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

Ollier disease


Other Names:
Dyschondroplasia; Enchondromatosis; Multiple cartilaginous enchondroses; Dyschondroplasia; Enchondromatosis; Multiple cartilaginous enchondroses; Multiple enchondromatosis See More
Categories:
Ollier disease is a skeletal disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths may lead to skeletal deformities, limb discrepancy, and fractures.[1][2][3][4] The enchondromas primarily occur in the limb bones, especially the bones of the hands and feet. They tend to develop near the ends of the bones, where growth occurs.[1][2][4] Symptoms often appear in the first decade of life. The underlying cause of Ollier disease is not fully understood.[5] In many people, the condition can be attributed to somatic mutations in the IDH1 or IDH2 gene. The disease is not typically inherited. Treatment is conservative in most cases, although surgery may be indicated in cases where complications (pathological fractures, growth defects, malignant transformation) arise.[4][5]
Last updated: 12/12/2016
The signs and symptoms in Ollier disease may be present at birth, but most often appear in the first decade of life. The first symptom may be the appearance of multiple bony masses (swellings) on a finger or a toe, an asymmetric shortening of an extremity with limping, or skeletal deformities which may be associated with an underlying fracture. Enchondromas typically occur in the limb bones, especially the bones of the hands and feet. Other bones that may be affected include the tibia, femur, fibula, humerus, pelvis, skull, ribs, and vertebrae.[1][5] 

The enchondromas may affect multiple bones and are usually asymmetrically distributed, exclusively or predominantly affecting one side of the body. Affected bones are often shortened and deformed. In some, bone shortening may be the only observable symptom. These bone shortenings are often associated with bone bending and curving, and may lead to limitations in joint mobility and muscle development.[1][5] 

In some cases, malignant transformation may occur.[1][5] Chondrosarcomas are the most common malignancy arising from Ollier disease; occurring in up to 25% of patients by age 40. Pain, increasing size, and thinning of the cortical bone may be signs of malignant transformation.[5] Individuals with Ollier disease may also be at an increased risk for cancers of the ovaries and liver.[1]

Last updated: 12/28/2016

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.

Showing of 19 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Micromelia
Smaller or shorter than typical limbs
0002983
Multiple enchondromatosis 0005701
Osteolysis
Breakdown of bone
0002797
Visceral angiomatosis 0100761
30%-79% of people have these symptoms
Bone pain 0002653
Joint stiffness
Stiff joint
Stiff joints
[ more ] 		0001387
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] 		0001482
5%-29% of people have these symptoms
Abnormality of coagulation 0001928
Anemia
Low number of red blood cells or hemoglobin
0001903
Chondrosarcoma 0006765
Lymphangioma 0100764
Platyspondyly
Flattened vertebrae
0000926
Precocious puberty
Early onset of puberty
Early puberty
[ more ] 		0000826
Skin ulcer
Open skin sore
0200042
Venous thrombosis
Blood clot in vein
0004936
Percent of people who have these symptoms is not available through HPO
Abnormality of long bone morphology
Abnormal shape of long bone
0011314
Autosomal dominant inheritance 0000006
Hemangioma
Strawberry mark
0001028
Showing of 19 |
Last updated: 7/1/2020
The cause of Ollier disease is not completely understood. Typically, Ollier disease is caused by mutations in one of three genes (PTH1R, IDH1, or IDH2). In  most cases, Ollier disease is not inherited from a parent. Instead, the genetic mutations that are causing the symptoms of Ollier disease occur during a person’s lifetime (somatic mutations) and are only present in some cells of the body. This is called mosaicism. The cells that have the mutation are the cells where the enchondromas develop.[1]

For  some people, Ollier disease  is inherited from a parent, and the gene mutation that is causing the disease is present in every cell of the body. In cases where Ollier disease is inherited, the disease may appear to skip a generation. Symptoms may be present in a grandparent, for example, but not in the parent of the affected child. This is called reduced penetrance because some people who have the mutation that causes Ollier disease do not have any symptoms.[6] 
Last updated: 12/26/2016
Ollier disease is typically diagnosed based on a clinical examination that matches symptoms of Ollier disease. This exam might include using CT scans, MRIs, or X-rays to view the bones more clearly.[2] Biopsies of the enchondromas are also used to look for features that are characteristic of Ollier disease.[5] 
Last updated: 12/26/2016
Treatment for Ollier disease depends on how much the enchondromas are impacting the physical abilities of the affected individual. In some cases, surgery or joint replacement might be an option to correct some of the enchondromas. However, sometimes surgery causes more enchondromas to develop, so doctors may choose to perform surgery only if absolutely necessary.[5] Other treatment options include physical therapy.[2] The goals of treatment are to relieve any pain caused by the enchondromas and to allow the affected individual to walk with a normal gait.[5]
Last updated: 12/26/2016
The long-term outlook (prognosis) of Ollier disease is difficult to assess as there can be quite a bit of variation in the size, number, location, and evolution of enchondromas. The ages of onset and diagnosis, and whether surgery is needed, can also affect the prognosis.[5][4] Overall, the prognosis is good, with most individuals expected to have a normal lifespan.[1]

Research has shown that patients with widely distributed enchondromas may have a better prognosis than patients with localized cartilaginous changes which may induce major shortening of a lower extremity and thus limb asymmetry. Similarly, early development of enchondromas in fingers may lead to major deformities. As is generally the case, forms with an early onset appear more severe.[5] After puberty, the enchondromas typically stabilize as cartilage is replaced by bone.[1]

The most significant factors regarding prognosis in Ollier disease are related to the complications, most notably pathologic fracture and the risk for malignant transformation (development of cancer).[1][5]
Last updated: 12/28/2016

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

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.

Social Networking Websites

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

  • Genetics Home Reference (GHR) contains information on Ollier disease. This website is maintained by the National Library of Medicine.
  • 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 Ollier disease. 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

  • As an individual with Ollier disease, I have had difficulty locating information regarding the prognosis of this condition. What are the symptoms? What are the chances of developing cancer or malignant growths? What type of follow-up do I need as I age? See answer


  1. Ollier disease. Genetics Home Reference (GHR). February 2016; https://ghr.nlm.nih.gov/condition/ollier-disease.
  2. Ollier Disease. National Organization for Rare Disorders (NORD). 2006; https://rarediseases.org/rare-diseases/ollier-disease/.
  3. Chew FS. Enchondroma and Enchondromatosis. Medscape. December 28, 2015; http://emedicine.medscape.com/article/389224-overview.
  4. Silve C, Juppner H. Ollier disease. Orphanet Journal of Rare Diseases. 2006; 1:37:http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-37.
  5. Kumar A, Jain VK, Bharadwaj M, Arya RK. Ollier Disease: Pathogenesis, Diagnosis, and Management.. Orthopedics. 2015 Jun; 38(6):e497-506. https://www.ncbi.nlm.nih.gov/pubmed/26091223.
  6. Enchondromatosis, Multiple, Ollier Type. Online Mendelian Inheritance in Man (OMIM). May 2, 2016; http://omim.org/entry/166000.