Osteogenesis imperfecta
| Osteogenesis imperfecta | |
|---|---|
| Synonyms | brittle bone disease, Lobstein syndrome, fragilitas ossium, Vrolik disease |
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| The classic blue sclerae of a person with osteogenesis imperfecta | |
| Classification and external resources | |
| Specialty | Pediatrics, medical genetics, osteology |
| ICD-10 | Q78.0 |
| ICD-9-CM | 756.51 |
| OMIM | 166200 |
| DiseasesDB | 9342 |
| MedlinePlus | 001573 |
| eMedicine | ped/1674 |
| Patient UK | Osteogenesis imperfecta |
| MeSH | D010013 |
| Orphanet | 666 |
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. It results in bones that break easily. The severity may be mild to severe. 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.
The underlying mechanism is usually a problem with connective tissue due to a lack of type I collagen. This occurs in more than 90% of cases due to mutations in the COL1A1 or COL1A2 genes. These genetic problems are often inherited from a person's parents in an autosomal dominant manner or occur via a new mutation. There are eight types with type I being the least severe and type II the most severe. Diagnosis is often based on symptoms and may be confirmed by collagen or DNA testing.
There is no cure. Maintaining a healthy lifestyle by exercising and avoiding smoking can help prevent fractures. Treatment may include care of broken bones, pain medication, physical therapy, braces or wheelchairs, and surgery. A type of surgery that puts metal rods through long bones may be done to strengthen them. Tentative evidence supports the use of medications of the bisphosphonate type.
OI affects about one in 15,000 people. Outcomes depend on the type of disease. Most people, however, have good outcomes. The condition has been described since ancient history. The term "osteogenesis imperfecta" came into use in 1895 and means imperfect bone formation.
Of the eight different types of OI, type I is the most common, though the symptoms vary from person to person.
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