Osteogenesis Imperfecta in Children
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 U.S. have this disease. OI can affect males and females of all races.
What causes osteogenesis imperfecta?
In most cases, the cause of OI is 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?
The following are the most common symptoms for OI. However, each child may experience symptoms differently.
There are many different types of OI, which are defined based upon genetic defect and clinical symptoms, The most common types are listed below.
According to the Osteoporosis and Related Bone Diseases National Resource Center, part of the National Institutes of Health, the types of OI and their symptoms include:
Type I |
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Type II |
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Type III |
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Type IV |
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Type V |
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Type VI |
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Type VII |
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Type VIII |
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The symptoms of OI may resemble other bone problems or medical conditions. Always consult your child's health care provider for a diagnosis.
How is osteogenesis imperfecta 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. In most cases, the genetic defect is identified with a blood test. In some cases a skin biopsy may be necessary, and sometimes no genetic defect can be found.
Additional diagnostic tests include:
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X-ray. A diagnostic test that uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film.
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DXA scan. A diagnostic procedure to determine bone mineral density.
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Audiometry. This is a hearing test using electronic tones.
Treatment for osteogenesis imperfecta
Specific treatment for OI will be determined by the severity of your child's disease.
To date, no known treatment, medicine, or surgery will cure 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:
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All patients will receive nutritional counseling to ensure they are getting enough calcium and vitamin D in their diet
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In most cases, patients will receive physical therapy to improve muscle strength and bone density
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All patients will see an orthopaedic surgeon to care for fractures
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Some patients with severe disease will have rods inserted into long bones to strengthen and prevent deformity
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Some patients will need surgery to repair scoliosis (spinal curvature)
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Medical treatment with bisphosphonates are the standard of care for patients with moderate or severe disease
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Dental procedures
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Assistive devices such as wheelchairs, braces,and other custom-made equipment
Management of osteogenesis imperfecta
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 nonsurgical or surgical. Nonsurgical interventions may include one or more of the following:
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Regular exercise and a healthy diet. These are recommended for proper weight maintenance.
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Positioning aids. These are used to help the child sit, lie, or stand.
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Braces and splints. These are used to prevent deformity and promote support or protection.
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Medications
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Avoidance of smoking
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Psychological counseling
Surgical interventions may be considered to manage the following conditions:
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Fractures
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Bowing of bone
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Scoliosis, a condition that causes the back bones to curve
Long-term outlook for a child with osteogenesis imperfecta
OI is a progressive condition that needs life-long management to prevent deformity and complications.
The interdisciplinary health care 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.
Medical Reviewers:
- Bass, Pat F. III, MD, MPH
- David Weber, MD, MSCE
- MMI board-certified, academically affiliated clinician
- MMI board-certified, academically affiliated clinician,