Basic Summary for Osteogenesis imperfecta


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Main name of condition: Osteogenesis imperfecta
Other names or spellings: OI, brittle bone disease


What is Osteogenesis imperfecta?
  Brief description of Osteogenesis imperfecta: Weak bones ("brittle bone disease") and loose joints
  Parent types of Osteogenesis imperfecta: Bone conditions, Connective tissue disorders, Heritable Disorders of Connective Tissue, Genetic Disease
  Organs Affected by Osteogenesis imperfecta: connective, bone
  Types of Osteogenesis imperfecta: Osteogenesis imperfecta congenita, Osteogenesis imperfecta tarda
How many people get Osteogenesis imperfecta?
  Incidence (annual) of Osteogenesis imperfecta: about 1 in 10,0001.
  Incidence Rate of Osteogenesis imperfecta: approx 1 in 10,000 or 0.01% or 27,200 people in USA [about data]
How serious is Osteogenesis imperfecta?
  Prognosis of Osteogenesis imperfecta: There are four major types of OI ranging in severity from mild to lethal. 2
  Complications of Osteogenesis imperfecta: see complications of Osteogenesis imperfecta
What causes Osteogenesis imperfecta?
  Causes of Osteogenesis imperfecta: Also known as "brittle bone disease," this disorder arises from mutations in the two genes that make type I collagen, a protein important to bones and skin. These mutations cause the body to make either too little or poor-quality type I collagen. 2
  Class of Condition for Osteogenesis imperfecta: genetic
  Causes of Osteogenesis imperfecta: see causes of Osteogenesis imperfecta
What are the symptoms of Osteogenesis imperfecta?
  Symptoms of Osteogenesis imperfecta: see symptoms of Osteogenesis imperfecta
Can anyone else get Osteogenesis imperfecta?
  Contagion of genetic conditions: generally not; see details in contagion of genetic diseases.
  Inheritance of genetic conditions: see details in inheritance of genetic diseases.
How is it treated?
  Treatments for Osteogenesis imperfecta: see treatments for Osteogenesis imperfecta
  Research for Osteogenesis imperfecta: see research for Osteogenesis imperfecta

Footnotes:
1. Pathophysiology of Disease, Stephen J. McPhee, Vishwanash R. Lingappa, Willim F. Ganong, Jack D. Lang, Prentice Hall, 1995
2. excerpt from Questions and Answers about Heritable Disorders of Connective Tissue: NIAMS

Last revision: June 5, 2003

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