Fibrodysplasia Ossificans Progressiva (FOP) / Disease

Diseases & Conditions

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Fibrodysplasia Ossificans Progressiva (FOP)

Synonyms of Fibrodysplasia Ossificans Progressiva (FOP)

FOP
Myositis Ossificans Progressiva

Disorder Subdivisions

General Discussion
Fibrodysplasia ossificans progressiva (FOP) is a very rare inherited connective tissue disorder characterized by the abnormal development of bone in areas of the body where bone is not normally present (heterotopic ossification), such as the ligaments, tendons, and muscles. Specifically, this disorder causes the body?s skeletal muscles and soft connective tissue to undergo a metamorphosis, essentially a transformation into bone, progressively locking joints in place and making movement difficult or impossible. FOP is characterized by malformation of the big toe that is present at birth (congenital). As the disease progresses, there may be other skeletal malformations and the abnormal development of bone may lead to stiffness in affected areas and limited movement in affected joints (e.g.,knees, wrists, shoulders, spine, and/or neck).

Fibrodysplasia ossificans progressiva usually begins during early childhood and progresses throughout life. Most cases of FOP occur as the result of a sporadic new mutation. The genetic mutation that results in this disorder has been identified. FOP is caused by the mutation of a gene in the BMP pathway, which is associated with the formation of the skeleton in the embryo and the repair of the skeleton following birth.

Organizations related to Fibrodysplasia Ossificans Progressiva (FOP)

Fundaci?n FOP
Bonpland 1964- Dto 3 PA (1414) Ciudad Aut?noma
Buenos Aires None None
Phone #: 54--911--15-4145-5391
800 #: N/A
e-mail: [email protected]
Home page: http://www.fundacionfop.org.ar
International Fibrodysplasia Ossificans Progressiva Association
P.O. Box 196217
Winter Springs FL 32719-6217
Phone #: 407-365-4194
800 #: --
e-mail: [email protected]
Home page: http://www.ifopa.org
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: [email protected]
Home page: http://www.netnet.net/mums/
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-428-7100
800 #: 888-663-4637
e-mail: [email protected]
Home page: http://www.marchofdimes.com
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: [email protected]
Home page: http://www.niams.nih.gov/Health_Info
UCSF Fibrodysplasia Ossificans Progressiva Clinic
533 Parnassus Avenue
San Francisco CA 94143
Phone #: 415-476-7242
800 #: 888-689-8273
e-mail: [email protected]
Home page: http://www.ucsfhealth.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