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Glossary for Mucopolysaccharidosis VII

  • Bone changes: Changes to the bones as a symptom
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital metabolic disorders: Congenital (birth) defects affecting any metabolic systems.
  • Cornea/lens symptoms: Symptoms affecting the cornea or lens of the eye
  • Dwarfism: Short stature. There are several types of dwarfism: acromelic (short hand and foot bones), mesomelic (short forearm and lower leg bones) and rhizomelic (short upper arm and leg bones).
  • Dysostosis: Defective bone development. It can result in missing bones, extra bone, shortened bones or other bone abnormalities. Further symptoms depend on the type of abnormality.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Glaucoma: Glaucoma is the term for a diverse group of eye diseases, all of which involve progressive damage to the optic nerve. Glaucoma is usually, but not always, accompanied by high intraocular (internal) fluid pressure. Optic nerve damage produces certain characteristic visual field defects in the individual's peripheral (side), as well as central, vision.
  • Hydrops fetalis: Abnormal accumulation of fluid in the fetus which can be fatal. Excessive fluid leaves the blood and enters the tissues. It can have non-immune and immune (mother's immune system destroys fetal red blood cells).
  • Intellectual impairment: The impairment of ones cognition
  • Kyphosis: Outward curvature of the spine at the back causing hunching or Dowager's hump
  • Liver enlargement: This is where there is an enlargement of the liver
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Mucopolysaccharidoses: A lysosomal storage disorder that is caused by a deficiency of the ability to metabolise glycosaminoglycans
  • Swollen spleen: Swelling or enlargement of the spleen

 

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