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Osteogenesis Imperfecta

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Osteogenesis Imperfecta (OI) is a heritable systemic disorder of bone and connective tissue characterized by bone fragility leading to skeletal deformities in more severe cases, blue sclerae, hearing loss, and short stature

Incidence and Prevalence

Osteogenesis Imperfecta occurs equally in men and women and across all races and ethnicities. There are approximately 25,000 to 50,000 individuals in the United States living with OI which equates to about 1case/10,000 live births.


“OI is caused by genetic defects that affect the body’s ability to make strong bones”[1]. Most cases of OI involve a dominant gene which means only 1 parent has to have a copy of the gene in order for the child to have OI. The other cases involve a recessive form of the disease which means both parents must have a copy of the gene in order for the child to have OI. It should be noted that just because the parent(s) carry the gene their child is not guaranteed to have the disease.

Signs and Symptoms

  • Fragile bones
  • Blue sclera
  • Excessive perspiration
  • Loose joints
  • Early hearing loss
  • Brittle teeth
  • Respiratory problems
  • Easy bruising
  • Thin, smooth skin[2]

Medical Management

Diagnostic Tests

There a variety of tests that can be used to determine whether an individual has OI. The first is a DNA and Protein based test. This test uses blood or saliva and can detect dominant forms of OI caused by a genetic mutation. There is also a DNA test with a blood sample which is used to determine recessive forms of OI. It should be noted though that a negative test result doesn’t rule out a diagnosis of OI it just requires the use of another test. Blood and urine tests can be conducted to rule out other conditions with similar presentations and ultrasound can be done, usually prenatally, to detect bowing, fractures, shortening and other bone conditions that may lead one to suspect OI.


There is no cure for OI but it can be treated by managing fractures, increasing bone strength and active physical rehabilitation to promote movement and independence. Short term immobilization with orthoses is used to treat fractures as they occur and prevent future fractures. Many orthoses can be used for immobilization such as hip-knee-ankle-foot-orthosis (HKAFO), ankle-foot-orthosis (AFO) and standing frames.


The prognosis for Osteogenesis Imperfecta varies based on the type and complications associated with the disease. It has been shown that early management and intervention increases the chance of positive outcomes in this population.



  • [1]National Institute of Health Osteoporosis and Related Bone Diseases ~ National Resource Center. (2007, November). Guide to Osteogenesis Imperfecta For Pediatricians and Family Practice Physicians. (F. Glorieux, Ed.) Bethesda, Maryland, USA.
  • [2]Osteogenesis Imperfecta Foundation. (2006, December). Osteogenesis Imperfecta: A Guide for Medical Professionals, Individuals, and Families Affected by OI. Gaithersburg, Maryland
  • Goodman, C. C., & Fuller, K. S. (2009). Pathology Implications for the Physical Therapist (Third ed.). St. Louis, Missouri: Saunders Elsevier.
  • Martin, E., & Shapiro, J. R. (2007). Osteogenesis Imperfecta Epidemiology and Pathophysiology. Baltimore, Maryland: Current Medicine Group LLC.
  • M.D., R. B. (1999). Textbook of Disorders and Injuries of the Musculoskeletal System (third ed.). Baltimore, Maryland: Lippincott Williams & Wilkins.