Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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