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.
The following are the most common symptoms for osteogenesis imperfecta (OI). However, each child may experience symptoms differently. Although symptoms may vary, generally they are used to classify the four forms of OI, each of which represents varying grades of severity of the condition.
According to the Osteoporosis and Related Bone Diseases National Resource Center, part of the National Institutes of Health (NIH), the types of OI and their symptoms include:
The symptoms of OI may resemble other bone problems or medical conditions. Always consult your child's physician for a diagnosis.
In addition to a complete medical history and 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
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 condition
the type of condition
your child's tolerance for specific medications, procedures, or therapies
expectations for the course of the condition
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
rodding (a procedure to insert a metal bar the length of a long bone to stabilize it and prevent deformity)
assistive devices, such as wheelchairs, braces, and other custom-made equipment
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. Non-surgical interventions may include one or more of the following:
positioning aids - used to help the child sit, lie, or stand
braces and splints - used to prevent deformity and promote support or protection
Surgical interventions may be considered to manage the following conditions:
bowing of bone
scoliosis - a condition that causes the back bones to curve
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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