Osteogenesis imperfecta (OI) is a genetic bone disease. Babies born with it have bones that break easily, often for seemingly no reason. Babies who have milder forms of OI may live healthy lives into adulthood. OI treatment focuses on managing symptoms and increasing bone strength.
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.
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Experts categorize OI into 19 types. Healthcare providers classify osteogenesis imperfecta as Type I through Type XIX.
The first four osteogenesis imperfecta types are the most common. These include:
Anyone can be born with brittle bone disease. However, you are more likely to have OI if you have a family history of the disease.
Osteogenesis imperfecta is rare. It affects around 1 in every 20,000 people.
Osteogenesis imperfecta (OI) occurs because of a gene mutation (change). This mutation may be sporadic (random) or a baby may inherit the gene from one or both parents.
Some parents are carriers for the gene that causes OI. Being a carrier means you don’t have the disease yourself but can pass it down to your child.
Babies born with OI have a problem with making connective tissue due to a lack of type I collagen. Collagen is mostly found in bones, ligaments and teeth. Collagen helps keep bones strong. As a result of the gene mutation, the body may not make enough collagen, and bones may weaken.
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:
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:
The goal of treatment is to increase bone strength and help people with OI live more independently. Osteogenesis imperfecta treatment may include:
If you or your child breaks a bone, an orthopedic specialist (bone specialist) can treat it. Treatment may include:
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.
People with OI need ongoing care throughout their lives. Your medical team might include:
Because brittle bone disease is a genetic condition, you cannot prevent it. If you or your partner has OI or have a relative with the condition, speak with a genetic counselor. They can advise you about the risks of passing on the condition.
Depending on the OI type, many people can live a high quality of life with osteogenesis. People with OI can improve bone health by:
Life expectancy varies greatly depending on OI type. Babies with Type II often die soon after birth. Children with Type III may live longer, but often only until around age 10. They may also have severe physical deformities.
People with Type IV generally live into adulthood but may have a slightly shortened lifespan. People with Type I generally have a typical lifespan.
You may also want to ask your healthcare provider:
A note from Cleveland Clinic
Osteogenesis imperfecta is a genetic bone disease. People born with the condition have bones that break easily. There are several types of osteogenesis imperfecta. Some types are more severe. Babies born with severe OI often don’t live past a few days or weeks of life. Other OI types are manageable. Babies born with mild types of OI can live healthy lives into adulthood. Osteogenesis imperfecta treatment focuses on increasing bone strength and improving quality of life.
Last reviewed by a Cleveland Clinic medical professional on 05/05/2021.
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