Osteogenesis+imperfecta

= Osteogenesis Imperfecta =



1. Who first discovered this disorder? Where, when and what circumstances was it discovered? Jean Lobstein discovered Osteogenesis Imperfecta (OI) in 1833. He observed the disorder in adults and discovered it while working as a professor of pathological anatomy in Germany.

2. What are the symptoms/characteristics associated with this disorder? At what age do the symptoms begin? Are the symptoms treatable? If so, how? Is the disorder fatal? Osteogenesis Imperfecta is an inherited disorder that causes extreme fragility of the bones. There are 8 types of OI, the most common characteristics associated with it are bone fractures, blue or blue-gray sclera (the normally white area of the eyeball), bone deformity, spinal curvature, hearing loss, and dental abnormalities. People with OI experience frequent broken bones from infancy through puberty. The frequency of broken bones typically decrease in the young adult years but may increase again later in life. The symptoms of OI are treatable by fracture care, physical therapy, bracing, surgical procedures, and bone-strengthening medication. The fatality of OI depends on the type. For example, type 2 normally affects infants and almost all infants die during or after birth due to respiratory problems, people with type 1 have an average life expectancy rate.



3. What is the inheritance pattern of the disorder: dominant, recessive, sex-linked, autosomal, other? Most cases of OI have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition.

4. Are there any environmental factors that can affect the symptoms (either aggravate or alleviate)? There are no known environmental factors that affect the symptoms of OI.

5. How common is the disorder? Does it occur more frequently in certain parts of the world or in certain ethnic groups or in one sex? Types 1-3 of OI are very uncommon and 4-8 is considered to be rare. A higher incidence of OI has been observed in 2 major tribal groups in Zimbabwe. There are no known differences based on gender.

6. What tests are done to confirm a diagnosis of this disorder? A DNA analysis test, which is looking directly for the mutation is done to confirm a diagnosis, a blood or saliva sample is needed for the testing.

7. Is it caused by a gene mutation? Which gene is involved? Is it caused by a chromosomal mutation? Which type: nondisjunction, deletion, inversion, etc.? Mutations in the COL1A1 and COL1A2 genes are responsible for more than 90 percent of all cases of osteogenesis imperfecta. OI can be caused by deletion in chromosomes, but there are other mutations that can cause it as well.


 * = [[image:epiehonorsbiology/OI Legs.jpg width="333" height="455" align="center"]] ||= [[image:epiehonorsbiology/Normal Leg.png width="344" height="459" align="center"]] ||
 * = Severely affected leg of a person with OI  ||= Unaffected leg ||

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Wishbone day, also known as Osteogenesis Imperfecta awareness day, is an  international awareness day for OI. It is celebrated on May 6th every year.

[] [] [] [] [|https://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta#genes]