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What are the symptoms of Type I Osteogenesis Imperfecta?

By  ,  National Institute of Health
Jan 12, 2013
4.8 / 5(4 Ratings)

OI affects people in several ways and may vary from person to person. Even among people with Type I OI in the same family, there may be differences. Below is a list of signs and symptoms common among people with Type I OI. Many people with Type I OI have only some—not all—of these characteristics:

  • Bones are predisposed to fracture. Most fractures occur before puberty and again in later years.
  • Joints are somewhat predisposed to other connective tissue injuries, such as dislocations.
  • Skin may bruise easily.
  • Height is variable and generally below average for age. Adult height may be similar or slightly shorter when compared with unaffected family members.
  • Joints are loose, with some muscle weakness and lax ligaments.
  • Spinal curvature (scoliosis) is frequently seen but tends to be mild.
  • Scleras (whites of the eyes) usually have a distinctly blue or gray tint.
  • Face shape is somewhat triangular.
  • Bone deformity is absent or minimal and occurs after fractures have occurred.
  • Brittle teeth (dentinogenesis imperfecta) are possible.
  • Hearing loss is possible, often beginning during teen or young adult life but perhaps starting sooner.

Some people with Type I OI are very mildly affected. They may have only a few fractures. They are of average or even above-average height; are able to walk and run; and have signs of OI that are barely noticeable, such as blue-tinted sclera or loose joints. In fact, some people are so mildly affected that they are not diagnosed until their teen or adult years. In some cases, they are not diagnosed until after they have a child diagnosed with Type I OI.
Other people with Type I OI have more distinct symptoms. They may have several dozen or more fractures; sometimes use a wheelchair, walker, braces, or crutches for mobility; be somewhat smaller than the rest of their family; or require treatments such as rodding surgery.


In most cases, people with Type I OI seem to experience fewer fractures after puberty, when the bones are no longer growing as quickly. Even so, the genetic defect still exists, and adults with Type I OI need to be aware of how the disorder may affect them throughout life. This is especially important for women when they go through menopause and men age 50 and older. Bone density will be lower throughout life in people with OI than in their peers.

 

 

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