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Diseases

Genetic and Rare Diseases Information Center (GARD)

Osteogenesis imperfecta type III


Other Names for this Disease
  • OI type 3
  • Osteogenesis imperfecta, progressively deforming with normal sclerae
  • OI type III
  • Progressive deforming osteogenesis imperfecta
  • Severe osteogenesis imperfecta
Related Diseases
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 type III (OI type III) is a form of osteogenesis imperfecta, a group of genetic conditions that primarily affect the bones. In OI type III, specifically, a diagnosis can often be made shortly after birth as fractures (broken bones) during the newborn period simply from handling the infant are common. Other signs and symptoms vary significantly from person to person but may include severe bone fragility, bone malformations, short stature, dental problems (dentinogenesis imperfect), macrocephaly (unusually large head), hearing loss, and blue sclerae (whites of the eyes). Most affected people are unable to walk without assistance.[1][2] OI type III is caused by changes (mutations) in the COL1A1 or COL1A2 genes and is inherited in an autosomal dominant manner.[1][3] Treatment is based on the signs and symptoms present in each person.[1][3]
Last updated: 3/24/2016

References

  1. Robert D Steiner, MD, Jessica Adsit, MS, CGC, and Donald Basel, MD. COL1A1/2-Related Osteogenesis Imperfecta. GeneReviews. February 2013; http://www.ncbi.nlm.nih.gov/books/NBK1295/#oi.Clinical_Description.
  2. Eric T Rush, MD, FAAP, FACMG. Genetics of Osteogenesis Imperfecta. Medscape Reference. February 2016; http://emedicine.medscape.com/article/947588-overview.
  3. OSTEOGENESIS IMPERFECTA, TYPE III. OMIM. December 2015; http://www.omim.org/entry/259420.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Osteogenesis imperfecta type III. 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) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
  • 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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

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.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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 type III. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • OI type 3
  • Osteogenesis imperfecta, progressively deforming with normal sclerae
  • OI type III
  • Progressive deforming osteogenesis imperfecta
  • Severe osteogenesis imperfecta
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.