Clinical Definition

Osteogenesis imperfecta, also known as brittle bone disease, is a genetic disorder characterized by bones that break easily and often with no cause. People with the disorder either lack enough collagen or have poor quality collagen, the major protein in the body’s connective tissue. The features of osteogenesis imperfecta vary among individuals, from the mildest form, Type I, to the most severe, Type II, which is frequently lethal at birth due to respiratory problems.

In Our Own Words

Brittle bone disease, known medically as osteogenesis imperfecta, is an inherited deficiency in making collagen, a major protein that helps build strong bones and ligaments. Almost all people with this condition have osteoporosis because they don’t develop enough bone mass at any age. It can come to medical attention because of fractures and/or genetic tests. Severity varies from just a few fractures to 100s of fractures, or even death in early childhood. Aside from brittle bones, there may be respiratory problems; bone defects, a curved spine, muscles that are too relaxed, and the whites of the eyes can have a blue or gray tint. The condition can also affect a child’s stature, hearing, skin, blood vessels and muscle tone (hypotonia).  There is no cure, so treatments are designed to prevent or treat the specific symptoms.