Osteogenesis Imperfecta

By: Meghan Kendall & Sierra Mayerson

What is it?

Osteogenesis imperfecta (OI) is a group of genetic diseases in which the bones are formed improperly. This happens when collagen, the fibrous protein material that makes up skin, bone, cartilage, and ligaments are faulty.

How it's inherited/caused

Osteogenesis imperfecta is a congenital disease (present at birth.) It's cause by a defect in the gene that produces an important building block of bone. OI is an autosomal dominant disease, meaning if you have one copy of the defected gene you will receive the disease.

Symptoms

  • Blue tint to the whites of their eyes
  • Multiple bone fractures
  • Early hearing loss

More severe cases

  • Bowed legs & arms
  • Kyphhosis
  • Scoliosis

Treatments

There are no specific treatments for this specific disease. There are specific therapies to help reduce the pain such as Bisphonsphonats which are drugs that help osteoporosis as well as osteogenesis imperfect. Surgery is also an option for those who have severe cases.

How OI affects the life on an individual

OI happens to make someone feel uncomfortable and may restrain them from doing normal daily activities that others participate in.

  • A lot of stress is put on the body causing splints, casts, and braces to be used.
  • Form of OI restrict the lungs causing breathing to be difficult.
  • Hearing aids or capping of the teeth may be necessary as well.
  • A person with OI has a 50% chance of passing it to their children.


Works Consulted

Works Cited

Osteogenesis Imperfecta.“ World of Health. Gale, 2007. Science In Context. Web. 22 May 2013.


PubMed Health. A.D.A.M, 2 Aug. 2011. Web. 22 May 2013. <http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002540/#adam_001573.disease.symptoms>. Crap test: Encyclopedia