• Disease Overview
  • Synonyms
  • Signs & Symptoms
  • Causes
  • Affected Populations
  • Disorders with Similar Symptoms
  • Diagnosis
  • Standard Therapies
  • Clinical Trials and Studies
  • References
  • Programs & Resources
  • Complete Report

Ollier Disease


Last updated: February 25, 2020
Years published: 1987, 1989, 1995, 1998, 2001, 2006, 2020


NORD gratefully acknowledges Harjot Randhawa, MD, American University of Integrative Sciences, School of Medicine, and Nara Sobreira, MD, PhD, Assistant Professor of Pediatrics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, for assistance in the preparation of this report.

Disease Overview


Ollier disease is a rare skeletal disorder characterized by abnormal bone development (skeletal dysplasia). While this disorder may be present at birth (congenital), it may not become apparent until early childhood when symptoms such as deformities or improper limb growth are more obvious. Ollier disease primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet (metaphyses). The pelvis is often involved; and more rarely, the ribs, breast bone (sternum), and/or skull may also be affected.

Ollier disease manifests as greater than normal growth of the cartilage in the long bones of the legs and arms so that growth is abnormal and the outer layer (cortical bone) of the bone becomes thin and more fragile. These masses of cartilage are benign (non-cancerous) tumors known as enchondromas. Enchondromas may occur at any time. In about 30% of patients, the enchondromas may undergo malignant changes to a cancer such as chondrosarcomas. Malignant transformation is more likely to occur in the long tubular and flat bones.


There are seven major subtypes of enchondromas: the most common are Ollier disease (subtype I) and Maffucci syndrome (subtype II). When the enchondromas are accompanied by substantial, most often benign, proliferation of blood vessels (vascular anomalies), the array of symptoms is known as Maffucci syndrome. The others are metachondromatosis, genochondromatosis, spondyloenchondrodysplasia, dysspondyloenchondromatosis and cheirospondyloenchondromatosis. The classification of subtypes is based on how the disease affects the patient, whether or not the spine is involved, and the pattern of inheritance.

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  • dyschondroplasia
  • enchondromatosis
  • multiple cartilaginous enchondroses
  • multiple enchondromatosis
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Signs & Symptoms

Ollier disease is not always apparent at birth, but symptoms will usually become evident by early childhood. Between the ages of one and four years, abnormal and/or slow growth of arms and legs is often observed. Usually one leg and/or arm is affected, but both legs and/or arms may be involved. If both legs are involved, short stature may result; if only one leg is involved, then an affected individual may limp.

The pelvis is sometimes involved and rarely, the ribs, breast bone (sternum), and/or skull may be affected. Deformities may also develop in the wrists and ankles. Limb shortening and bowing of the long bones may occur in some affected individuals.

Ollier disease also hampers proper development of bone (ossification). Fractures are a common occurrence in people affected by this disorder and usually heal well. In some patients, the development of some forms of malignant bone growths has been associated with Ollier disease.

Other rare complications can arise, such as gliomas and juvenile granulosa cell tumors. Gliomas are a type of brain tumor; they are referred to as intra-axial brain tumors, which refer to the growth of the brain tumors within the brain tissue itself. Juvenile granulosa cell tumor (JGCT) is a rare ovarian cancer; it has a favorable prognosis if diagnosed early.

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The underlying cause of Ollier disease is not known. Changes (mutations) in IDH1, IDH2 and PTHR1 genes have been linked to Ollier disease and Maffucci syndrome. The mutations are due to somatic mosaicism, which means that the mutation is present only in a percentage of the cells, not all the cells in the body. In Ollier disease, the mutation is present only in the enchondromas.

So far, all the cases of Ollier disease have been sporadic in their families and not inherited. But, in theory, if a gene mutation is present in the egg or sperm (germline), the condition could be passed on in an autosomal dominant pattern. Dominant genetic disorders occur when only a single copy of a non-working gene is necessary to cause a particular disease. The non-working gene can be inherited from either parent or can be the result of a de novo mutated (changed) gene in the affected individual. The risk of passing the non-working gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.

