Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) is an

inherited

 bone disorder that is present at birth. It is also known as brittle bone disease. A child born with OI may have soft bones that

break

 easily, bones that are not formed normally, and other problems. Signs and symptoms may range from mild to severe. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.
Preventing bone fractures is key for people with OI. They can lower their risk of broken bones by avoiding activities that put them at risk for a fall or collision or put too much stress on the bones.
Symptoms

Easily get bone fractures

common

Bone deformity

common

Short stature

common

Bluish coloration of the whites of the eyes

common

Difficulty hearing

common

Teeth anomaly

common

Muscle pain

or Joint pain

common

Stretchy skin

or Flexible ligaments

common

Unexplained skin injury

common

Twisted spine

Risk factors

Family history of osteogenesis imperfecta

Treatment
To date, there is no known treatment, medicine, or surgery that will cure osteogenesis imperfecta (OI). The goal of treatment is to prevent deformities and fractures and allow the child to function as independently as possible.
Recommended specialist

If you have Osteogenesis Imperfecta, then a visit to an orthopedic surgeon is recommended.

Contact an

Orthopedic surgeon

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