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Disease Profile
Fibrodysplasia ossificans progressiva
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Childhood
ICD-10
M61.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
FOP; Myositis ossificans progressiva; Progressive myositis ossificans;
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases; Skin Diseases
Summary
Fibrodysplasia ossificans progressiva (FOP) is a disorder in which skeletal 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) that restricts 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 born with abnormal big toes (hallux valgus) which can be helpful in making the diagnosis. Trauma, such as a fall or invasive medical procedure, or a viral illness may trigger episodes of muscle swelling and inflammation (myositis). These flareups lasts for several days to months and often result in permanent bone growth in the injured area. FOP is almost always caused by a
Symptoms
The formation of extra-skeletal bone causes progressive loss of mobility as the joints become affected. Speaking and eating may also become difficult as the mouth becomes affected. Over time, people with FOP may become malnourished because of the inability to eat. They may also develop breathing difficulties as a result of extra bone formation around the rib cage that restricts expansion of the lungs.[1]
Any trauma to the muscles of an individual with FOP (a fall or an invasive medical procedure) may trigger episodes of muscle swelling and inflammation followed by more rapid ossification in the injured area. Flare-ups may also be caused by viral illnesses such as the flu.[1]
People with FOP are generally born with malformed big toes. This abnormality of the big toes is a characteristic feature that helps to distinguish this disorder from other bone and muscle problems. Affected individuals may also have short thumbs and other skeletal abnormalities.[1]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal vertebral morphology | 0003468 | |
Abnormality of the first metatarsal bone |
Abnormality of the 1st long bone of foot
|
0010054 |
Ectopic ossification in ligament tissue | 0011989 | |
Ectopic ossification in muscle tissue |
Calcification of muscle tissue
|
0011987 |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 |
Short hallux |
Short big toe
|
0010109 |
Spinal rigidity |
Reduced spine movement
|
0003306 |
Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] |
0001482 |
30%-79% of people have these symptoms | ||
Alopecia |
Hair loss
|
0001596 |
Aplasia/Hypoplasia of the phalanges of the hallux |
Absent/small big toe bone
Absent/underdeveloped big toe bone
[ more ] |
0010058 |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
5%-29% of people have these symptoms | ||
Low number of red blood cells or hemoglobin
|
0001903 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
0000501 | ||
Hallux valgus |
Bunion
|
0001822 |
Mental retardation
Mental deficiency
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
0001250 | ||
Synostosis of joints |
Fusion of joints
|
0100240 |
1%-4% of people have these symptoms | ||
Basal ganglia calcification | 0002135 | |
Intellectual disability, mild |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Broad femoral neck | 0006429 | |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
Ectopic ossification in tendon tissue | 0011988 | |
Hamartoma | 0010566 | |
Metaphyseal widening |
Broad wide portion of long bone
|
0003016 |
Progressive cervical vertebral spine fusion | 0008449 | |
Respiratory failure | 0002878 | |
0002650 | ||
Sensorineural hearing impairment | 0000407 | |
Short 1st metacarpal |
Shortened 1st long bone of hand
|
0010034 |
Small cervical vertebral bodies | 0004629 | |
Widely spaced teeth |
Wide-spaced teeth
Widely-spaced teeth
[ more ] |
0000687 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
Management Guidelines
- Emergency Medical Information/Treatment Guidelines
- Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnosis includes progressive osseous heteroplasia, osteosarcoma, lymphedema, soft tissue sarcoma, desmoid tumors (see these terms), aggressive juvenile fibromatosis, and non-hereditary (acquired) heterotopic ossification.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
International Fibrodysplasia Ossificans Progressiva Association
1520 Clay Street, Suite H2
North Kansas City, MO 64116
Telephone: 407-365-4194
Fax: 407-365-3213
E-mail: https://www.ifopa.org/about-the-ifopa/contact-us.html
Website: https://www.ifopa.org/ -
UCSF Fibrodysplasia Ossificans Progressiva Clinic
533 Parnassus Ave.
UC Hall U-504 Box 0734
San Francisco, CA 94143
Toll-free: 888-689-8273
Telephone: 415-476-7242
E-mail: [email protected]
Website: https://www.ucsfbenioffchildrens.org/conditions/fibrodysplasia_ossificans_progressiva/index.html
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Support guidebooks published by the International Fibrodysplasia Ossificans Progressiva Association contains information about research and treatment options, as well as articles by parents of affected children and adults with FOP offering insights into the condition.
- Genetics Home Reference (GHR) contains information on Fibrodysplasia ossificans progressiva. This website is maintained by the National Library of Medicine.
- The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Fibrodysplasia ossificans progressiva. Click on the link to view a sample search on this topic.
References
- Fibrodysplasia ossificans progressiva. Genetics Home Reference (GHR). August 2007; https://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva.
- FOP Fact Sheet. International Fibrodysplasia Ossificans Progressiva Association. https://www.ifopa.org/what-is-fop/overview.html. Accessed 6/5/2014.
- Pignolo R, Kaplan F. Pediatric Fibrodysplasia Ossificans Progressiva. E-medicine. July 30, 2009; https://emedicine.medscape.com/article/1007104-overview. Accessed 3/17/2011.
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