Osteogenesis Imperfecta

Osteogenesis imperfecta (OI), also known as brittle-bone disease, is an inherited disorder characterized by bones that break easily without a specific cause. An estimated 20,000 to 50,000 people in the United States have this disease, which can affect men and women of all races.

OI is believed to be due to a genetic defect that causes imperfectly formed or an inadequate amount of bone collagen, a protein found in the connective tissue.

Types of OI

There are four types of the disorder, with varying degrees of severity in the symptoms. Type I, mild cases, can usually be traced through the family.

Its symptoms can include:

• Bones prone to fracture, mostly before puberty, but sometimes in post-menopausal women
• Blue sclera, the normally white area of the eye ball
• Dental problems and brittle teeth
• Hearing loss beginning in the early 20s and 30s
• Near normal stature or slightly shorter
• Tendency toward spinal curvatures
• Triangular face

Type II is the most severe form and it affects newborns. It is sometimes fatal, although patients have lived to adulthood with it. Type II includes severe bone deformities with fractures and short stature.

Type III and Type IV have similar symptoms that are less severe than Type II.

Treatment Options

UT Southwestern Medical Center is a leader in the research and treatment of genetic disorders. We use a multidisciplinary approach to treat the individual conditions caused by the disorders. Our adult and pediatric programs offer consultation, evaluation, counseling, and treatment for inherited diseases and known or suspected genetic conditions.

While there’s no cure for Osteogenesis imperfecta, our physicians work with our patients to prevent deformities and fractures and to help them function as independently as possible.

Treatments for preventing or correcting symptoms may include:

• Assistive devices, such as wheelchairs, braces, and other custom-made equipment
• Care of fractures
• Dental procedures
• Physical therapy
• Rodding, which is the insertion of a metal bar the length of a long bone to stabilize it and prevent deformity
• Surgery

Management of OI

Management includes focusing on preventing or minimizing deformities and maximizing your functional ability at home and in the community. Both nonsurgical or surgical management options are available.

Nonsurgical interventions may include one or more of the following:

• Braces and splints to prevent deformity and promote support or protection
• Medications
• Physical therapy
• Positioning aids to help sit, lie, or stand
• Psychological counseling

Surgical interventions may help manage these conditions:

• Bowing of bone
• Fractures
• Heart problems
• Scoliosis, which is a lateral or sideways curvature and rotation of the backbones, giving the appearance that the person is leaning to one side

Surgery may also be considered to maintain the ability to sit or stand.