General Information About Osteogenesis Imperfecta
Disease Details and Frequently Asked Questions
It is a congenital and genetic disease where bones are as fragile as glass and undergo deformation due to the faulty synthesis of collagen, which is the building block of bones.
It occurs as a result of a mutation in the genes (COL1A1 or COL1A2) that control type 1 collagen production. It is mostly inherited in an autosomal dominant manner from the mother or father.
No. Since collagen deficiency affects the entire body, patients may also have a blue/gray tint to the whites of their eyes (sclera), early hearing loss, weak teeth (dentinogenesis imperfecta), and loose joints.
Fractures occurring with the slightest impact (sometimes even while sneezing or changing a diaper), short stature, and curvatures in the spine and legs are the most fundamental symptoms.
It is diagnosed through physical symptoms, a history of frequent fractures, and radiological imaging (bone X-rays). A definitive diagnosis is made with genetic DNA tests that detect the mutation.
Since it is a genetic disease, there is no definitive cure. The frequency of fractures is reduced by using medications (bisphosphonate group) that slow down bone resorption. Through orthopedic surgery, bones are strengthened by inserting titanium rods into bent long bones.
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