Fibrodysplasia Ossificans Progressiva

Common Name(s)

Fibrodysplasia Ossificans Progressiva, FOP, Myositis ossificans progressiva

"Fibrodysplasia ossificans progressiva (FOP) is a disorder in which muscle and connective tissue, such as tendons and ligaments, are gradually replaced by bone (ossified). This condition leads to bone formation outside the skeleton (extra-skeletal or heterotopic bone) which constrains movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and moving down the body and into the limbs.  People with FOP are generally born with abnormally big toes which can be helpful in clarifying the diagnosis.

Trauma to the muscles of an individual with FOP, such as a fall or invasive medical procedure, or a viral illness may trigger episodes of muscle swelling and inflammation (myositis) followed by more rapid bone growth in the injured area.

FOP can be caused by mutations in the ACVR1 gene and is inherited in an autosomal dominant manner.
 

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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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

View Details

 

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 54 free, full-text research articles on human participants. First 3 results:

Clinical, evolution and therapeutical considerations upon a case of fibrodysplasia ossificans progressiva (FOP).
 

Author(s): O Rogoveanu, R Traistaru, C T Streba, Z Stoica, R Popescu

Journal: J Med Life. 2013 ;6(4):454-8.

 

Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant genetic transmitted disease, with a rare incidence (1-2 cases/million persons) and it usually affects female patients. Its manifestations include acute pain episodes that tend to repeat, involving the soft tissue ...

Last Updated: 28 May 2014

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Fibrodysplasia ossificans progressiva-related activated activin-like kinase signaling enhances osteoclast formation during heterotopic ossification in muscle tissues.
 

Author(s): Masato Yano, Naoyuki Kawao, Katsumi Okumoto, Yukinori Tamura, Kiyotaka Okada, Hiroshi Kaji

Journal: J. Biol. Chem.. 2014 Jun;289(24):16966-77.

 

Fibrodysplasia ossificans progressiva is characterized by extensive ossification within muscle tissues, and its molecular pathogenesis is responsible for the constitutively activating mutation (R206H) of the bone morphogenetic protein type 1 receptor, activin-like kinase 2 (ALK2). ...

Last Updated: 29 Jul 2014

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Fibrodysplasia ossificans progressiva: a case report.
 

Author(s): Anoop C Dhamangaonkar, Akhil A Tawari, Arvind B Goregaonkar

Journal: J Orthop Surg (Hong Kong). 2013 Dec;21(3):383-6.

 

Fibrodysplasia ossificans progressiva or myositis ossificans is a rare disease characterised by bony deposits or the ossification of soft tissues. It transforms skeletal muscles, tendons, ligaments, fascia, and aponeuroses into heterotopic bony deposits through an endochondral process. ...

Last Updated: 24 Dec 2013

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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 9 free, full-text review articles on human participants. First 3 results:

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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Fibrodysplasia ossificans progressiva: mechanisms and models of skeletal metamorphosis.
 

Author(s): Frederick S Kaplan, Salin A Chakkalakal, Eileen M Shore

Journal: Dis Model Mech. 2012 Nov;5(6):756-62.

 

Fibrodysplasia ossificans progressiva (FOP; MIM #135100) is a debilitating genetic disorder of connective tissue metamorphosis. It is characterized by malformation of the great (big) toes during embryonic skeletal development and by progressive heterotopic endochondral ossification ...

Last Updated: 1 Nov 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

A Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP)
 

Status: Recruiting

Condition Summary: Fibrodysplasia Ossificans Progressiva

 

Last Updated: 10 Jul 2015

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An Open-Label Extension Study of Palovarotene to Treat Preosseous Flare-ups in FOP Subjects
 

Status: Recruiting

Condition Summary: Fibrodysplasia Ossificans Progressiva

 

Last Updated: 24 Jun 2015

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An Efficacy and Safety Study of Palovarotene to Treat Preosseous Flare-ups in FOP Subjects
 

Status: Recruiting

Condition Summary: Fibrodysplasia Ossificans Progressiva

 

Last Updated: 24 Jun 2015

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