Osteopetrosis

Content provided by National Organization for Rare Disorders

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/Health_Info



NIH/Osteoporosis and Related Bone Diseases - National Resource Center

2 AMS Circle

Bethesda, MD 20892-3676

USA

Tel: 2022230344

Fax: 2022932356

Tel: 8006242663

TDD: 2024664315

Email: niamsboneinfo@mail.nih.gov

Internet: http://www.niams.nih.gov/Health_Info/Bone/



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:  5/4/2008

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Last updated:	May 04, 2008