Genetic Disorders

Osteogenesis Imperfecta (OI)

What is it about?

Osteogenesis Imperfecta (OI) is also know as brittle bone disease. That means your bones can fracture easily, you have loose joints, muscle weakness, and you lose you hearing when you are and adult.

How do you get this disorder?

You can get this disorder before or after birth. If you get it before birth, then you inherited from an affected parent. It is caused by a single dominant mutation in one of two types of collagen genes. The two types of these genes are COL1A1 and COL1A2.

What can doctors do?

Well, there is currently no cure for Osteogenesis Imperfecta (OI). You have to go to supportive therapies.

Can it be Treated?

Well, you have to go through supportive therapies and take medicine while you're there. Scientists and Doctors are trying a new thing called bisphosphonates which is being used for bone formations and stuff like that.


One in every twenty thousand individuals are diagnosed after birth. Also, your bones break easily, your muscles are weak, you have loose joints, and you lose your hearing when you are a mid-aged adult.
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