Morquio Syndrome
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Morquio Syndrome is a genetic and progressive condition that causes changes to the body’s organs, ribs, spine, and other bones. It is a rare disease that affects around 1 in 200,000 births.
Morquio Syndrome occurs when the body isn’t able to break down a certain type of enzyme that breaks down sugar chains in the body, causing the sugar chains to accumulate. These sugar chains help build cartilage, connective tissue, skin, bone, and the corneas, and the accumulation of the chains can lead to damage to the structures the chains help build.
Symptoms
Some symptoms of Morquio Syndrome are scoliosis, short stature, double-jointedness, knock knees, and coarse facial features (including thick eyebrows, wide nose, and thickened lips and chin). Symptoms usually start appearing starting from ages 1-3.
Other more severe effects of Morquio Syndrome include heart problems, vision problems, airway obstruction, cloudy corneas, an enlarged liver, and even paralysis.
Treatment
Because there is no cure for Morquio Syndrome, it is a lifelong disease. Treatment varies based on each person’s symptoms. For example, surgery, leg braces, wheelchairs, and physical therapy can help with symptoms such as scoliosis and knock knees.
Fun fact: In the book Freak the Mighty, one of the main characters, Kevin, has Morquio Syndrome.
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