Everything you need to know about Osteogenesis Imperfecta

Osteogenesis Imperfecta, more commonly known as brittle bone disease, is an inherited disorder characterized by fragile bones that break easily.

OI is caused by defects in or related to a protein called the type 1 collagen. Collagen is an essential building block of the body. The body uses type 1 collagen to make bones strong and to bend tendons, ligaments, teeth, and the whites of the eyes.

This condition can be mild with only a few fractures during a persons lifetime. In more severe cases, it can involve hundreds of fractures that occur without any apparent cause. Symptoms include, pain in the bones, bone fracture, blueish tinge of the sclera (the white part of the eye), bone tissue formation, bow legs, bruising, callus (thick layers of skin), enlarged head, hearing loss, physical deformity, scoliosis (spine deformation), short stature, or stiffness.

In more severe forms of OI, there may be bone deformities, poor lung development and lung problems, a barrel-shaped chest (when the chest is rounded or puffed up), and poor muscle development in the arms and legs.

Yes! Treatments include devices such as a splint and orthopedic cast. Medications include, percutaneous vertebroplasty (a newer technique in which a medical grade cement is injected though a needle into a painful fractured vertebral body). Surgeries include orthognathic surgery (surgery that helps align your upper jaw (maxilla) and lower jaw (mandible))and distraction osteogenesis (process of making longer bones out of shorter ones).