Osteogenesis imperfecta

Description

A group of conditions passed through families in which bones break easily, sometimes for no known reason.

Overview

Osteogenesis imperfecta is caused by changes to genes that affect how the body makes a protein called collagen that is needed for bone strength. There are a number of types of the condition, ranging from mild to severe.

Symptoms

Symptoms depend on the condition type. Common symptoms include bowing of long bones, short height, a triangular face shape, breathing problems, hearing loss and brittle teeth. Symptoms can be mild, with only a few broken bones in a lifetime. Some people have hundreds of broken bones in their lifetime, including in the womb. Some babies die at birth or shortly after birth.

Treatments

Treatments include bone-strengthening medicines and occupational and physical therapy. Many children have orthopedic surgery to place metal rods into bones to make the bones stronger.