A genetic defect coming in two forms, A and B. Regardless of the form there is an accumulatioin in the body and brain of large amounts of mucopolysaccharide. This can lead to many symptoms:
  • Coarse facial features
  • macrocephaly
  • Widely spaced teeth
  • Knock-knees
  • oddly shaped chest with ribs flared out at bottom
  • Short stature with an especially short trunk
  • Hypermobility of joints
  • Abnormal bone developement including the spine
  • Compression of the spinal that can lead to weakness or paralysis
Diagnosis requires a multitude of blood tests and X-rays. There is no treatment for the syndrome as a whole, and symptoms must be dealt with as they appear. The most important area to focus on is the spine, as if the bones do not develop properly the cord can be severed.

Because it is caused by a recessive trait, genetic counselling is recommended for those with a family history of the syndrome.

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