Osteogenesis imperfecta

Overview Osteogenesis imperfecta, also known as brittle bone disease, is a genetic disorder that causes bones to break easily without cause. The condition affects the body's ability to produce collagen, a protein in the body's connective tissue. There are four types of osteogenesis imperfecta, which vary greatly in how severe they are: • Type I is the most common and mildest form • Type II is the most severe. It frequently causes death at or near birth. It affects about 10% of all persons with osteogenesis imperfecta. • Type III causes many bone fractures, including ones that occur before birth. This type affects about 20% of all persons with osteogenesis imperfecta. • Type IV is between Types I and III in severity. An estimated 20,000 to 50,000 people in the United States have osteogenesis imperfecta. Symptoms The symptoms of osteogenesis imperfecta vary a great deal, even among people with the same type and within the same family. Not all of the signs show up in every case. In general, the symptoms of osteogenesis imperfecta include: • A tendency toward spinal curvature • Abnormalities in collagen ranging from the body producing too little to structural problems • Bones that break easily (most before puberty) • Brittle teeth • Changes in the sclera (whites of the eyes), which may have a blue, purple or gray tint • Height that ranges from shorter than average to normal, depending on the form of the disease • Loose joints and muscle weakness • Loss of hearing beginning in ...

Treatment for Osteogenesis Imperfecta Specific treatment for osteogenesis imperfecta will be determined by your physician based on: • Your age, overall health, and medical history • Extent of the disease • Your tolerance for specific medications, procedures, or therapies • Expectations for the course of the disease • Your opinion or preference 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. Treatments for preventing or correcting symptoms may include: • Care of fractures • Surgery • Rodding - a procedure to insert a metal bar the length of a long bone to stabilize it and prevent deformity. • Dental procedures • Physical therapy • Assistive devices, such as wheelchairs, braces, and other custom-made equipment Management of osteogenesis imperfecta (OI) Management of the disease includes focusing on preventing or minimizing deformities, and maximizing the individual's functional ability at home and in the community. Management of OI is either non-surgical or surgical. Non-surgical interventions may include one or more of the following: • Physical therapy • Positioning aids (to help sit, lie, or stand) • Braces and splints (to prevent deformity and promote support or protection) • Medications • Psychological counseling Surgical interventions may be considered to manage the following conditions: • Fra...