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Disease Profile

Fibrous dysplasia

Prevalence
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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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 tissue. It may involve one bone (monostotic) or multiple bones (polyostotic).[1][2] Fibrous dysplasia can affect any bone in the body. The most common sites are the bones in the skull and face, the long bones in the arms and legs, the pelvis, and the ribs.[1] Though many people with this disorder do not have any symptoms, others may have bone pain, abnormally shaped bones (deformities), or an increased risk of fractures (broken bones). The problems a person experiences depend on which bones are affected, and may arise from compression and displacement of adjacent structures to the lesions. For example, the legs can be of different lengths, leading to a limp, the bones of the sinuses can be affected, leading to chronic sinus congestion or headache.[1][2] This condition can occur alone or as part of a genetic disorder, such as McCune-Albright syndrome.[1] While there is no cure for fibrous dysplasia, the symptoms can be treated. Medications known as bisphosphonates can reduce pain and surgery may be used to treat fractures or to correct misshapen bones.[1][2]

Symptoms

Fibrous dysplasia may cause no symptoms, mild symptoms, or severe symptoms.[3][4] The most common symptoms are bone pain, bone deformities, fractures, and skin pigmentation differences (light brown spots on the skin).[1][2][3][4] The problems that a person experiences depend on the specific bone(s) affected. For example, if the legs are of different lengths, they might limp when they walk. If the bones in the sinuses are affected, chronic sinus congestion may be a present.[1]

In rare cases, fibrous dysplasia is associated with abnormalities in the hormone-producing glands of the endocrine system. This may lead to precocious puberty, hyperthyroidism (excess thyroid hormone production), excess growth hormone (gigantism or acromegaly), and/or excess cortisol production (Cushing syndrome).[1][2][3][4] If the face or skull bones are affected, hearing or vision loss may occur.[1]

Cause

The cause of fibrous dysplasia has been linked to a gene mutation that occurs after conception, in the early stages of fetal development. The mutation involves a gene that affects the cells that produce bone. People with fibrous dysplasia carry this mutation in some, but not all cells of their body. It is not well understood why the mutation occurs, but it is not inherited from a parent, nor can it be passed on from parents to children.[1][4]

Treatment

Unfortunately, there is no cure for fibrous dysplasia.[1][2] Treatment depends on the symptoms present.

  • 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] 

Radiation therapy is not recommended for patients with fibrous dysplasia because it is associated with an increased risk of cancerous transformation.[1][3][4]

Careful, long-term follow-up to monitor fibrous dysplasia is advised.

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

    Organizations Providing General Support

      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 NIAMSBoneInfo@mail.nih.gov

        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

          1. 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.
          2. Kaneshiro NK, Zieve D. Fibrous dysplasia. MedlinePlus. December 4, 2013; https://www.nlm.nih.gov/medlineplus/ency/article/001234.htm.
          3. Fibrous Dysplasia in Children. Boston Children's Hospital. https://www.childrenshospital.org/conditions-and-treatments/conditions/fibrous-dysplasia.
          4. 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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