OI:About Osteogenesis Imperfecta

What is osteogenesis imperfecta (OI)?

Osteogenesis imperfecta (OI) is a genetic skeletal disorder characterized by abnormally fragile bones. It is often called “brittle bone disease” and affects an individual throughout their lifetime. OI individuals may have blue sclerae, a bluish “tint” in the whites of their eyes.

What happens to someone with OI?

Individuals with OI may experience fractures in varying severity and circumstances, typically from childhood through puberty and on into their twenties. People who have OI have been found to have other medical characteristics and issues as they mature, including:

  • scoliosis
  • bone pain
  • hearing loss
  • vision loss
  • dentinogenesis imperfecta (brittle teeth)
  • short stature
  • pulmonary/respiratory issues
  • cardiac issues
  • kidney/renal issues

What are the types of OI?

OI is classified into various types based upon symptoms, but are generally referred to as “mild” or “severe”. To date, there are several types of classifications:

Type I: mildest form, about 50% of all OI cases, blue sclerae, looks “normal”

Type II: most severe form; infants born tend to survive no more than 2 weeks and die from respiratory or cardiac complications

Type III: most severe form among children who survive neonatal period, blue sclerae, extremely short stature, triangular faces, significant care issues

Type IV: moderately affected compared to Type III

Type V: large hyperplastic calluses, calcification of interosseous membrane on the arm

Type VI: extremely rare, distinguished by mineralization defect seen in biopsied bone

Type VII: considered a severe form, recessively inherited, mutations in CRTAP and LEPRE genes

Type VIII: Severe or lethal recessively inherited mutation in CRTAP

For additional detail on each of the above visit www.OIf.org.

What can I do about OI?

There is currently no “cure” for OI; however, there are ways to manage OI. Despite the obstacles they face, many individuals with are able to enjoy productive and fulfilling lives well into their adult years. Current ways to treat or manage OI include:

  • Physical therapy and safe exercise including swimming
  • Casts, splints or wraps for broken bones
  • Braces to support legs, ankles, knees and wrists as needed
  • Orthopedic surgery, often including implanting rods to support the long bones in arms or legs
  • Medications (bisphosphonates, teriparatide, calcium, vitamin D) to strengthen bones
  • Mobility aids such as canes, walkers, or wheelchairs and other equipment or aids for independence may be needed to compensate for weakness or short stature.

What is being done about OI?

Research continues to be done, but the clinical research community recognizes the need to push forward for more funding and a better framework for research. The OI Registry was established in 2005 as a place where people with can register and receive study announcements to participate in clinical research. The OI Registry paves the way for Linked Clinical Research Centers — a ground-breaking initiative sponsored by Osteogenesis Imperfecta Foundation to bring clinical data into one repository so that future generations may benefit from long-term observation of individuals.

  • Where can I find more information about OI?
  • Osteogenesis Imperfecta Foundation
  • National Institutes of Health: Medline Plus: Osteogenesis Imperfecta
  • Children’s Brittle Bone Society

Where can I find more information about OI?

Osteogenesis Imperfecta Foundation
National Institutes of Health: Medline Plus: Osteogenesis Imperfecta
Children’s Brittle Bone Society

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