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What is Type I Osteogenesis Imperfecta?

Updated at: Jul 15, 2014
Other Diseases
Written by: Himanshu SharmaPublished at: Jul 11, 2011
What is Type I Osteogenesis Imperfecta?

Type I is the mildest and most common form of Osteogenesis Imperfecta. Most of the cases of it are caused by a dominant genetic mutation that affects the body’s production of type 1 collagen.

Type I is the mildest and most common form of osteogenesis imperfecta. Type I OI can have the characteristics of an invisible disorder, meaning it is not apparent to a casual observer. Nearly all cases of OI, mild or severe, are caused by a dominant genetic mutation that affects the body’s production of type 1 collagen.


osteogenesis imperfecta



Osteogenesis imperfecta affects people in several ways and may vary from person to person. The most common signs and symptoms of Type I osteogenesis imperfecta are as follows.

  • 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.
  • 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.
  • 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. Others may 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.



The treatment for children with Type I OI is fracture management, healthy diet, therapy to regain strength and mobility after fractures or surgery. Many orthopaedists prefer short-term casting for fractures, followed as soon as possible by a splint or brace that can be removed for appropriate exercise. Developing healthy lifestyle habits is an important part of managing OI.



Read more articles on Type I osteogenesis imperfecta.




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