Rachel P - Osteogenisis Imperfecta

Osteogenesis imperfecta also called the brittle bone disease, is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. There are at least four recognized forms of the disorder, representing a range of severities. People with Osteogenesis imperfecta have less collagen than normal, or it is less quality. The earliest studies of this disease began in 1788 by Olof Jakob Ekman. The prognosis for an individual with OI varies greatly depending on the number and severity of symptoms. Despite numerous fractures, restricted activity, and stunted growth, most adults and children with OI lead productive and successful lives. Symptoms of OI are weak bones, hearing loss, blue sclerae (where the whites of your eyes have a blue tint). Bone fracture, more than one broken bone at a time, fractures present at birth, Deformed or short legs or arms, curved or humped spine. Most cases of osteogenesis imperfecta have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. Less commonly, osteogenesis imperfecta can have autosomal recessive pattern. This means that the parents of a child with an autosomal recessive disorder are not affected, but each carry one copy of the altered gene. Different treatments would be determined based on patients age, overall health, and medical history extent of the disease, patients tolerance for specific medications, procedures, or therapies expectations for the course of the disease, opinion or preference. As of now, there are no known cures for osteogenesis imperfecta. The goal of treatment is to prevent deformities and fractures and allow the child to function as independently as possible. The most common treatments are extensive surgical and dental procedures, and physical therapy. The picture shows collagen that is under developed.