorough medical history and physical exam. Your child’s doctor might order:

  • Genetic testing
  • X-ray images to produce images of your child’s bones
  • MRI scans to produce images of organs and other structures
  • Echocardiogram to examine the heart and its functioning
  • Laboratory tests

How is Morquio syndrome treated?

Boston Children’s treats every child diagnosed with Morquio syndrome based on the symptoms. All children need monitoring. Orthopedic conditions like scoliosis, kyphosis, and leg deformities affect many children with Morquio syndrome and may require surgical intervention. A medication has been developed to help in the treatment of Morquio, but currently there is no cure. Based on your child’s symptoms, the care team may recommend careful monitoring or non-surgical treatment.

How we care for Morquio syndrome

Children with Morquio syndrome receive care from various specialists at Boston Children’s. Your child’s care team may include specialists from clinical genetics, orthopedics, pulmonology, and cardiology. Morquio syndrome is a progressive condition; your child’s medical needs may change over time. Her specialists at Boston Children’s work closely and carefully with each other and your family to ensure she receives the best care.

Practitioners Who Specialize In This Condition (2)

Carley Vuillermin, MBBS, MPH, FRACS

Carley Vuillermin, MBBS, MPH, FRACS

Orthopedic Surgeon, Orthopedics and Sports Medicine Department
Associate Professor of Orthopedic Surgery, Harvard Medical School
View Profile