Osteogenesis imperfecta (OI) is an inherited defect in the body’s production of collagen.
Collagen is a substance found in ligaments, tendons, skin, cartilage, bones and blood vessels. When the body does not produce it normally, broken bones, brittle teeth, bone loss and pain can result.
There are several types of osteogenesis imperfecta, also known as brittle bone disease. Depending on the type, symptoms range from mild to severe. In addition, even when a group of patients with OI have similar symptoms, their problems may be caused by different genes.
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Osteogenesis imperfecta symptoms
Everyone with OI has brittle bones. Some other symptoms of OI may include the following:
- Fractures starting at an early age, often with little or no trauma
- Short stature
- Whites of the eye (sclera) look blue
- Brittle teeth
- Progressive hearing loss
- Hypermobile (loose) joints
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How can I get my child help for osteogenesis imperfecta?
Diagnosis
There is no one test to tell if your child has osteogenesis imperfecta. To diagnose OI, doctors consider the following:
- Family history
- History of fractures
- Whether your child has physical characteristics typical of people with OI
- X-ray features
- Skin collagen tests
Treatment
There is no cure for OI. The goal of treatment is to manage symptoms.
People with severe forms of osteogenesis imperfecta are usually diagnosed early in life. If your child has a milder case, your child may not get a diagnosis until they are older. If your child has any symptoms of OI, ask your child's pediatrician if he or she recommends a consultation with a specialist.
Many specialists are involved in the care of people with OI. These may include any of the following:
- Rheumatologists
- Endocrinologists
- Orthopedic surgeons
- Medical rehabilitation specialists and physical therapists
- Audiologists
- Dentists
- Genetic counselors
If your child has OI, care will focus on treating broken bones, brittle teeth, bone loss, musculoskeletal pain and hearing problems. Research is under way to see if there are medications that can help prevent fractures.
Lifestyle
If your child has osteogenesis imperfecta, the following things can help your child maintain a healthy lifestyle:
- Keep active with low-impact exercise (swimming, water aerobics, walking, elliptical trainers)
- Prevent falls by keeping doorways and walkways clear; avoid loose rugs or multiple cords on the floor
- Stay at a healthy weight
- Eat a balanced, healthy diet
- Avoid smoking and heavy alcohol use