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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Dyschondroplasia
  • Enchondromatosis
  • Multiple cartilaginous enchondroses
  • Multiple enchondromatosis
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Ollier disease
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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?



  • What is Ollier disease? (Back to Top)

  • Ollier disease is a skeletal disorder characterized by an asymmetric distribution of cartilagenous tumors (endochondromas) which may lead to skeletal deformities and limb-length discrepancy.[1][2][0] This condition 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).[1][3] Clinical manifestations often appear in the first decade of life. The cause is unknown. There is no medical treatment, although surgery may be indicated in cases where complications (pathological fractures, growth defect, malignant transformation) arise.[3]
  • Last Reviewed: 5/19/2011

  • What are the symptoms of Ollier disease?
     (Back to Top)

  • Clinical manifestations in Ollier disease often appear in the first decade of life and usually start with the appearance of palpable bony masses on a finger or a toe, an asymetric shortening of an extremity with limping, and skeletal deformities which may be associated with pathologic fractures. [3] Enchondromas frequently affect the long tubular bones, particularly the tibia, the femur, and/or the fibula; flat bones, especially the pelvis, can also be affected.[1][3] The lesions may affect multiple bones and are usually asymetrically distributed, exclusively or predominantly affecting one side of the body. Affected bones are often shortened and deformed. Indeed, bone shortening may be the only clinical sign of the disease. These bone shortenings are often associated with bone bending and curving, and may lead to limitations in articular movement. Forearm deformities are frequently encountered. In childhood, the lesions are subjected to pathologic fractures.[3]
  • Last Reviewed: 5/19/2011

  • What causes Ollier disease?
     (Back to Top)

  • The exact cause of Ollier disease is not known.[1] It is usually a sporadic, non-familial disorder, however, in some cases, it may be inherited as an autosomal dominant genetic trait.[1][3][4]
  • Last Reviewed: 5/19/2011

  • What are the chances that the benign tumors found in Ollier disease will become malignant (cancerous)? (Back to Top)

  • Enchondromas in Ollier disease present a risk of malignant transformation into chondrosarcomas. This transformation most commonly occurs in young adults, and thus presents at an earlier age than observed in patients with chondrosarcoma alone. The reported incidence of malignant transformation is variable and estimated to occur in 5–50% of the cases.[2][3]
  • Last Reviewed: 5/19/2011

  • How might Ollier disease be treated? (Back to Top)

  • There is no specific medical treatment for Ollier disease. Surgery is indicated in cases where complications (pathological fractures, growth defect, malignant transformation) arise.[3]
  • Last Reviewed: 5/19/2011

  • What type of follow-up should individuals with Ollier disease have as they age? (Back to Top)

  • Although we were unable to find any specific guidelines regarding follow-up care for individuals with Ollier disease, one source did mention that patients require "regular" clinical and radiographic surveillance due to the risk of secondary chondrosarcoma transformation.[5] We recommend that you discuss appropriate follow-up care with your physician.
  • Last Reviewed: 5/19/2011

  • What is the prognosis for individuals with Ollier disease? (Back to Top)

  • The prognosis of Ollier disease is difficult to assess as this condition can be extremely variable (in terms of size, number, location, and evolution of enchondromas; age of onset and of diagnosis; and requirement for surgery).[3]  

    Research has shown that patients with numerous lesions 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 phalanges may lead to major finger deformities. As is generally the case, forms with an early onset appear more severe.[3] 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 a small incidence of malignant transformation.[2]


  • Last Reviewed: 5/19/2011


References  (Back)
  1. Ollier Disease. National Organization for Rare Disorders (NORD). 2006 Available at: http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/337/viewAbstract. Accessed May 19, 2011.
  2. Chew FS, Maldjian C. Enchondroma and Enchondromatosis. eMedicine. 2009 Available at: http://emedicine.medscape.com/article/389224-overview. Accessed May 19, 2011.
  3. Silve C, Juppner H. Ollier disease. Orphanet Journal of Rare Diseases. 2006 Available at: http://www.ojrd.com/content/1/1/37. Accessed May 19, 2011.
  4. Enchondromatosis, Multiple. Online Mendelian Inheritance in Man (OMIM). 2005 Available at: http://www.ncbi.nlm.nih.gov/omim/166000. Accessed May 19, 2011.
  5. Gibbons CLMH. NORD Guide to Rare Diseases. In: . Ollier Disease. Philadelphia, PA:Lippincott Williams & Wilkins; 2003:

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