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OI Clinic at Kennedy Krieger InstituteNEW - Osteogenesis Imperfecta Registry!


She Can Succeed, You Can Help Osteogenesis Imperfecta An estimated 50,000 people in the United States live with osteogenesis imperfecta (OI), a genetically-based skeletal disorder characterized by abnormally brittle bones. Despite its prevalence and frequently severe effects, many people don't know this disorder exists. In fact, some parents who are not aware that their child has OI, have been accused of child abuse when they are unable to explain the cause of their child's fractures.

What causes OI? OI originates from a mutation in one of the two genes responsible for making Type 1 collagen, the protein of connective tissue, cartilage and bone. As a result of this mutation, affected individuals develop either collagen of poor quality or an insufficient amount of collagen. Both conditions cause brittleness of the bones.

How severe is OI? Because of the extreme variability of the disorder - OI is classified into four types based on symptoms and etiology (gene mutation versus heredity) - its severity varies widely from case to case. Individuals with OI can experience as few as ten fractures in a lifetime or several hundred. They may be completely ambulatory or they may rely entirely on a wheelchair for mobility. Persons with a mild form of the disorder may not discover they have OI until later in life. Some cases of OI begin to affect individuals even before they are born. In these instances, trauma to the skull during delivery can lead to brain damage or stillbirth.

What is life like for individuals with OI? Despite the obstacles they face, many individuals with OI enjoy productive and fulfilling lives well into their adult years. As OI awareness increases among the public and greater support is provided for research into the disorder, the future of individuals with OI will grow brighter. Currently, few clinics are equipped specifically to treat OI patients. Kennedy Krieger Institute, however, has established a clinic designed to treat OI symptoms and improve the quality of life for these patients.