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.
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 OI
- Most 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 OI
- An 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 pain
- Hearing loss
- Whites of the eyes may have a blue, purple, or gray tint
- Bone deformity
- Short height
- Loose joints and muscle weakness
- Triangular face
- Brittle teeth
- Breathing problems
- Bruising 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:
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:
There is presently no cure for OI. In general, treatment is directed toward:
- Preventing health problems
- Improving independence and mobility
- Developing bone and muscle strength
Some supportive treatment options include:
- Medication called bisphosphonates—to increase bone mineral density
- Physical therapy—for range of motion and muscular strength exercises
- Surgical implant of rods into long bones—to provide strength and prevent or correct deformities
- Monitoring for fractures or scoliosis
- Assistive devices like braces, canes, or wheelchairs—may be needed with certain types of OI
- Dental 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 activity
- Good nutrition
- Not smoking
- Avoiding 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.
- Reviewer: Michael Woods, MD
- Review Date: 05/2018 -
- Update Date: 06/22/2015 -