Final answer:
Osteogenesis Imperfecta (OI) is a genetic disorder known as brittle bone disease, caused by mutations in the production of quality collagen, leading to weak and easily fracturable bones, as well as a variety of other physical issues.
Step-by-step explanation:
Osteogenesis Imperfecta (OI) is a group of genetic disorders arising from a mutation that affects the body's ability to produce high-quality collagen, which is crucial for forming strong bones. This mutation often substitutes bulky side chain amino acids for glycine, resulting in impaired collagen structure.
As a result, individuals with this disorder tend to have very fragile bones that are susceptible to fractures even upon mild trauma. The severity of OI can vary, with some cases presenting in early infancy and others being so severe that they result in prenatal death. Symptoms of OI can include frequent and multiple fractures, bone deformities, short stature, bowing of the long bones, and spinal curvature that can complicate breathing by compressing the lungs. Individuals may also experience a range of issues associated with collagen deficiency such as fragile skin, weak muscles, loose joints, and easy bruising. There is no cure for OI, so treatment primarily aims at improving quality of life by minimizing fractures and maximizing mobility.