About this topic

Osteogenesis imperfecta is also called OI or brittle bone disease. OI is present at birth. With this condition, bones can break very easily and, sometimes, without any obvious cause. Even though bones break easily, they can still heal at a normal rate. Because there is a defect in a gene, the bones are not as strong as normal. A person with mild OI may only have a few bone breaks in a lifetime. A person with a more severe type can have hundreds of them. The number of bone breaks often becomes fewer in adulthood. There are different types of OI. The most common types are:

• Type I:

  • Mild OI and the most common form of this disease. The bones are weak and teeth problems are common. People with this type of OI often have a blue or gray tint to the white part of their eyes. They most often have a normal lifespan.

• Type II:

  • Most severe form of OI. Bones may break even before a baby is born. Death often happens by age 1.

• Type III:

  • This is also a severe form of OI and a baby may be born with broken bones. There are often many breaks and very bad bone deformities because the bones are so weak. People with this type of OI often have a blue or gray tint to the white part of the eyes. They may be shorter than normal and end up in a wheelchair. Problems with teeth and breathing are common and lifespan is often shorter.

• Type IV:

  • Moderately severe disease with bones that break easily. People with this type of OI are often shorter and have mild bone deformities. The white part of the eyes is normal. They may have teeth problems. They may need crutches or braces to walk.

The severity and outlook of OI depend on what type of OI a person has. There is no cure for this problem. The goal of treatment is to prevent more bone breaks and problems.

What are the causes?

OI is caused by a flaw in a gene. It changes how your bones are made. Most often, this gene is passed down from a parent to a child. If one parent has this gene, there is a 50% chance of a baby having this problem. Sometimes, there is no family history of this disease.

What can make this more likely to happen?

You are more likely to have this problem if you have a parent with OI.

What are the main signs?

• Bones that break easily or are deformed, like bowed legs or arms, hunched posture, scoliosis

• Short in height

• Blue tint to the eyeballs

• Triangle-shaped face

• Hearing problems

• Loose joints

• Flat feet

• Poor teeth

• Breathing problems

How does the doctor diagnose this health problem?

The doctor will do an exam of your child. The doctor will look at the eyes to check for a blue or gray tint and also look at the teeth. The doctor may order:

• X-rays

• Ultrasound

• Skin biopsy

• Genetic testing

How does the doctor treat this health problem?

There is no cure for this problem. The goal of treatment is to prevent more bone breaks and problems.

• Low impact exercise such as swimming

• Gentle weight-bearing exercise such as walking

• Braces, splints, or casts

• Crutches, walker, or wheelchair

• Physical therapy (PT)

• Surgery to fix broken bones, fix deformity, prevent bone breaks in weak bones

• Support groups

What drugs may be needed?

The doctor may order drugs to:

• Increase bone strength and density

What problems could happen?

• Disability

• Long-lasting deformity

• Breathing problems

• Hearing loss

• Spinal cord or brain stem problems

What can be done to prevent this health problem?

Genetic counseling may help to learn the risk of this problem if there is a family history.

Helpful tips

• Do not pick up your child under the armpits. Instead, put one hand between the legs to support the buttocks and the other hand on the back of the shoulders, neck, and head.

• Gently lift up the legs by the ankles to change a diaper.

• Never pull on your child’s arms or legs.

• Use padding or foam in car seats and under harnesses.

• Do not use umbrella type strollers.

• Keep a letter from your child's doctor or medical records with you at all times. This may prevent suspicions of child abuse by healthcare providers.

• Avoid alcohol, smoking, and taking steroids. This can lower bone density and put you at risk for more bone breaks.