Basic Summary for Osteogenesis imperfecta


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

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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