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Glossary for Metaphyseal dysplasia Pyle type

  • Bone conditions: Conditions that affect the bones
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital conditions -- physical defects: Congenital (birth) defects causing a physical structure defect (rather than metabolic).
  • Gaucher Disease: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
  • Osteoporosis: Bone thinning and weakening from bone calcium depletion.
  • Pyle disease: A rare genetic disorder characterized by numerous bone abnormalities as well as loss of vision and hearing.

 

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