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Osteogenesis Imperfecta Overview

Source: www.niams.nih.gov
Topic: Osteogenesis imperfecta
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Sort Desciption: Definition Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. There are at least four recognized forms of the disorder, representing a range of severities. ...

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Definition Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. There are at least four recognized forms of the disorder, representing a range of severities. For example, a person may have just a few or as many as several hundred fractures in a lifetime. Prevalence While the number of people affected with OI in the United States is unknown, the best estimate suggests a minimum of 20,000 and possibly as many as 50,000. Diagnosis OI is caused by a genetic defect that affects the bodys production of collagen. Collagen is the major protein of the bodys connective tissue and can be likened to the framework around which a building is constructed. In OI, a person has either less collagen than normal, or a poorer quality of collagen than normal, leading to weak bones that fracture easily. It is often, though not always, possible to diagnose OI based solely on clinical features. Clinical geneticists can also perform biochemical (collagen) or molecular (DNA) tests that can help confirm a diagnosis of OI in some situations. These tests generally require several weeks before results are known. Both the collagen biopsy test and DNA test are thought to detect almost 90% of all collagen type 1 mutations. National Institutes of Health Osteoporosis and Related Bone Diseases National Resource Center 2 AMS Circle Bethesda, MD 20892-3676 Tel: (800) 624-BONE or (202) 223-0344 Fax: (202) 293-2356 TTY: (202) 466-4315 Internet: www.niams.nih.gov/bone E-mail: NIAMSBONEINFO@ mail.nih.gov The NIH Osteoporosis and Related Bone Diseases National Resource Center is supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases with contributions from the National Institute of Child Health and Human Development, National Institute of Dental and Craniofacial Research, National Institute of Diabetes and Digestive and Kidney ...

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