Osteogenesis Imperfecta

Rose Carlson


Osteogenesis Imperfecta (OI) is a genetic disorder where the collagen, a structural material in bones, is improperly formed. This makes bones easy to break and delicate. OI has four stages, where stage ll is the most severe. This stage causes death shortly after birth. Types l, lll, and lV all have similar symptoms and vary in severeness.


  • OI effects 6 or 7 people per 100,00.
  • Stage I and IV are most common.

Chance of Inheritance
  • It only takes one parent to be a carrier for the child to have a 50% chance of having the disease.
  • A child with one parent with the disease (heterozygous) means the child has a 50% chance of having the disease or 50% of the child not having the disease.

  • The disease can be found on the autosomal chromosome which is one of the first non-sex chromosomes.
  • OI is a dominant disease.

Passing on OI
  • Types I and IV (less severe) are normally passed down from the autosomal dominant inheritance, which is one abnormal gene causing the condition.
  • This means they have inherit a mutation from their parents causing the disease.
  • However, when babies are born with OI stage II, it normally means it doesn't have to do with family history, and has a NEW mutation that caused the disease.


Mild Symptoms: Types I and IV
  • Improper bone collagen.
  • 20-40 bone fractures before puberty .
  • The white part of the eye is tinted gray/blue.
  • Hearing can be lost in adulthood.
  • Easy to bruise.
  • Triangular shaped face.
  • Normal height.

Severe Symptoms: Types II and III
  • Improper bone collagen.
  • 100 bone fractures before puberty.
  • Shorter than average height.
  • Respiratory problems such as underdeveloped lungs.
  • Small, mishapen rib-cage.
  • Scoliosis.
  • Triangular shaped face.
  • Teeth development issues.

Tests and Treatments


Prenatal test can include an ultra-sound to look for any bruises or fractures on the baby's head. There is also a test called amniocentesis where doctors take a sample of the mothers amniotic fluid to see of the baby has OI but this process is only recommended for families with a history in OI. Unfortunately, there is no way to prevent or treat OI. After the baby is born the parents could either watch for fractures or have their baby's DNA tested. Another option is to have their baby's collagen tested to see if their bone collagen is formed improperly, causing the disease.


There is no treatment for Osteogenesis Imperfecta. However, splints, cast, and metal rods (put in the body to mimic bones) can be used to help treat fractures. Other pain can be treated with pain killers. Also, exercise is encouraged to strengthen bones. Wheelchairs maybe be needed.

Current Research

There has been a recent longitudinal study of OI where scientist take over 1000 participants and have them report symptoms and their personal experience with OI. This study will help give information to then create better medicine and find more ways to help people with OI. To make this experiment work, the scientist need participants of all ages and have different stages of OI. This study is taking place in the United states and in Canada. One Medicine Doctors includes: Peter Smith from Chicago, Il, as well as 8 other doctor participants.

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