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.
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.”