Osteopetrosis

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Osteopetrosis 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

  • Albers-Schonberg Disease
  • Marble Bones
  • Osteosclerosis Fragilis Generalisata

Disorder Subdivisions

  • Osteopetrosis, autosomal recessive; malignant infantile type
  • Osteopetrosis, autosomal dominant; adult type
  • Osteopetrosis, mild autosomal recessive; intermediate type

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.

Resources

Children Living with Inherited Metabolic Diseases (CLIMB)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: 0845 241 2174
Tel: 800 652 3181
Email: info.svcs@climb.org.uk
Internet: http://www.CLIMB.org.uk

Paget Foundation
120 Wall Street
Suite 1602
New York, NY 10005-4035
Tel: (212)509-5335
Fax: (212)509-8492
Tel: (800)237-2438
Email: pagetfdn@aol.com
Internet: http://www.paget.org

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
Information Clearinghouse
One 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/

NIH/Osteoporosis and Related Bone Diseases National Resource Center
2 AMS Circle
Bethesda, MD 20892-3676
USA
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
TDD: (301)565-2966
Email: NIHBoneInfo@mail.nih.gov
Internet: http://www.bones.nih.gov

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

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

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

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  5/4/2008
Copyright  1987, 1990, 1995, 1996, 1997, 1998, 1999, 2000, 2002, 2005 National Organization for Rare Disorders, Inc.

This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. How this information was developed to help you make better health decisions.

Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.

Decision Points

Our interactive Decision Points guide you through making key health decisions by combining medical information with your personal information.

You'll find Decision Points to help you answer questions about:

Interactive Tools

Get started learning more about your health!

Our Interactive Tools can help you make smart decisions for a healthier life. You'll find personal calculators and tools for health and fitness, lifestyle checkups, and pregnancy.

Symptom Checker

Feeling under the weather?

Use our interactive symptom checker to evaluate your symptoms and determine appropriate action or treatment.

Symptom Checker