Osteogenesis Imperfecta (OI) is a genetic disorder characterized by fragile bones that break easily, often with little or no apparent cause, due to defective collagen synthesis. It is primarily caused by mutations in the COL1A1 or COL1A2 genes, leading to a spectrum of clinical manifestations ranging from mild to severe skeletal deformities and other connective tissue abnormalities.

Osteogenesis Imperfecta

Genetic disorders are diseases caused by abnormalities in an individual's DNA, which can be inherited or occur spontaneously. These disorders can range from single-gene mutations to complex conditions involving multiple genes and environmental factors.

genetic disorder

fragile bones

defective collagen synthesis

Mutations in the COL1A1 gene

Mutations in the COL1A2 gene

Clinical manifestations refer to the signs and symptoms associated with a particular disease or condition, serving as crucial indicators for diagnosis and treatment. Understanding these manifestations helps healthcare professionals to identify, monitor, and manage patient health effectively.

clinical manifestations

Skeletal deformities refer to abnormalities in the shape, size, or structure of the bones, which can be congenital or acquired due to various factors such as genetic mutations, nutritional deficiencies, or physical trauma. These deformities can lead to functional impairments, pain, and may require medical intervention ranging from physical therapy to surgical correction.

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