Mucopolysaccharidosis Type VI

Symptoms

What health problems should I look for in Mucopolysaccharidosis Type VI?

In addition to the main health issues in mucopolysaccharidosis type VI (MPS VI):

  • skeletal abnormalities - short stature, joint contractures (shortening or hardening of the joints which limits movement), and narrowing of the spinal cord
  • a large head (macrocephaly)
  • too much fluid in the brain (hydrocephalus)
  • distinctive facial features that may be described as "coarse", including a large tongue (macroglossia)
  • heart valve abnormalities
  • an enlarged liver and spleen (hepatosplenomegaly)
  • a soft out-pouching around the belly-button (umbilical hernia) or lower belly (inguinal hernia)
  • a narrow airway which can cause frequent respiratory infections and sleep apnea (when there are pauses in breathing or very shallow breaths during sleep)
  • the cornea (clear covering of the eye) may become cloudy and cause vision loss
  • recurrent ear infections and hearing loss

Other health problems may include carpal tunnel syndrome, where there is numbness, tingling, or weakness in the hands and fingers. Children may have teeth that are small, widely spaced apart, and have weak enamel (the hard outer layer of the tooth). Their teeth may also have trouble coming through the gums, leading to infections in the mouth.

http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vi

Maroteaux-Lamy Syndrome - Signs & Symptoms: http://www.maroteaux-lamy.com/en-us/pages/patient/Signs.aspx

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