Brittle bone disease is a disorder that results in fragile bones that break easily. It’s present at birth and usually develops in children who have a family history of the disease.

The disease is often referred to as osteogenesis imperfecta (OI), which means “imperfectly formed bone.”

Brittle bone disease can range from mild to severe. Most cases are mild, resulting in few bone fractures. However, the severe forms of the disease can cause:

• hearing loss
• heart failure
• spinal cord problems
• permanent deformities

OI can sometimes be life-threatening if it occurs in babies either before or shortly after birth. Approximatelyone person in 20,000will develop brittle bone disease. It occurs equally among males and females and among ethnic groups.

What Causes Brittle Bone Disease?

Brittle bone disease is caused by a defect, or flaw, in the gene that produces type 1 collagen, a protein used to create bone. The defective…