Fibrodysplasia ossificans progressiva

Common Name(s)

Fibrodysplasia ossificans progressiva, FOP, Myositis ossificans progressiva

Fibrodysplasia ossificans progressiva (FOP) is a genetic disorder that causes the development of bone where other muscle or other soft tissue is normally present. The tissues affected include muscle, tendons, ligaments, and other connective tissue. This bone formation is often painful and limits the range of motion in the affected area. The disorder is sometimes called “stone man syndrome” because bone growth over joints will severely limit movement, eventually imprisoning the body in bone.

While the first formation of extra bone may not occur until after age 10, a common symptom of children born with FOP is the presence of big toe deformities. The initial symptoms of FOP occur early in life and include swelling and inflammation of the shoulders and back, which eventually resolves but leaves behind new bone. Young children with FOP often do not crawl because of limited mobility in their joints. The symptoms of pain and loss of mobility become worse as the affected individuals ages, although the timeframe for new bone formation is different for each patient. By late stages of FOP, the skeleton becomes fused into one piece by the growth of new bone. Movement becomes impossible because joints are replaced by solid bone.

FOP is caused by a change (mutation) on a specific gene inherited from both parents. Because the disease is so rare, the symptoms may be misdiagnosed as more common diseases, such as myositis ossificans traumatic or other inflammatory diseases or movement disorders. Without proper diagnosis, affected individuals who undergo surgery are at risk of worsening their symptoms.

There is currently no known cures for FOP, and treatments focus on reducing the symptoms. Surgical removal of the excess bone often causes more bone formation, worsening the prognosis for the patient. Medications may be used to decrease inflammation and pain. If you are suffering from FOP, talk to your doctor about the most current treatment options.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fibrodysplasia ossificans progressiva" for support, advocacy or research.

International FOP Association

Fund research to find a cure for FOP while supporting individuals and their families through education, public awareness and advocacy.

Last Updated: 30 Apr 2014

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fibrodysplasia ossificans progressiva" for support, advocacy or research.

International FOP Association

Fund research to find a cure for FOP while supporting individuals and their families through education, public awareness and advocacy.

http://www.ifopa.org

Last Updated: 30 Apr 2014

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fibrodysplasia ossificans progressiva" returned 74 free, full-text research articles on human participants. First 3 results:

Neofunction of ACVR1 in fibrodysplasia ossificans progressiva.
 

Author(s): Kyosuke Hino, Makoto Ikeya, Kazuhiko Horigome, Yoshihisa Matsumoto, Hayao Ebise, Megumi Nishio, Kazuya Sekiguchi, Mitsuaki Shibata, Sanae Nagata, Shuichi Matsuda, Junya Toguchida

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2015 Dec;112(50):15438-43.

 

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized by extraskeletal bone formation through endochondral ossification. FOP patients harbor point mutations in ACVR1 (also known as ALK2), a type I receptor for bone morphogenetic protein (BMP). Two mechanisms ...

Last Updated: 16 Dec 2015

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Fibrodysplasia ossificans progressiva: a case report.
 

Author(s): Merih Önal, M Demir Bajin, Taner Yılmaz

Journal: Turk. J. Pediatr.. ;56(5):561-4.

 

Fibrodysplasia ossificans progressiva (FOP) is a rare, severely disabling, autosomal dominant disease characterized by recurrent painful episodes of soft tissue swelling and the development of heterotopic ossification. The main target is the axial musculature, but eventually ectopic ...

Last Updated: 29 May 2015

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Fibrodysplasia ossificans progressiva misdiagnosed as cervical exostosis.
 

Author(s): Muhammad Awais, Abdul Rehman, Noor Ul-Ain Baloch

Journal: Intern. Med.. 2015 ;54(7):867-8.

 

Last Updated: 2 Apr 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fibrodysplasia ossificans progressiva" returned 11 free, full-text review articles on human participants. First 3 results:

Cellular and morphological aspects of fibrodysplasia ossificans progressiva. Lessons of formation, repair, and bone bioengineering.
 

Author(s): Anderson Martelli, Arnaldo Rodrigues Santos

Journal: Organogenesis. 2014 ;10(3):303-11.

 

Fibrodysplasia ossificans progressiva (FOP) is a rare congenital disease that causes bone formation within the muscles, tendons, ligaments and connective tissues. There is no cure for this disorder and only treatment of the symptoms is available. The purpose of this study was to review ...

Last Updated: 22 Jan 2015

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Fibrodysplasia ossificans progressiva: diagnosis, management, and therapeutic horizons.
 

Author(s): Robert J Pignolo, Eileen M Shore, Frederick S Kaplan

Journal: Pediatr Endocrinol Rev. 2013 Jun;10 Suppl 2():437-48.

 

Fibrodysplasia ossificans progressiva (FOP), a rare and disabling genetic condition characterized by congenital malformations of the great toes and progressive heterotopic endochondral ossification (HEO) which is the most catastrophic of HEO disorders in humans. Flare-ups of FOP are ...

Last Updated: 17 Jul 2013

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Genetic abnormalities in fibrodysplasia ossificans progressiva.
 

Author(s): Jinglei Miao, Chaoyue Zhang, Song Wu, Zhi Peng, Mousumi Tania

Journal: Genes Genet. Syst.. 2012 ;87(4):213-9.

 

Fibrodysplasia ossificans progressiva (FOP), characterized by congenital malformation of bones, is an autosomal dominant disorder. This is a rare genetic disorder and its worldwide prevalence is approximately 1/2,000,000. There is no ethnic, racial, gender, or geographic predilection ...

Last Updated: 11 Dec 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

The Fibrodysplasia Ossificans Progressiva (FOP) Connection Registry
 

Status: Recruiting

Condition Summary: Fibrodysplasia Ossificans Progressiva (FOP)

 

Last Updated: 15 Apr 2016

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In-Home Evaluation of Episodic Administration of Palovarotene in Fibrodysplasia Ossificans Progressiva (FOP) Subjects
 

Status: Recruiting

Condition Summary: Fibrodysplasia Ossificans Progressiva

 

Last Updated: 7 Jun 2016

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A Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP)
 

Status: Recruiting

Condition Summary: Fibrodysplasia Ossificans Progressiva

 

Last Updated: 28 Jun 2016

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