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"Resources" on this report.
Copyright 1987, 1990, 1995, 1996, 1997, 1998, 1999, 2000, 2002, 2005
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.
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Organizations related to Osteopetrosis
- CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe Intl CW2 6BG
Phone #: 084-5 2-41 2174
800 #: 080-0 6-52 3181
e-mail: info.svcs@climb.org.uk
Home page: http://www.CLIMB.org.uk
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- Hajdu-Cheney Support Group
1301 Amelia Avenue
Portsmouth VA 23707
Phone #: 757-465-8169
800 #: N/A
e-mail: hcsupport@cox.net
Home page: http://www.hajdu-cheney.com
- Let Them Hear Foundation
1900 University Avenue, Suite 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
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
- 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
Suite 1602
New York NY 10005
Phone #: 212-509-5335
800 #: 800-237-2438
e-mail: pagetfdn@aol.com
Home page: http://www.paget.org
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