The main characterics of OI are: bone fragility, short stature, scoliosis and other skeletal deformities, loose joints, blue sclerae, hearing impairment, fragile teeth (dentinogenesis imperfecta), heart and lung issues. Whilst OI is a pure physical condition, recent research has shown that people with OI may also experience significant psycho-social impact such as anxiety or isolation. OI can exist in a mild, moderate or severe form.
Broken bones that occur from little or no trauma are often the first indication that an infant or child may have OI. Babies with moderate or severe forms of OI are often born with broken bones. Children with milder OI (Type I) often sustain their first broken bone as a result of normal activity—during a diaper change, while being lifted or burped, or when they begin standing and walking. Some very mild cases of OI Type I are not diagnosed until the teen or adult years.
OI remains primarily a clinical diagnosis. A physician, usually a geneticist, can often diagnose the condition based on the presence of fractures and other clinical features. A genetic test can confirm the diagnosis. This is particularly important to differentiate the injury from those caused by physical child abuse. Additional blood and urine tests are often used to rule out other disorders such as Hypophosphatasia or rickets. The more severe forms of OI can be diagnosed prenatally.
Source: Our partner OIF (OI Foundation) with small adaptations.