Osteogenesis Imperfecta

What is osteogenesis imperfecta?

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

What causes osteogenesis imperfecta (OI)?

The cause of osteogenesis imperfecta (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.

What are the symptoms of osteogenesis imperfecta (OI)?

Symptoms of OI include:

• Easily fractured bones
• Bone deformities, such as bowing ofthe legs, due to multiple fractures and poor fracture healing
• Discoloration of the sclera of the eye; This normally white tissue may be blue or gray in people with OI.
• A barrel-shaped chest
• A curved spine
• A triangular-shaped face
• Loose joints
• Muscle weakness
• Hearing loss in early adulthood
• Brittle teeth

The symptoms of OI may resemble other bone problems or medical conditions. Always consult your child's physician for a diagnosis.

How is osteogenesis imperfecta (OI) diagnosed?

Because this is a genetic disorder, your child's doctor will take a careful family history in addition to a complete medical history and do a physical examination. Diagnostic procedures for OI may include a skin biopsy to evaluate the amount and structure of collagen. However, this test is complicated and not many qualified facilities are available to perform the procedure. It is not unusual for results of the biopsy to take up to six months.

Additional diagnostic tests include:

• X-ray--A diagnostic test which uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film
• An examination of the ear, nose, and throat (to detect hearing loss)

Treatment for osteogenesis imperfecta (OI):

Specific treatment for osteogenesis imperfecta (OI) will be determined by your child's physician based on the following:

• Your child's age, overall health, and medical history
• The extent of the disease
• The type of condition
• Your child's 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 the following:

• 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 child's functional ability at home and in the community. Management of OI is either non-surgical or surgical. Nonsurgical interventions may include one or more of the following:

• Regular exercise and a healthy diet. These are recommended for proper weight maintenance.
• Positioning aids. These are used to help the child sit, lie, or stand.
• Braces and splints. These are used to prevent deformity and promote support or protection.
• Medications
• Avoidance of smoking
• Avoidance of steroid medications
• Psychological counseling

Surgical interventions may be considered to manage the following conditions:

• Fractures
• Bowing of bone
• Scoliosis--a lateral, or sideways curvature and rotation of the back bones (vertebrae), giving the appearance that the person is leaning to one side.
• Heart problems

Surgery may also be considered to maintain a child's ability to sit or stand.

Long-term outlook for a child with osteogenesis imperfecta (OI):

Osteogenesis imperfecta (OI) is a progressive condition that needs life-long management to prevent deformity and complications.

The interdisciplinary healthcare team helps the family to improve the child's functional outcomes and to provide support to the parents as they learn to care for their child's needs.

The Osteogenesis Imperfecta Society can be an important resource for parents of children with OI.

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