The symptoms of osteogenesis imperfecta vary a great deal, even among people with the same type and within the same family. Not all of the signs show up in every case. In general, the symptoms of osteogenesis imperfecta include:
- A tendency toward spinal curvature
- Abnormalities in collagen ranging from the body producing too little to structural problems
- Bones that break easily (most before puberty)
- Brittle teeth
- Changes in the sclera (whites of the eyes), which may have a blue, purple or gray tint
- Height that ranges from shorter than average to normal, depending on the form of the disease
- Loose joints and muscle weakness
- Loss of hearing beginning in the early 20s or 30s
- Triangular face
In more severe forms of osteogenesis imperfecta, there may be bone deformities, poor lung development and lung problems, a barrel-shaped chest, poor muscle development in the arms and legs.
Causes and Risk Factors
Osteogenesis imperfecta is caused by a faulty gene that affects the body's ability to produce collagen. The quantity of collagen produced is either lower or of a poorer quality.
If one parent has osteogenesis imperfecta, a child has a 50% chance of having the condition. Sometimes, however, the disease appears in children who have no family history of osteogenesis imperfecta.