Fibrodysplasia Ossificans Progressiva

Common Name(s)

Fibrodysplasia Ossificans Progressiva

Fibrodysplasia ossificans progressiva (FOP) is a disorder in which skeletal muscle and connective tissue such as tendons and ligaments are gradually replaced by normal bone. Over time, extra-skeletal (heterotopic) bone encases the person with FOP in a second skeleton. When heterotopic bone grows across joints, movement is no longer possible. Attempts to surgically remove heterotopic bone result in explosive new bone growth.

People with FOP have a congenital malformation of the great toe called hallux valgus; the big toe is short and deviates toward the other toes. The toe malformation is bilateral and is noticeable at birth. FOP lesions typically appear in early childhood, and the disease progresses in a typical pattern, moving from the neck downwards, from back to front, and in the limbs from shoulders to elbows to wrists, and, somewhat later, from hips to knees to ankles.

Trauma such as a fall, or medical procedures like biopsies, injections, or dental work can trigger a flareup. Viral illness such as flu can also trigger a flareup. Flareups entail an area of inflammation, warmth, and skin redness that lasts for several days or up to several months. Flareups often but not always result in permanent bone growth in the affected area.

FOP occurs in about 1 in 1,600,000 births. About 800 people worldwide are known to have a diagnosis of FOP.

97% of FOP cases are caused by the same point mutation in the ACVR1 gene. This mutation is considered 100% penetrant. FOP is inherited in an autosomal dominant manner. Source: Genetics and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI, and International FOP Association www.ifopa.org

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

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

Induced pluripotent stem cells from patients with human fibrodysplasia ossificans progressiva show increased mineralization and cartilage formation.
 

Author(s): Yoshihisa Matsumoto, Yohei Hayashi, Christopher R Schlieve, Makoto Ikeya, Hannah Kim, Trieu D Nguyen, Salma Sami, Shiro Baba, Emilie Barruet, Akira Nasu, Isao Asaka, Takanobu Otsuka, Shinya Yamanaka, Bruce R Conklin, Junya Toguchida, Edward C Hsiao

Journal:

 

Abnormal activation of endochondral bone formation in soft tissues causes significant medical diseases associated with disability and pain. Hyperactive mutations in the bone morphogenetic protein (BMP) type 1 receptor ACVR1 lead to fibrodysplasia ossificans progressiva (FOP), a rare ...

Last Updated: 13 Jan 2014

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Perhexiline maleate in the treatment of fibrodysplasia ossificans progressiva: an open-labeled clinical trial.
 

Author(s): Hiroshi Kitoh, Masataka Achiwa, Hiroshi Kaneko, Kenichi Mishima, Masaki Matsushita, Izumi Kadono, John D Horowitz, Benedetta C Sallustio, Kinji Ohno, Naoki Ishiguro

Journal:

 

Currently, there are no effective medical treatment options to prevent the formation of heterotopic bones in fibrodysplasia ossificans progressiva (FOP). By the drug repositioning strategy, we confirmed that perhexiline maleate (Pex) potentially ameliorates heterotopic ossification ...

Last Updated: 16 Jan 2014

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Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva.
 

Author(s): Francesca Giacopelli, Serena Cappato, Laura Tonachini, Marzia Mura, Simona Di Lascio, Diego Fornasari, Roberto Ravazzolo, Renata Bocciardi

Journal:

 

The ACVR1 gene encodes a type I receptor for bone morphogenetic proteins (BMPs). Mutations in the ACVR1 gene are associated with Fibrodysplasia Ossificans Progressiva (FOP), a rare and extremely disabling disorder characterized by congenital malformation of the great toes and progressive ...

Last Updated: 15 Nov 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

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

Status: Recruiting

Condition Summary: Fibrodysplasia Ossificans Progressiva

 

Last Updated: 12 Aug 2014

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Urine Sample Collection From FOP Patients
 

Status: Recruiting

Condition Summary: Fibrodysplasia Ossificans Progressiva

 

Last Updated: 27 May 2014

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