Osteopetrosis / Disease

Diseases & Conditions

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Osteopetrosis

Synonyms of Osteopetrosis

Albers-Schonberg Disease
Marble Bones
Osteosclerosis Fragilis Generalisata

Disorder Subdivisions

Osteopetrosis, autosomal dominant; adult type
Osteopetrosis, autosomal recessive; malignant infantile 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.

Organizations related to Osteopetrosis

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
Crewe Intl CW2 6BG
Phone #: +44- 87-0 7700 325
800 #: --
e-mail: info@climb.org.uk
Home page: http://www.CLIMB.org.uk
Hajdu-Cheney Support Group
1301 Amelia Avenue
Portsmouth VA 23707
Phone #: 757-465-8169
800 #: N/A
e-mail: hcsgroup@yahoo.com
Home page: http://www.hajdu-cheney.com
Let Them Hear Foundation
1900 University Ave #101
East Palo Alto CA 94303
Phone #: 650-462-3143
800 #: 877-735-2929
e-mail: info@letthemhear.org
Home page: http://www.letthemhear.org
NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda MD 20892-3675
Phone #: 301-495-4484
800 #: 877-226-4267
e-mail: NIAMSinfo@mail.nih.gov
Home page: http://www.niams.nih.gov/Health_Info
NIH/Osteoporosis and Related Bone Diseases - National Resource Center
2 AMS Circle
Bethesda MD 20892-3676
Phone #: 202-223-0344
800 #: 800-624-2663
e-mail: niamsboneinfo@mail.nih.gov
Home page: http://www.niams.nih.gov/Health_Info/Bone/
Osteopetrosis Support Trust (UK)
37 Bristol Rd
Winterbourne, S Glos Intl BS36 1RQ
Phone #: 44 -014-5 4852199
800 #: --
e-mail: info@ost.org.uk
Home page: http://www.ost.org.uk
Paget Foundation for Paget's Disease of Bone and Related Disorders
120 Wall Street
New York NY 10005
Phone #: 212-509-5335
800 #: 800-237-2438
e-mail: pagetfdn@aol.com
Home page: http://www.paget.org

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