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Affected populations

The estimated prevalence of the disease is 1/100,000. Ollier disease is a very rare disorder that affects males and females in equal numbers. Symptoms are most often observed in children but can occur in adolescents and adults. This disorder can affect all races.

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Methods of diagnosing Ollier disease include bone biopsy, x-rays, magnetic resonance imaging (MRI), and recording of internal body images (tomography). Affected individuals should be checked routinely by a physician for malignant changes in the bones and joints (e.g., chondrosarcoma).

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Standard Therapies

Surgical correction of deformities of the affected limb(s) has been helpful. In severe cases, artificial (prosthetic) joint replacement may become necessary. Fractures routinely heal without complications. A supportive team approach for children with Ollier disease may be of benefit. Such a team approach may include physical therapy and other medical, social, or vocational services. Other treatment is symptomatic and supportive.

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Clinical Trials and Studies

Information on current clinical trials is posted on the Internet at https://clinicaltrials.gov/. All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Toll-free: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]

Some current clinical trials also are posted on the following page on the NORD website:

For information about clinical trials sponsored by private sources, contact:

For information about clinical trials conducted in Europe, contact:

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Bennett JC, Plum F, eds. Cecil Textbook of Medicine. 20th ed. Philadelphia, PA: W.B. Saunders Co; 1996:1390.

Fauci AS, et al., eds. Harrison’s Principles of Internal Medicine, 14th Ed. New York, NY: McGraw-Hill, Inc; 1998:2274.

Cooper GM. The Cell: A Molecular Approach. 2nd edition. Sunderland (MA): Sinauer Associates; 2000. The Central Role of Enzymes as Biological Catalysts

Wang J P, Xu Z Y, Bao Z Q, et al. Ollier disease: two case reports and a review of the literature. American journal of translational research 2018; 10(11);3818-3826.

Burgetova A, Matejovsky Z, Zikan M, et al. The association of enchondromatosis with malignant transformed chondrosarcoma and ovarian juvenile granulosa cell tumor (Ollier disease). Taiwanese Journal of Obstetrics and Gynecology 2017;56(2): 253-257.

Kumar A, Jain VK, Bharadwaj M, Arya RK. Ollier Disease: Pathogenesis, Diagnosis, and Management. Orthopedics. 2015 Jun; 38(6):e497-506.

Freed D, Stevens E L and Pevsner J. Somatic mosaicism in the human genome. Genes 2014; 5(4):1064-94.

Pansuriya T C, van Eijk R, d’Adamo P, et al. Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nature genetics 2011; 43(12): 1256-61.

Vázquez-García B, Valverde M, and San-Julián M. Ollier’s disease: Benign tumors with risk of malignancy. Review of 17 cases. Anales De Pediatría 2011;74(3):168-173.

Hori K, Matsumine A, Niimi R, et al. Diffuse gliomas in an adolescent with multiple enchondromatosis (Ollier’s disease). Oncology Letters 2010; 1(4): 595-597.

Pansuriya TC, Kroon H M, and Bovée JV. Enchondromatosis: insights on the different subtypes. International Journal of Clinical and Experimental Pathology 2010; 3(6): 557-69.

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No: 166000; Last Update:05/02/2016. https://www.omim.org/entry/166000 Accessed Feb 12, 2020.

Chew FS. Medscape. Enchondroma and Enchondromatosis Imaging. Updated: Jan 24, 2018 Retrieved from https://emedicine.medscape.com/article/389224-overview Accessed Feb 12, 2020.

Spondyloenchondrodysplasia. Genetic and Rare Diseases Information Center. Last updated: 2/1/2016 Retrieved from https://rarediseases.info.nih.gov/diseases/4978/spondyloenchondrodysplasia Accessed Feb 12, 2020

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