Brittle bone disease or Osteogenesis Imperfecta (OI) is a rare bone disease. It is a genetic disorder which results in defects in the protein called collagen that is responsible for making stronger bones. Children suffering from the diseases have weaker bones that are susceptible to fractures. Collagen is the building brick of every tissue in the body, not just the bones. So in addition to fractures, there may be muscle weakness, joint laxity, spinal deformities, stunted growth, lung disease, teeth abnormalities, eye problems, deafness etc. It can severely affect the quality of life depending on its type and severity. Some children may have only a few fractures, while the more severe types can result in 100s of fractures. Read more about different types of fractures.
The exact prevalence of OI in Indian population is not known. However, in the west, the estimated range varies between 1 in 20000 and 1 in 50000. The prevalence is likely to be significant in India, but I suspect that it is being under diagnosed. Here’s information on another rare disease affecting children: bone cancers.
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