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Glossary for Blue sclera as seen is osteogenesis imperfecta

  • Alkaptonuria: A rare disorder where the abnormal accumulation of a particular acid (homogentisic acid) in the body causes connective tissue and bone damage. This damage gives tissues a dark or bluish discoloration.
  • Diamond-Blackfan anemia: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. The severity of symptoms is variable but most cases are serious.
  • Ehlers-Danlos syndrome: A group of inherited connective tissue disorders primarily involving the joints and skin. There are 11 disorders in the group.
  • Eye and vision conditions: Medical conditions affecting the eyes or the vision systems.
  • Head Conditions: Conditions that affect the head
  • Hypophosphatasia: A rare genetic disorder characterized by short limbs, dwarfism and general lack of bone calcification.
  • Juvenile Paget disease: A rare genetic bone disorder involving abnormal loss of bone mineralization and remineralization, broadened bone shafts and high levels of alkaline phosphatase in the blood. Some juvenile cases are relatively mild.
  • Osteogenesis imperfecta: Weak bones ("brittle bone disease") and loose joints

 

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