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Glossary for Jansen type metaphyseal chondrodysplasia

  • 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).
  • Failure To Thrive: Slow growth or inadequate weight gain of an infant or child.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Head Conditions: Conditions that affect the head
  • High arched palate: A condition where the roof of the mouth is higher in the mouth than normal.
  • Hypophosphatemia: Low blood phosphate levels. Causes include malnourishment, chronic alcoholism excessive carbohydrate consumption, malabsorption, phosphaturia, liver failure, respiratory alkalosis and certain genetic disorders.
  • Kyphosis: Outward curvature of the spine at the back causing hunching or Dowager's hump
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
  • Nephrocalcinosis: A condition characterized by calcium salt deposits in the kidneys which may affect it's ability to function. The condition refers to a generally increased level of calcium in the kidneys rather than actual localized deposits such as occurs in kidney stones. It may be caused by such things as high blood calcium levels and tuberculosis. The condition often goes unnoticed until kidney or urinary tract stones form.
  • Prominent eyes: Prominent eyes are unusually large or protruding eyes.
  • Rheumatic conditions: Any condition that affects ones joints
  • Scoliosis: Sideways curvature of the spine
  • Small face: Small face is a face that is unusually little.

 

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