Testing and diagnosis

Diagnostic evaluation usually begins with a thorough medical history and physical examination of your child. At Children’s Hospital of Philadelphia (CHOP), clinical experts use a variety of diagnostic tests to diagnose Morquio syndrome and possible complications, including:

• Genetic testing, in which a sample of your child’s saliva or blood is used to identify any abnormalities in your child’s DNA.
• X-rays, which produce images of bones
• Magnetic resonance imaging (MRI), which uses a combination of large magnets, radiofrequencies and a computer to produce detailed images of organs and structures within the body
• Echocardiogram, a test that determines the structure of the heart and how well it is functioning
• Skin fibroblast culture, in which a small piece of skin is removed during a short surgical procedure, then tested to see how collagen and other skin substances are functioning
• Eye exam and hearing test
• Blood and urine tests

Treatments

Morquio syndrome is treated in many ways, because the condition can affect several body systems. The treatment a child needs depends on the severity of his symptoms. Some children might only require careful monitoring. Others may need non-surgical or surgical treatments to address specific aspects of their condition. Every child’s condition is different, so treatment is determined on a case-by-case basis.

At Children’s Hospital of Philadelphia, we practice collaborative, family-centered care. A team of expert clinicians — including leading physicians, pediatric nurses, physical and occupational therapists, psychologists and other specialists — will partner with you in the care of your child.

Many children with Morquio syndrome are diagnosed with orthopedic conditions including: scoliosis, kyphosis, skeletal dysplasia, narrow chest, joint conditions and leg deformities. In some cases, these conditions are present at birth and can be treated when the child is very young.

In other cases, the complications from Morquio syndrome may only become evident — or problematic — as your child grows. This is often true for spinal deformities, limb deformities and joint issues.

Depending on your child’s needs, orthopedic specialists from our Spine Program, Hip Disorders Program, Leg Disorders Program or Sports Medicine may treat your child.

For example, if your child has scoliosis, our team of specialists will consider the severity of the curve, where it occurs in the spine, and your child's age and stage of growth, before determining the best course of action. Treatment for scoliosis may include non-surgical options such as bracing and physical therapy, or surgical options such as spinal fusion or implanting growing rods to stabilize your child’s spine as he continues to grow.

Follow-up care

Your child with Morquio syndrome will likely need to see several specialists throughout childhood and adolescence. At CHOP, we have expert physicians in every pediatric specialty. We offer follow-up care, ongoing support and services at our Main Campus and throughout our CHOP Care Network. Our team is committed to partnering with parents and referring physicians to provide the most current, comprehensive and specialized care possible for your child.

If your family has a history of Morquio syndrome, genetic counseling is recommended — especially if you are considering having more children.

Outlook

Long-term outcomes for children with Morquio syndrome vary from child to child. Most children with Morquio syndrome have normal intelligence.

Children with spine and bone conditions can have difficulty walking and may require a wheelchair; others may be more mobile. Some children have ongoing breathing, vision or cardiac issues that may become more serious in adulthood.

Current research into treatments for Morquio syndrome includes:

• Enzyme replacement therapy
• Gene therapy
• Allogenic bone marrow transplantation

If successful, enzyme or gene therapy would replace or supplement missing enzymes.