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6 Things to Know About Osteogenesis Imperfecta

Osteogenesis imperfecta (OI)—also referred to as brittle bone disease—is a disorder where a person’s bones are very fragile, causing them to break easily, oftentimes without cause. It is relatively rare, affecting approximately 1 in 20,000 people, and “occurs with equal frequency among males and females and among racial and ethnic groups,” says the National Human Genome Research Institute.

As it is a genetic condition, OI is typically present at birth, although the severity with which the child experiences the disorder largely depends on the type they have. Let’s take a closer look at these types, as well as the symptoms to expect and what treatment options are available, with these six facts about OI.

1. Causes

As previously mentioned, OI is a genetic condition. According to Healthline.com, it results due to “a defect, or flaw, in the gene that produces type 1 collagen, a protein used to create bone.” Without a sufficient amount of type 1 collagen, a person’s bones become brittle and can break easily.

While in most cases the defective gene is passed directly from a parent with OI to their child, the American Academy of Orthopaedic Surgeons says it is possible for a child to get OI even if neither parent has the condition. “In these cases,” the source says, “the genetic defect is a spontaneous mutation (change) in the gene, and it stops functioning correctly.”

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