Osteogenesis Imperfecta (OI) means “bones formed imperfectly”. It is a genetic condition that someone is born with and will always carry throughout their life. It primarily affects the bones, causing them to be fragile.
There are currently 5 ‘Types’ of OI (with many sub-types) that vary in the level of fragility and other accompanying properties. 17 genetic causes have been identified and research continues. It is estimated that roughly 7 people per 100 000 are born with OI. It is considered rare.
The mildest form of OI (Type I) is the most common and can often go undiagnosed until later in life. OI may also result in: short stature, blue tinted sclerae (the white of the eyes), hearing loss, brittle teeth, muscle weakness, hypermobility and restricted breathing.
Children born with more severe Types of OI can often sustain fractures in the womb or during childbirth. The most severe cases of OI can result in infant death, often due to respiratory failure during or shortly after birth. People with OI are all unique! No two people display exactly the same characteristics of OI, even within the established Types.
OI presents with a wide range of appearances and severities. It is typically classified as mild, moderate, or severe, with the most severe forms potentially resulting in early death. Clinical characteristics—including fracture frequency, muscle strength, and extra-skeletal issues—can vary significantly not only between different types of OI but also within the same type and even among members of the same family. Additionally, some features of OI change with age.
