Osteogenesis Imperfecta

See all Pictures & Images

Symptoms & Signs

When people have OI, all of their bones are abnormally weak. The severity of the abnormality varies enormously -- from Type II OI, which is usually lethal in infancy (or even before birth) to Type I OI, which may be so mild that the diagnosis is not made, even in adulthood.

The three classic symptoms of OI includes fragile bones, early hearing loss, and whites of the eyes that appear bluish (blue sclerae). Nevertheless, not all people with OI will have blue sclerae or hearing loss. All do have fragile bones, but not all people with OI actually ever break a bone.

A variety of other symptoms may be found in the various types of OI:

• bone fracture (broken bone)
  • more than one broken bone occurring in a single episode (multiple)
  • present at birth
  • occuring after only minor trauma
  • a minority of people with OI never break a bone
• deformed or short extremities (such as leg deformities or arm deformities)
• deafness (conductive hearing loss may occur in adolescents and adults)
• kyphosis
• kyphoscoliosis
• short stature
• tooth abnormalities
• low nasal bridge
• pectus carinatum
• pectus excavatum
• pes planus (flat feet)
• joint laxity
• hypermobility
• easy bruising
• bowed legs