Osteogenesis imperfecta is a genetic disorder, commonly called brittle BONE disease, in which there are defects in the ways the body produces type 1 collagen, a fibrous protein that is the foundation of bone formation. As a result the bones lack proper structure and density and are highly susceptible to FRACTURE. The defective collagen may affect other structures in the body as well, notably the LUNGS. HEARING LOSS is also common. Most osteogenesis imperfecta is inherited though may occur as the result of spontaneous MUTATION.
There are four types of osteogenesis imperfecta:
The bones of infants who have osteogenesis imperfecta are very fragile and may fracture with the slightest contact, even that of picking up or holding the infant. Nonetheless, touch and holding are very important for proper development. The health-care team can provide suggestions to minimize the risk for fracture. Treatment for fracture is generally conservative, targeting a balance between immobilizing the fracture long enough for it to heal and allowing normal MUSCLE function as quickly as possible. Physical activity helps strengthen muscles and bone, which in turn minimizes fractures. The most numerous fractures occur during childhood when the bones are growing and thus have lower mineral content. The risk for fracture is lifelong, however, and may increase in women after MENOPAUSE when BONE DENSITY naturally declines. There are as yet no treatments to overcome the collagen deficiencies of osteogenesis imperfecta.
See also GENETIC DISORDERS; INHERITANCE PATTERN.
Resource: Facts On File Encyclopedia Of Health And Medicine
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