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What is Osteogenesis imperfecta?

What is Osteogenesis imperfecta?

  • Osteogenesis imperfecta: Weak bones ("brittle bone disease") and loose joints.
  • Osteogenesis imperfecta: Autosomal dominant COLLAGEN DISEASES resulting from defective biosynthesis of COLLAGEN TYPE I and characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. There are four major types, I-IV.
    Source - Diseases Database
  • Osteogenesis imperfecta: autosomal dominant disorder of connective tissue characterized by brittle bones that fracture easily.
    Source - WordNet 2.1

Osteogenesis imperfecta is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Osteogenesis imperfecta, or a subtype of Osteogenesis imperfecta, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Osteogenesis imperfecta as a "rare disease".
Source - Orphanet

Osteogenesis imperfecta: Introduction

Types of Osteogenesis imperfecta:

Types of Osteogenesis imperfecta:

Broader types of Osteogenesis imperfecta:

How many people get Osteogenesis imperfecta?

Prevalance of Osteogenesis imperfecta: 6-7 per 100,000 people are affected by osteogenesis imperfecta worldwide, Genetics Home Reference website
Prevalance Rate of Osteogenesis imperfecta: approx 1 in 16,666 or 0.01% or 16,320 people in USA [about data]
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?

Complications of Osteogenesis imperfecta: see complications of Osteogenesis imperfecta
Prognosis of Osteogenesis imperfecta: There are four major types of OI ranging in severity from mild to lethal. (Source: excerpt from Questions and Answers about Heritable Disorders of Connective Tissue: NIAMS)

What causes Osteogenesis imperfecta?

Causes of Osteogenesis imperfecta: see causes of 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. (Source: excerpt from Questions and Answers about Heritable Disorders of Connective Tissue: NIAMS)

What are the symptoms of Osteogenesis imperfecta?

Symptoms of Osteogenesis imperfecta: see symptoms of Osteogenesis imperfecta

Complications of Osteogenesis imperfecta: see complications of Osteogenesis imperfecta

Can anyone else get Osteogenesis imperfecta?

Contagion of genetic conditions: generally not; see details in contagion of genetic diseases.
Inheritance: see inheritance of Osteogenesis imperfecta

Inheritance of genetic conditions: see details in inheritance of genetic diseases.

Osteogenesis imperfecta: Testing

Diagnostic testing: see tests for Osteogenesis imperfecta.

Misdiagnosis: see misdiagnosis and Osteogenesis imperfecta.

How is it treated?

Treatments for Osteogenesis imperfecta: see treatments for Osteogenesis imperfecta
Research for Osteogenesis imperfecta: see research for Osteogenesis imperfecta

Organs Affected by Osteogenesis imperfecta:

Organs and body systems related to Osteogenesis imperfecta include:

Name and Aliases of Osteogenesis imperfecta

Main name of condition: Osteogenesis imperfecta

Class of Condition for Osteogenesis imperfecta: genetic

Other names or spellings for Osteogenesis imperfecta:

OI, brittle bone disease

Brittle bone disease Source - Diseases Database

OI, Brittle bone disease, Brittle bone disease, OI
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Research the causes of these diseases that are similar to, or related to, Osteogenesis imperfecta:



Footnotes:
1. Pathophysiology of Disease, Stephen J. McPhee, Vishwanash R. Lingappa, Willim F. Ganong, Jack D. Lang, Prentice Hall, 1995

 » Next page: Online Medical Textbooks for Osteogenesis imperfecta

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