Osteogenesis Imperfecta: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Osteogenesis Imperfecta?
A clinical geneticist, a doctor who treats inherited conditions, and an orthopedist, a doctor who treats bone and joint disease, are often part of the care team for osteogenesis imperfecta. A pediatrician (a children's doctor) or primary care doctor helps with everyday care. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is osteogenesis imperfecta?
Osteogenesis imperfecta (OI) is a genetic disease in which bones break easily, often with no obvious cause or with only a minor injury. It is also known as brittle bone disease. Symptoms can range from mild, with only a few fractures, to severe, with many medical complications.
There are at least 19 recognized forms of OI. Type I is the mildest and most common form. Type II is the most severe form.
Symptoms
All people with OI have weak, brittle bones. Some people have only a few broken bones in their lifetime. Others may have hundreds, including broken bones before birth. Other symptoms vary from mild to severe and from person to person. They include:
- Skin that bruises easily.
- Loose joints and weak muscles.
- Whites of the eyes, called the sclera, that look blue, purple, or gray.
- A curved spine, or spine bones that collapse or are squeezed together.
- Teeth that are brittle, misshapen, or discolored, or that are not lined up well.
In milder forms, about half of people develop hearing loss in adulthood. In the most severe form, type II, a small, fragile rib cage and underdeveloped lungs can cause life-threatening breathing problems, and babies can die shortly after birth.
Causes and who gets it
A change in a gene causes OI. For most people, the change is in genes that carry the instructions for making type I collagen. Type I collagen is a material in bones that helps make them strong. The body makes too little collagen or makes it incorrectly, which leads to weak bones that break more easily.
Most people with OI have a dominant form. This means they carry one normal copy and one copy of the gene that causes OI. A person with a dominant gene change has a 50-percent chance (1 in 2) of passing it on to each child. In other forms, a child has to inherit a changed gene from both parents, who may not have OI themselves.
There is no way to prevent the disease. Genetic counselors can help families understand the genetics of OI.
How doctors diagnose it
Doctors may diagnose OI by asking about family and medical history, doing a physical exam, and ordering x-rays and bone density tests. A genetic blood test can find the gene change and show which type of OI a person has. A negative genetic test does not rule out OI.
Treatment
There is no cure for OI. Treatment aims to prevent or control symptoms, increase bone mass and muscle strength, and help a person be as independent as possible. People with OI usually need a health care team of several doctors and other providers. Treatment can include:
- Physical or occupational therapy to build muscle strength, improve joint movement, and learn how to avoid injuries. Therapists and doctors may also suggest swimming.
- Medicines. No medicines are approved by the U.S. Food and Drug Administration (FDA) to treat OI. A doctor may suggest a therapy approved for a related condition, such as bone strengthening medicines that can help slow bone loss and reduce how often broken bones happen.
- Care for broken bones. An orthopedic specialist can treat broken bones with a cast, splint, or brace, and sometimes surgery is needed.
- Rodding surgery, in which a metal rod is placed into a bone to support it and keep it from breaking.
- Hearing tests starting in childhood and repeated through life. Treatment can include hearing aids, which are small electronic devices that make sound louder.
Daily habits help too. Follow a nutritious diet with enough calcium and vitamin D, and do not smoke, because smoking can also weaken bones.
When to see a doctor
See a doctor if bones break easily, especially with no obvious cause or only a minor injury. Breathing problems can be life-threatening in the most severe form of OI. If someone with OI has trouble breathing, call 911 or go to the emergency room.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. A direct primary care doctor can help coordinate the team of specialists and check in between visits.
Common questions
Is osteogenesis imperfecta the same as brittle bone disease?
Yes. Brittle bone disease is another name for OI.
Can osteogenesis imperfecta be cured?
No. There is no cure for OI. Treatment can help prevent or control symptoms and help a person be as independent as possible.
Is osteogenesis imperfecta inherited?
Yes, it is a genetic disease. Most people with OI inherit the gene change from one parent, or the change happens for the first time in the person.
Can people with osteogenesis imperfecta exercise?
Yes, with guidance. Regular physical activity can help strengthen muscles and bones. Swimming and water therapy are common choices because exercising in water has little risk for causing broken bones.
Sources
- NIAMS - Osteogenesis Imperfecta Symptoms, Types, & Causes
- NIAMS - Osteogenesis Imperfecta: Diagnosis, Treatment, and Steps to Take
- MedlinePlus Genetics - Osteogenesis imperfecta
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
