Osteogenesis imperfecta (OI) is a condition causing extremely fragile bones. It is known as the "brittle bone disease." It is a congenital disease, meaning it is present at birth, and is frequently caused by defect in the gene that produces type 1 collagen, an important building block of bone. There are many different defects that can affect this gene. The severity of OI depends on the specific gene defect. Generally, people with OI have either inadequate collagen or have a poor quality of callagen. This leads to weak bones that can fracture easily, thin and transparant skin and muscles that lack tone.
All people with OI have weak bones, which makes them susceptible to fractures. The severity of the disease varies greatly from person to person.
Symptoms of more severe forms of OI may include:
Diagnosis of Osteogenesis Imperfecta
Treatment of Osteogenesis Imperfecta
Read more about OI.