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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

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

Internet: http://www.CLIMB.org.uk



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

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)462-3174

Fax: (650)462-3144

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 MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

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.

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