EntityQ749409· pop 42· linked from 311 articles

osteogenesis imperfecta

osteochondrodysplasia that has material basis in a deficiency in type-I collagen which results in brittle bones and defective connective tissue

Key facts

Other names: Brittle bone disease, Lobstein syndrome, fragilitas ossium, Vrolik disease, osteopsathyrosis idiopathica
Pronunciation: / ˌ ɒ s t i oʊ ˈ dʒ ɛ n ə s ɪ s ˌ ɪ m p ɜːr ˈ f ɛ k t ə / , OSS -tee-oh- JEN -ə-siss IM -pur- FEK -tə
Specialty: Pediatrics , medical genetics , orthopedics
Symptoms: Bones that break easily, blue tinge to the sclera (whites of the eye), short height, joint hypermobility , hearing loss
Onset: Birth
Duration: Long term
Causes: Genetic ( autosomal dominant or de novo mutation )
Diagnostic method: Based on symptoms, DNA testing
Prevention: Pre-implantation genetic diagnosis
Management: Healthy lifestyle (exercise, no smoking), metal rods through the long bones
Medication: Bisphosphonates
Prognosis: Depends on the type
Frequency: 1 in 15,000–20,000 people

via Wikipedia infobox

Article

Osteogenesis imperfecta ( IPA: /ˌɒstioʊˈdʒɛnəsɪs ˌɪmpɜːrˈfɛktə/; OI), colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that break easily. The range of symptoms—on the skeleton as well as on the body's other organs—may be mild to severe. Symptoms found in various types of OI include whites of the eye (sclerae) that are blue instead, short stature, loose joints, hearing loss, breathing problems and problems with the teeth (dentinogenesis imperfecta). Potentially life-threatening complications, all of which become more common in more severe OI, include: tearing (dissection) of the major arteries, such as the aorta; pulmonary valve insufficiency secondary to distortion of the ribcage; and basilar invagination.

The underlying mechanism is usually a problem with connective tissue due to a lack of, or poorly formed, type I collagen. In more than 90% of cases, OI occurs due to mutations in the COL1A1 or COL1A2 genes. These mutations may be hereditary in an autosomal dominant manner but may also occur spontaneously (de novo). There are four clinically defined types: type I, the least severe; type IV, moderately severe; type III, severe and progressively deforming; and type II, perinatally lethal. As of September 2021, 19 different genes are known to cause the 21 documented genetically defined types of OI, many of which are extremely rare and have only been documented in a few individuals. Diagnosis is often based on symptoms and may be confirmed by collagen biopsy or DNA sequencing.