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It is possible that the main title of the report Osteopetrosis is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Osteopetrosis may be inherited as either a dominant or recessive trait and is marked by increased bone density, brittle bones, and, in some cases, skeletal abnormalities. Although symptoms may not initially be apparent in people with mild forms of this disorder, trivial injuries may cause bone fractures due to abnormalities of the bone.

There are three major types of osteopetrosis: the malignant infantile form, the intermediate form, and the adult form. The adult form is milder than the other forms, and may not be diagnosed until adolescence or adulthood when symptoms first appear. The intermediate form, found in children younger than ten years old, is more severe than the adult form but less severe than the malignant infantile form. The malignant infantile form is apparent from birth and frequently shortens life expectancy. It is not related to cancer, despite the name.

Supporting Organizations

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174
Email: enquiries@climb.org.uk
Website: http://www.CLIMB.org.uk

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
Website: http://rarediseases.info.nih.gov/GARD/

Hajdu-Cheney Support Group

1301 Amelia Avenue
Portsmouth, VA 23707
Tel: (757)465-8169
Email: hcsupport@cox.net
Website: http://www.hajdu-cheney.com

Let Them Hear Foundation

1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Tel: (650)462-3174
Fax: (650)462-3144
Email: info@letthemhear.org
Website: http://www.letthemhear.org

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
Email: NIAMSinfo@mail.nih.gov
Website: http://www.niams.nih.gov/

NIH/Osteoporosis and Related Bone Diseases National Resource Center

2 AMS Circle
Bethesda, MD 20892-3676
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
Email: NIHBoneInfo@mail.nih.gov
Website: http://www.bones.nih.gov

Paget Foundation

P O Box 24432
Brooklyn, NY 11202
Tel: (212)509-5335
Fax: (212)509-8492
Tel: (800)237-2438
Email: pagetfdn@aol.com
Website: http://nbha.org/members/paget-foundation-pagets-disease-bone-and-related-disorders

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  5/4/2008
Copyright  2005 National Organization for Rare Disorders, Inc.