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)
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