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Osteogenesis Imperfecta

Osteogenesis Imperfecta. Miya Kusumoto IB Biology, Pd 4/5. Facts. Osteogenesis Imperfecta (OI) is a genetic disorder in which bones break easily. There are 8 recognized types, Type I being the mildest and Type II being the most severe.

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Osteogenesis Imperfecta

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  1. OsteogenesisImperfecta Miya Kusumoto IB Biology, Pd 4/5

  2. Facts • OsteogenesisImperfecta (OI) is a genetic disorder in which bones break easily. • There are 8 recognized types, Type I being the mildest and Type II being the most severe. • 85-90% of OI cases are caused by a dominant genetic defect • There is not an actual cure for OI, but there are treatments that can control or prevent the symptoms

  3. Causes and Treatment • OI is has an autosomal dominant inheritance pattern, meaning that a person will still have OI even though only 1 faulty gene is being passed. • OI is caused by a mutation on a gene that affects the body’s production level of collagen found in bones and tissues • Because there is no specific cure for OI, doctors focus on finding ways to minimize fractures, maximize mobility, and improve general health. • So, some of the treatments include swimming, physical therapy, casts, splints, medications, and orthopedic surgery

  4. Symptoms Type I OI Type II OI • Bones Fracture easily • Weak Muscles and loose joints • Purple, Blue, or Grey tinted sclera (whites of the eye) • Triangular Face • Brittle Teeth • Hard to live after birth because of respiratory problems • Severe and numerous fractures and bone deformities • Small build with underdeveloped lungs • Tinted Sclera • Improperly formed collagen

  5. More Info • It is estimated that 20,000-50,000 people in the U.S. have OI • Affects about 6-7 people per 100,000 worldwide • Types I and IV are the most common

  6. Societal Issues • There aren’t any major societal issues, in many of the mild cases, it is barely recognizable • OI cases appear to be similar worldwide, but there is an increased rate observed in 2 major tribal groups in Zimbabwe.

  7. Bibiliography • http://www.oif.org/site/PageServer • http://www.nlm.nih.gov/medlineplus/osteogenesisimperfecta.html • http://emedicine.medscape.com/article/947588-overview • http://my.clevelandclinic.org/disorders/osteogenesis_imperfecta/hic_osteogenesis_imperfecta.aspx

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