User:Mr. Ibrahem/Osteogenesis imperfecta
Group of genetic disorders that mainly affect the bones / From Wikipedia, the free encyclopedia
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones.[1][6] It results in bones that break easily.[1] The severity may be mild to severe.[1] Other symptoms may include a blue tinge to the whites of the eye, short height, loose joints, hearing loss, breathing problems and problems with the teeth.[1][4] Complications may include cervical artery dissection and aortic dissection.[7][8]
Osteogenesis imperfecta | |
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Other names | Brittle bone disease,[1] Lobstein syndrome,[2] fragilitas ossium,[1] Vrolik disease,[1] osteopsathyrosis, Porak disease, Durante disease[3] |
The classic blue sclerae of a person with osteogenesis imperfecta | |
Specialty | Pediatrics, medical genetics, osteology |
Symptoms | Bones that break easily, blue tinge to the whites of the eye, short height, loose joints, hearing loss[1][4] |
Duration | Long term[4] |
Causes | Genetic (autosomal dominant, new mutation)[1] |
Diagnostic method | Based on symptoms, DNA testing[4] |
Treatment | Healthy lifestyle (exercise, no smoking), metal rods through the long bones[5] |
Prognosis | Depends on the type[4] |
Frequency | 1 in 15,000 people[1] |
The underlying mechanism is usually a problem with connective tissue due to a lack of type I collagen.[1] This occurs in more than 90% of cases due to mutations in the COL1A1 or COL1A2 genes.[1] These genetic problems are often inherited from a person's parents in an autosomal dominant manner or occur via a new mutation.[1] There are at least eight main types, with type I being the least severe and type II the most severe.[1] Diagnosis is often based on symptoms and may be confirmed by collagen or DNA testing.[4]
There is no cure.[4] Maintaining a healthy lifestyle by exercising and avoiding smoking can help prevent fractures.[5] Treatment may include care of broken bones, pain medication, physical therapy, braces or wheelchairs and surgery.[5] A type of surgery that puts metal rods through long bones may be done to strengthen them.[5] Tentative evidence supports the use of medications of the bisphosphonate type.[9][10]
OI affects about one in 15,000 people.[1] Outcomes depend on the type of disease.[4] Most people, however, have good outcomes.[4] The condition has been described since ancient history.[11] The term "osteogenesis imperfecta" came into use in 1895 and means imperfect bone formation.[1][11]