Osteogenesis Imperfecta
Osteogenesis Imperfecta
Osteogenesis Imperfecta (pronunciation: os·te·o·gen·e·sis im·per·fec·ta), also known as OI or brittle bone disease, is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means "imperfect bone formation".
Etymology
The term "Osteogenesis Imperfecta" is derived from Latin. "Osteogenesis" is a combination of "osteo", meaning bone, and "genesis", meaning creation. "Imperfecta" translates to imperfect, referring to the imperfect formation of bones in this condition.
Symptoms
People with OI may have fractures from minor traumas, bone deformities, blue sclerae, hearing loss, and in severe cases, can be fatal. The severity of symptoms can vary greatly from person to person.
Causes
OI is caused by mutations in several genes that are involved in the production of collagen, a protein that helps strengthen bones. The most common mutations are in the COL1A1 and COL1A2 genes.
Diagnosis
Diagnosis of OI is often based on the symptoms, medical history, and may be confirmed by genetic testing. Other tests such as X-rays or a bone density test may also be used.
Treatment
There is currently no cure for OI. Treatment focuses on managing symptoms and includes physical therapy, pain management, and in some cases, surgery. Medications such as bisphosphonates may be used to increase bone density.
Related Terms
External links
- Medical encyclopedia article on Osteogenesis Imperfecta
- Wikipedia's article - Osteogenesis Imperfecta
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