Osteogenesis imperfecta

By: Kaela Borders

Osteogenesis imperfecta also known as brittle bone disease is a disorder that results in bones breaking easily. This disease is usually able to be seen at birth. One must have a family history of this disease in order to develop it. Osteogenesis imperfecta is classified as a very rare disease. There are many different stages of this disease ranging from mild to severe.  In severe cases of this disease it can cause spinal cord problems, hearing loss, heart failure as well as permanent deformities. This disease is caused due to a mutation in the gene that produces type 1 collagen. There are 4 different genes that make up the collagen production. In order to diagnose this disease a doctor will take x-rays to see current and past bone fractures, and then run blood work to look at a childs collagen structure. Osteogenesis is treated in many different ways such as reconstructive surgery, low-impact exercises, medication to reduce pain and many other ways. Unfortunately at this time there is no known cure for this disease.

References

https://www.healthline.com/health/osteogenesis-imperfecta#treatment