Osteogenesis Imperfecta

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Osteogenesis Imperfecta is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Brittle Bone Disease
  • Ekman-Lobstein Disease
  • Lobstein Disease (Type I)
  • OI
  • Vrolik Disease (Type II)

Disorder Subdivisions

  • Osteogenesis Imperfecta Type I
  • Osteogenesis Imperfecta Type II
  • Osteogenesis Imperfecta Type III
  • Osteogenesis Imperfecta Type IV

General Discussion

Osteogenesis Imperfecta (OI) is a group of rare disorders affecting the connective tissue and characterized by extremely fragile bones that break or fracture easily (brittle bones), often without apparent cause. The specific symptoms and physical findings associated with OI vary greatly from case to case. The severity of OI also varies greatly, even among individuals of the same family. OI may be a mild disorder or may result in severe complications. Four main types of OI have been identified. OI type I is the most common and the mildest form of the disorder. OI type II is the most severe. In most cases, the various forms of osteogenesis imperfecta are inherited as autosomal dominant traits.

Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Osteogenesis Imperfecta Foundation
804 W. Diamond Ave
Suite 210
Gaithersburg, MD 20878
USA
Tel: (301)947-0083
Fax: (301)947-0456
Tel: (800)981-2663
Email: bonelink@oif.org
Internet: http://www.oif.org

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
TDD: (301)565-2966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/Health_Info

Whyte, Michael P., M.D.
Metabolic Research Unit
Shriners' Hospital for Crippled Children
2001 S. Linbergh Blvd.
St. Louis, MO 63131
Tel: (314)532-3600

Canadian Osteogenesis Imperfecta Society
208 Ramona Blvd
Markham
Ontario, L3P 2K8
Canada
Tel: 905-294-5340
Email: rkhayes@ccat.on.ca
Internet: http://www.oif.org

Children's Brittle Bone Foundation
7701 95th St
Pleasant Prairie, WI 53158
Tel: (866)694-2223
Fax: (262)947-0724
Email: info@cbbf.org
Internet: http://www.cbbf.org

NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda, MD 20892
Tel: (301)496-5133
Fax: (301)496-7101
Internet: http://www.nichd.nih.gov/

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Sjældne Diagnoser / Rare Disorders Denmark
Frederiksholms Kanal 2, 3rd Floor
Copenhagen K, 1220
Denmark
Tel: 45 33 14 00 10
Fax: 45 33 14 55 09
Email: mail@sjaeldnediagnoser
Internet: http://www.raredisorders.dk

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Tel: (650)462-3143
Fax: (650)462-3144
Tel: (877)735-2929
Email: info@letthemhear.org
Internet: http://www.letthemhear.org

European Skeletal Dysplasia Network (ESDN)
Wellcome Trust Centre for Cell-Matrix Research
Faculty of Life Sciences
University of Manchester
Michael Smith Building, Oxford Road
Manchester, M13 9PT
UK
Tel: 44 161 275 5642
Fax: 44 161 275 5082
Email: info@esdn.org
Internet: http://www.esdn.org

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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