Osteogenesis imperfecta

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

Osteogenesis imperfecta is a genetic disorder.[1] It is commonly called brittle bone disease. It is an autosomal dominant disease, which means a person can get if only one of their parents has the abnormal gene.[2] OI affects the part of the bones called the collagen rod, which provides bone strength. The abnormal gene weakens or even destroys the collagen rod.[3] This disease was first identified by Vrolik in 1854.[4]

Osteogenesis imperfecta is a disease that occurs when someone has weak bones, and it is a genetic disorder. When someone has this disease, their bones are most likely to break. Unfortunately, osteogenesis imperfecta is not curable.[5] This disease is categorized in four types: Type one is the most common case and it often causes brittle teeth and bone related injuries. Type two is a more severe version of type one and has most of the same symptoms just in more severe cases. People with type three of osteogenesis imperfecta may have more than 100 fractures before puberty. Their eyes often develop a purple, blue, or grey tint and people with this case also often have hearing loss. 50% of people that have osteogenesis imperfecta have hearing loss while becoming an adult. Type 4 is a more severe case of most symptoms stated above.[6]


Less severe symptoms of OI may include:

OI has many other serious and fatal symptoms including respiratory problems and bone deformity.


OI occurs equally in both male and females and can affect all ethnic groups. OI happens in the womb and there is no cure. It is usually discovered when someone breaks a lot of bones; they may have DNA testing to check for OI. It occurs in 1 in 20,000 births.


  1. "Osteogenesis Imperfecta Foundation:". oif.org. Retrieved 13 September 2010.
  2. "Autosomal dominant: MedlinePlus Medical Encyclopedia". nlm.nih.gov. Retrieved 13 September 2010.
  3. "Osteogenesis Imperfecta Foundation: Understanding Bone Structure". oif.org. Retrieved 13 September 2010.
  4. Wilson, Jennifer F. "Osteogenesis Imperfecta." Gale Encyclopedia of Genetic Disorders. Canada, 2002. Print.
  5. "Osteogenesis imperfecta." World of Health. Gale, 2007. Student Resources in Context. Web. 23 Feb. 2016.
  6. Galenet.galegroup.com,. "Password Logon Page". N. p., 2016. Web. 22 Feb. 2016