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.
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.
Symptoms of OI include:
The symptoms of OI may resemble other bone problems or medical conditions. Always consult your child's physician for a diagnosis.
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:
Specific treatment for osteogenesis imperfecta (OI) will be determined by your child's physician based on the following:
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:
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:
Surgical interventions may be considered to manage the following conditions:
Surgery may also be considered to maintain a child's ability to sit or stand.
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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