Morquio Syndrome

Nemours is world-renowned for skeletal dysplasia diagnosis and treatment. We strive to maximize children’s mobility, correct deformity, and prevent future complications. If your child’s been diagnosed with Morquio syndrome (a type of skeletal dysplasia), we’re here to ease your concerns, answer your questions, and give your child the best possible chance for a healthy future.

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Nemours Children's Hospital in Orlando


13535 Nemours Parkway
Orlando, FL 32827
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For Appointments: (407) 650-7715
Hours: Monday–Friday, 8 a.m. to 5 p.m.

 
What to Bring
  • photo ID
  • medical and pharmacy insurance cards
  • preferred pharmacy name and phone number
  • names and dosage of all medications, including over-the-counter medication, your child is currently taking
  • guardianship and custody papers, if a legal guardian rather than a parent accompanies your child
New Patients

Bring these forms for your first appointment:

Returning Patients
  • Patient Presents Without Legal Guardian (PDF)
    English | Spanish
    Note: A parent or legal guardian must be with a child for a first visit.
 
Forms & Resources
New Patient Forms
Returning Patient Forms
  • Patient Presents Without Legal Guardian (PDF)
    English | Spanish
    Note: A parent or legal guardian must be with a child for a first visit.
Resources for Patients & Families

Renowned pediatric orthopedists and geneticists at Nemours Children’s Hospital in Orlando provide comprehensive care for children with Morquio syndrome, one of a group of disorders referred to as mucopolysaccharidosis (MPS or MPS IV). It’s a progressive form of skeletal dysplasia that affects, among other things, cartilage (flexible connective tissue) and bone growth. Morquio syndrome is a genetic condition that occurs as one of two types (A and B) with developmental features that may include a short trunk causing short stature (dwarfism) and abnormalities in the joints, chest and spine.

At Nemours, our goal is to help children with all forms of skeletal dysplasia achieve the highest level of mobility, function and health possible. Here, you’ll find doctors, surgeons, counselors, nurses and staff who are uniquely qualified and share a strong commitment to your child’s long-term health and wellness. As a team, we work together to manage the physical, emotional and social complexities that come with this condition, and to provide maximum ability and freedom as your child grows and develops.

Learn More About Skeletal Dysplasia Care at Nemours Children’s Hospital »

Expert Care for Children With Morquio Syndrome in Central Florida

Morquio syndrome is rare inherited disease and only a handful of hospitals in the country treat children with this condition. At Nemours Children’s Hospital, we evaluate children with all types of skeletal dysplasia, including Morquio syndrome, from both a genetic and orthopedic perspective.

 
Causes of Morquio Syndrome

Morquio syndrome is caused by a genetic change (or mutation) in the GNALS or the GLB1 gene involved in breaking down sugar chains (called glycosaminoglycans) that are important in forming cartilage and connective tissue, as well as skin and the corneas in the eyes. Morquio syndrome type A involves a missing galactosamine-6 sulfatase enzyme and type B involves an insufficient production of the enzyme called beta-galactosidase which, over time, causes damage to the cells and skeletal malformations. Morquio syndrome is inherited when both parents pass down the defective gene.

 
Morquio Syndrome Symptoms

Morquio syndrome symptoms are progressive, or occur as a child grows and develops. In addition to short stature and a short trunk, Morquio syndrome symptoms can include curvature (scoliosis) and rounding (kyphosis) in the spine, knock-knees and craniofacial anomalies such as a large head and course facial feature.

Children with Morquio syndrome may also have clouding of the cornea, trouble breathing, hearing problems and heart defects. Your Nemours team of specialists will look for and assist in managing these symptoms.

Learn More About Morquio Syndrome and Related Children’s Health Topics From Nemours’ KidsHealth.org »

Evaluating Morquio Syndrome in Infants and Children

Your child’s evaluation for Morquio syndrome at Nemours Children’s Hospital will begin with a diagnostic appointment with one of our pediatric orthopedic experts in skeletal dysplasias. We can often make a diagnosis in our initial evaluation, but, depending on your child’s condition, we may recommend additional diagnostic testing and further evaluation with a geneticist.

 
Your Child’s First Visit: What to Expect

Because of the complexity involved in making a firm diagnosis in some types of skeletal dysplasias, including Morquio syndrome, a great deal of information is collected at the initial visit, so it may take an hour or two to complete. During your visit, we’ll:

  • obtain your child’s medical history and a three-generation family medical history
  • review your child’s medical records and previously obtained X-rays
  • perform a physical examination, including detailed measurements of your child’s joint motions (how much each joint can move) and the lengths of arm and leg bones
 
If Your Child Needs Additional Diagnostic Tests

At Nemours Children’s Hospital we provide advanced testing to help us diagnose Morquio syndrome and develop an effective treatment plan based on your child’s specific needs. Tests may include:

  • imaging: X-ray, ultrasound, CT (computed tomography) and MRI (magnetic resonance imaging)
  • biochemical tests: determine levels of critical proteins in a sample of blood, urine or other fluid or tissue
  • molecular tests: determine a child’s genetic makeup and confirm the clinical diagnosis
Treating Morquio Syndrome

Skeletal dysplasias, including Morquio syndrome, are often associated with complex medical and surgical needs. At Nemours, we have an experienced team of health professionals and well-equipped facilities to provide convenient, comprehensive multispecialty care for your child and family.

While there is no cure or simple treatment for Morquio syndrome, in some cases, surgical procedures may increase mobility and relieve (and prevent) related complications. We’ll work with your family to help you understand the available treatment options.

Learn About Limb Lengthening at Nemours Children's Hospital »

 
Coping & Support for the Entire Family

To help make the experience as comfortable as possible, we also provide emotional and psychosocial support and many other services for your child and family, including:

Learn More About the Support Services and Amenities at Nemours Children’s Hospital »