Osteogenesis imperfecta (OI) is a genetic problem
that affects the bones. The most common effect is weakened bones that break easily. There are at least 8 types of OI. Some are mild with no obvious signs, while others are more severe.
The Bones of the Body
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OI is caused by a problem in:
The gene that controls the making of collagen—an important element in bones and connective tissues:
Most common cause of OIMost often caused by a random change in the gene; not often associated with a family history
The gene that controls proteins in cartilage: Less common cause of OIAn inherited genetic change from parents; there is often a family history
A family history of OI may increase your risk of certain types of the disease. There are no known risk factors for most types of OI.
In the 4 most common types of OI, symptoms may include: Bone painHearing lossWhites of the eyes may have a blue, purple, or gray tintBone deformityShort heightLoose joints and muscle weaknessTriangular faceBrittle teethBreathing problemsBruising easily
You will be asked about your symptoms and medical history. A physical exam will be done. OI may be diagnosed based on your history of fractures or appearance alone.
Your bones may need to be examined. This can be done with: X-raysBone mineral density testBone biopsy
Genetic testing may be done. This can help determine the type of OI. Genetic testing can be done through a blood, saliva, or skin biopsy.
If you are pregnant and have a family history of OI your doctor may do: Ultrasound—to look for skeletal problems before birth, which will only show in certain types of OI
Chorionic villus sampling
(CVS)—for genetic testing
There is presently no cure for OI. In general, treatment is directed toward: Preventing health problemsImproving independence and mobilityDeveloping bone and muscle strength
Some supportive treatment options include: Medication called bisphosphonates—to increase bone mineral densityPhysical therapy—for range of motion and muscular strength exercisesSurgical implant of rods into long bones—to provide strength and prevent or correct deformities
Monitoring for fractures or
scoliosisAssistive devices like
canes, or wheelchairs—may be needed with certain types of OIDental procedures
Problems related to OI, such as fractures, can be reduced or prevented by a healthy lifestyle. This should include: Exercise—swimming is often an ideal and safe activityGood nutritionNot smokingAvoiding excessive amounts of alcohol
OI is caused by a genetic defect. There is no known way to prevent it.
Genetic counseling may be useful if you are planning to have a child and you have OI or a family history of OI. The counselor can let you know the risk your child may have of developing OI.
Chevrel G, Meunier PJ. Osteogenesis imperfecta: lifelong management is imperative and feasible.
Joint Bone Spine. 2001;68:125-129.
Types of OI. Osteogenesis Imperfecta Foundation website. Available at:
http://www.oif.org/site/PageServer?pagename=AOI_Types. Accessed June 16, 2016.
Last reviewed June 2016 by Michael Woods, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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