bone deformity
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Explore overview, symptoms, causes, treatment, diagnosis, prevention, and FAQ articles for this condition.
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Symptoms of Osteogenesis imperfecta
Osteogenesis imperfecta is a genetic disorder whose symptoms are dominated by fragile bones, but the condition affects more than the skeleton. The most characteristic symptoms include frequent fractures, bone deformity, short stature, joint laxity, muscle weakness, blue or gray discoloration of…
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What is Osteogenesis imperfecta
Osteogenesis imperfecta is a group of inherited disorders in which the body makes abnormal bone matrix, most often because of defects in type I collagen. Collagen is the main structural protein that gives bone its tensile strength, so when collagen is…
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Causes of Osteogenesis imperfecta
What causes Osteogenesis imperfecta? The condition is caused primarily by inherited changes in genes that control the formation of bone, especially genes involved in making type I collagen, the main structural protein in bone. When these genes do not function normally,…
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Diagnosis of Osteogenesis imperfecta
Osteogenesis imperfecta is usually identified through a combination of clinical observation, family history, imaging, and, when needed, genetic testing. The disorder is caused by abnormalities in type I collagen, a structural protein that gives bone much of its strength and flexibility.…
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Treatment for Osteogenesis imperfecta
What treatments are used for Osteogenesis imperfecta? The condition is managed with a combination of medications, orthopedic procedures, physical rehabilitation, monitoring, and supportive care. There is no single cure for osteogenesis imperfecta, but treatment can reduce fracture frequency, improve mobility, preserve…
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Prevention of Osteogenesis imperfecta
Osteogenesis imperfecta (OI) is a group of inherited disorders in which bones are unusually fragile because the body does not make normal type I collagen, or makes too little of it. Because the underlying problem is usually genetic, OI is not…
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FAQ about Osteogenesis imperfecta
This FAQ explains the key facts about osteogenesis imperfecta, often abbreviated as OI. It covers what the condition is, why it happens, how it is diagnosed, what treatment can do, and what to expect over time. The answers focus on the…