Morquio Syndrome

The fellowship-trained pediatric orthopedic specialists with Norton Children’s Orthopedics of Louisville (COOL), affiliated with the UofL School of Medicine, are the foremost providers of pediatric orthopedic care for children and teens with Morquio syndrome in Louisville and Southern Indiana.

What Is Morquio Syndrome?

Morquio syndrome is a very rare inherited condition. The condition causes the body to not have any or enough enzymes to break down sugar chains (glycosaminoglycans). Glycosaminoglycans help build bone, cartilage, the corneas of the eye, skin and connective tissues, such as tendons and ligaments. The condition causes glycosaminoglycans to build up in the cells, blood and connective tissue, which can cause damage over time. There are two types of Morquio syndrome:

  • Type A: The body can’t create the galactosamine-6-sulfatase enzyme
  • Type B: There isn’t enough of the beta-galactosidase enzyme

Depending on the type, Morquio syndrome can cause:

  • Cloudy corneas in the eyes
  • Curvature in the spine (scoliosis or kyphosis)
  • Enlarged liver
  • Heart murmur
  • Inguinal hernia
  • Loss of nerve function below the neck

Morquio Syndrome Symptoms

Morquio syndrome symptoms may include:

  • Abnormal bone and spine development that can cause severe scoliosis
  • Bell-shaped chest, where the ribs flare out at the bottom
  • Hypermobile joints, also called double jointed, in which the joints are easy to bend in unusual positions
  • Facial features such as prominent veins in the scalp, a flat-bridge nose or bulging forehead
  • Heart or vision conditions
  • Knock-knees, which are knees that point inward and can touch when the child walks
  • Larger head
  • Widely spaced teeth

Morquio Syndrome Treatment

Treatment plans for Morquio syndrome will be unique based on a child’s age, diagnosis and current condition. Many children with Morquio syndrome are diagnosed with orthopedic conditions including:

Treatment will depend on the child’s orthopedic symptoms. Some children simply may need monitoring, while others may need nonsurgical or surgical interventions. The pediatric orthopedic specialists with COOL will create a unique treatment plan for the child.

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