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Disease Profile
Fibrous dysplasia
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.
Unknown
Age of onset
Adolescent
ICD-10
Q78.1
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)
Fibrous dysplasia of bone
Categories
Congenital and Genetic Diseases
Summary
Fibrous dysplasia is a skeletal disorder that is characterized by the replacement of normal bone with fibrous bone
Symptoms
In rare cases, fibrous dysplasia is associated with abnormalities in the
Cause
Treatment
- Fractures often require surgery, but can sometimes be treated with casting or splints.[1][3] Surgery is most appropriate in cases where fractures are likely to occur, or where bones have become misshapen. Surgery may also be used to relieve pain.
- Medications known as bisphosphonates are also used to relieve bone pain.[1][3][4]
- Other healthy strategies such as physical activity and adequate intake of calcium, phosphorus, and vitamin D are also encouraged.[1]
Careful, long-term follow-up to monitor fibrous dysplasia is advised.
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
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Differential diagnoses includes osteofibrous dysplasia, osteochondroma, exostosis, osteosarcoma, chondrosarcoma, osteofibroma, skull meningioma, osteoma
Visit the Orphanet disease page for more information.
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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
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FD/MAS Alliance
2885 Sanford Ave. SW #40754
Grandville, MI 49418
Website: https://fdmasalliance.org/
contact form: https://fdmasalliance.org/contact-us/ -
The MAGIC Foundation
4200 Cantera Dr. #106
Warrenville, IL 60555
Toll-free: 800-362-4423
Telephone: 630-836-8200
Fax: 630-836-8181
E-mail: [email protected]
Website: https://www.magicfoundation.org/
Organizations Providing General Support
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The Limb Preservation Foundation
925 S Niagara Street
Suite 610
Denver, CO 80224
Telephone: (303) 429-0688
E-mail: [email protected]
Website: https://limbpreservation.org/
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
- The Children's Hospital Boston's Web site has an information page on this topic. Click on the link above to view this information page.
- The MayoClinic.com Web site has an information page on fibrous dysplasia. Click on MayoClinic.com to view the information page.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about 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.
- The Osteoporosis and Related Bone Diseases ~ National Resource Center provides patients, health professionals, and the public with an important link to resources and information on metabolic bone diseases, including osteoporosis, Paget's disease of the bone, osteogenesis imperfecta, and hyperparathyroidism. Contact them directly by calling toll-free at 800-624-2663 or by e-mail at [email protected]
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- 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.
- 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 Fibrous dysplasia. Click on the link to view a sample search on this topic.
References
- Fibrous Dysplasia Overview. NIH Osteoporosis and Related Bone Diseases National Resource Center. June 2015; https://www.niams.nih.gov/Health_Info/Bone/Additional_Bone_Topics/fibrous_dysplasia.asp.
- Kaneshiro NK, Zieve D. Fibrous dysplasia. MedlinePlus. December 4, 2013; https://www.nlm.nih.gov/medlineplus/ency/article/001234.htm.
- Fibrous Dysplasia in Children. Boston Children's Hospital. https://www.childrenshospital.org/conditions-and-treatments/conditions/fibrous-dysplasia.
- Fibrous Dysplasia. MayoClinic.com. July 8, 2014; https://www.mayoclinic.org/diseases-conditions/fibrous-dysplasia/basics/symptoms/con-20032196?p=1.
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