Fibrodysplasia Ossificans Progressiva (FOP)
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Fibrodysplasia Ossificans Progressiva (FOP) 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.
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.
International Fibrodysplasia Ossificans Progressiva Association
P.O. Box 196217
Winter Springs, FL 32719-6217
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
UCSF Fibrodysplasia Ossificans Progressiva Clinic
533 Parnassus Avenue
UC Hall U-504
San Francisco, CA 94143
Bonpland 1964- Dto 3 PA (1414) Ciudad Autónoma
For a Complete Report
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