National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Fibrous dysplasia

Información en español


Other Names:
Fibrous dysplasia of bone
Categories:
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] 
Last updated: 6/30/2017
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]

Last updated: 6/30/2017
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]
Last updated: 6/30/2017
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.

Last updated: 6/30/2017

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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 diagnoses includes osteofibrous dysplasia, osteochondroma, exostosis, osteosarcoma, chondrosarcoma, osteofibroma, skull meningioma, osteoma
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Fibrous dysplasia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Fibrous dysplasia. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Fibrous dysplasia:
    The Fibrous Dysplasia/McCune-Albright Syndrome Patient Registry
     

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

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I am interested in reading the most up-to-date research on the use of bisphosphonate therapy in treating adult PFD. What I have found in my search so far is that while it does seem to treat pain associated with PFD, it doesn't actually stop the progression of the condition.  Also, I understand that long-term (over 3 years) use of bisphosphonates actually makes bones subject to fracture.  So I was just looking for some answers. See answer

  • My one year old daughter has been diagnosed with fibrous dysplasia (FD). FD has been found on her left leg in both her tibia and fibula bones. Is there any cure for this condition? See answer

  • I would like to learn more about fibrous dysplasia, particularly of the skull. Can you help? See answer


  1. Fibrous Dysplasia Overview. NIH Osteoporosis and Related Bone Diseases National Resource Center. June 2015; http://www.niams.nih.gov/Health_Info/Bone/Additional_Bone_Topics/fibrous_dysplasia.asp.
  2. Kaneshiro NK, Zieve D. Fibrous dysplasia. MedlinePlus. December 4, 2013; http://www.nlm.nih.gov/medlineplus/ency/article/001234.htm.
  3. Fibrous Dysplasia in Children. Boston Children's Hospital. http://www.childrenshospital.org/conditions-and-treatments/conditions/fibrous-dysplasia.
  4. Fibrous Dysplasia. MayoClinic.com. July 8, 2014; http://www.mayoclinic.org/diseases-conditions/fibrous-dysplasia/basics/symptoms/con-20032196?p=1.