Osteogenesis imperfecta (OI) is a bone disease. People with OI have fragile bones that break easily, often with no apparent cause. Another name for OI is brittle bone disease.
What are the symptoms of osteogenesis imperfecta?
Everyone who has osteogenesis imperfecta has brittle (weak) bones. Most people with the condition have broken bones over their lifetime. In severe forms, a person with OI may have hundreds of broken bones, even before birth.
Other osteogenesis imperfecta symptoms can include:
Blue sclerae (bluish color of the whites of the eyes).
How is osteogenesis imperfecta (OI) treated?
The goal of treatment is to increase bone strength and help people with OI live more independently. Osteogenesis imperfecta treatment may include:
Occupational therapy (OT): OT addresses fine motor skills, such as buttoning your shirt or tying your shoes.
Physical therapy (PT): Physical therapists prescribe exercises that increase strength, flexibility and range of motion.
Assistive devices: Aids such as walkers, canes or crutches can improve mobility.
Oral and dental care: OI can lead to tooth chipping, color changes or decay. People with the condition need regular dental checkups.
Medications: Depending on your symptoms, your provider may prescribe medicines that slow bone loss or treat pain.
What is the treatment for broken bones?
If you or your child breaks a bone, an orthopedic specialist (bone specialist) can treat it. Treatment may include:
Braces, splints or casts: An orthopedic specialist may use protective devices to stabilize broken bones during healing or after surgery.
Surgery: Your provider may operate to correct curved or misshapen bones. Rodding surgery is a common treatment for children with OI. It uses a rod to prevent bones from breaking. The rods also support bones. Some types can be adjusted as your child grows.
Is there a cure for brittle bone disease?
There is no cure for osteogenesis imperfecta. Depending on the type of OI, treatment plans focus on managing symptoms, increasing bone mass and improving strength.
What providers treat osteogenesis imperfecta?
People with OI need ongoing care throughout their lives. Your medical team might include:
Primary care provider or pediatrician.
Audiologists to diagnose and treat hearing problems and prescribe hearing aids .
Dental providers, including orthodontists and oral-maxillofacial surgeons.
Occupational therapists.
Orthopaedists, specialized doctors who diagnose and treat bone and joint problems and bone breaks, including performing surgery.
Physical therapists.
How is osteogenesis imperfecta (OI) diagnosed?
Before birth, healthcare providers may detect possible OI through genetic testing. If one or both parents is a carrier for OI, a genetic counselor can guide parents about OI risks.
To confirm an OI diagnosis after a baby is born, healthcare providers may use:
Blood tests to check for gene mutations that indicate brittle bone disease.
Bone density tests, using low-dose X-rays across the body to measure mineral levels in bones.
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