MORQUIO SYNDROME - WatsonsHealth

MORQUIO SYNDROME

Morquio syndrome is an uncommon congenital medical problem that manifests itself when the child is aged 1 to 3 years old. The signs and symptoms of this disorder are progressive and may get worse as the child grows. It belongs to a group of diseases known as mucopolysaccharidosis (MPS). Morquio is also known as MPS IV.

In this medical condition, the body cannot digest glycosaminoglycans, which are sugars that help build bone, cartilage, eye corneas, skin and connective tissue such as tendons, and ligaments. This is due to a lack of enzymes. As a result, there is a build-up of glycosaminoglycans in cells, blood and connective tissue, further causing organ failure later on.

Types

There are two types of Morquio syndrome:

  • Type A, wherein there is a lack of galactosamine-6-sulfatase
  • Type B, wherein there inadequate beta-galactosidase enzyme

 

Signs and symptoms

Symptoms of Morquio syndrome include the following:

  • Short stature
  • Abnormal bone and spine development
  • Hypermobile joints
  • Large head
  • Widely-spaced teeth
  • Coarse facial features which may include prominent scalp veins, flat-bridged nose and bulging forehead
  • Possible heart and eye problems

DIAGNOSIS

Morquio syndrome is diagnosed with a medical history, a physical exam and the following tests:

  • Genetic testing
  • X-rays
  • Magnetic resonance imaging (MRI)
  • Echocardiogram
  • Skin fibroblast culture
  • Eye exam and hearing test
  • Blood and urine tests

 

TREATMENT

Morquio syndrome is usually treated based on the severity and location of the symptoms. While some children only require monitoring, some would need medical or surgical treatments.

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