What is osteogenesis imperfecta?
Osteogenesis imperfecta (OI), also known as brittle-bone disease, is a genetic (inherited) disorder characterized by bones that break easily without a specific cause. An estimated 20,000 to 50,000 people in the US have this disease. OI can affect males and females of all races. What causes osteogenesis imperfecta? The cause of OI is believed to be due to a genetic defect that causes imperfectly-formed, or an inadequate amount of, bone collagen – a protein found in the connective tissue. What are the types and symptoms of OI? The following are the most common symptoms for osteogenesis imperfecta. However, each individual may experience symptoms differently. Although symptoms may vary, generally they are used to classify the four forms of OI, each of which represents the severity of the condition. According to the Osteoporosis and Related Bone Diseases National Resource Center, part of the National Institutes of Health (NIH), the types of OI and their symptoms include the following: Type
Osteogenesis imperfecta (OI) is a genetic disorder of type 1 collagen-the protein “scaffolding” of bone and other connective tissues. People with OI have a faulty gene that instructs their bodies to make either too little type 1 collagen or poor quality type 1 collagen. The result is bones that break easily. Four forms of osteogenesis imperfecta have been described, representing wide variation in appearance and severity. It is estimated that between 20,000 and 50,000 people have OI in the United States. Below are the clinical features of the four major types of OI. Clinical features vary widely not only between types, but within types, and even within the same family. Many individuals with OI have only some-not all-of the clinical features. Children with milder OI, in particular, may have few obvious clinical features of OI. Type I -Most common and mildest type of OI. Bones predisposed to fracture. -Most fractures occur before puberty. -Normal or near-normal stature. -Loose joints and
