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Diseases

Genetic and Rare Diseases Information Center (GARD)

Osteogenesis imperfecta


Other Names for this Disease
  • OI
  • Brittle bone disease
  • Vrolik disease
  • Fragilitas ossium
  • Lobstein disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. People with this condition have bones that break easily, often from little or no trauma. Severity varies among affected people. Multiple fractures are common, and in severe cases, can even occur before birth. Milder cases may involve only a few fractures over a person's lifetime. People with OI also have dental problems (dentinogenesis imperfecta) and hearing loss in adulthood. Other features may include muscle weakness, loose joints, and skeletal malformations.[1][2] There are various recognized forms of OI which are distinguished by their features and genetic causes.[3] Depending on the genetic cause, OI may be inherited in an autosomal dominant (more commonly) or autosomal recessive manner. Treatment is supportive and aims to decrease the number of fractures and disabilities.[1][2]
Last updated: 10/6/2015

References

  1. Osteogenesis imperfecta. Genetics Home Reference. April, 2013; http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta.
  2. Learning About Osteogenesis Imperfecta. NHGRI. August 15, 2012; http://www.genome.gov/25521839.
  3. John F Beary, III and Arkadi A Chines. Osteogenesis imperfecta: Clinical features and diagnosis. UpToDate. Waltham, MA: UpToDate; September, 2015;
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Basic Information

  • Genetics Home Reference (GHR) contains information on Osteogenesis imperfecta. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
  • The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Osteogenesis imperfecta. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • OI
  • Brittle bone disease
  • Vrolik disease
  • Fragilitas ossium
  • Lobstein disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.