Osteopetrosis

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

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info@climb.org.uk
Internet: http://www.CLIMB.org.uk

Osteopetrosis Support Trust (UK)
37 Bristol Rd
Winterbourne, S Glos, Intl BS36 1RQ
United Kingdom
Tel: 44 0145 4852199
Email: info@ost.org.uk
Internet: http://www.ost.org.uk

Paget Foundation for Paget's Disease of Bone and Related Disorders
120 Wall Street
Suite 1602
New York, NY 10005
Tel: (212)509-5335
Fax: (212)509-8492
Tel: (800)237-2438
Email: pagetfdn@aol.com
Internet: http://www.paget.org

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
USA
Tel: 3014954484
Fax: 3017186366
Tel: 8772264267
TDD: 3015652966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov

NIH/Osteoporosis and Related Bone Diseases National Resource Center
1232 22nd Street NW
Washington, DC 20037-1292
USA
Tel: 2022230344
Fax: 2022932356
Tel: 8006242663
TDD: 2024664315
Email: niamsboneinfo@mail.nih.gov
Internet: http://www.osteo.org

Let Them Hear Foundation
1900 University Ave #101
East Palo Alto, CA 94303
Tel: (650)462-3143
Fax: (650)462-3143
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: hcsgroup@yahoo.com
Internet: http://www.hajdu-cheney.com

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

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: 1/4/2005
Copyright 1987, 1990, 1995, 1996, 1997, 1998, 1999, 2000, 2002, 2005 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: January 04, 2005

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