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Ollier's disease

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Synonyms: multiple endochondromatosis, dyschondroplasia, endochondromatosis

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What is Ollier's disease?

Enchondromas are common intraosseous benign cartilaginous tumours, that develop in close proximity to growth plate cartilage. When multiple enchondromas are present, the condition is called enchondromatosis, also known as Ollier's disease (World Health Organization (WHO) terminology).1 When it is associated with haemangioma it is called Maffucci's syndrome. Disruption of musculoskeletal growth, development and function is the major cause for concern. There is also a risk of malignant change to osteosarcoma, chondrosarcoma or other bone tumours.


  • Ollier's disease (and Maffucci's syndrome) are usually non-familial disorders. Both disorders thus appear to occur spontaneously and are not inherited.

  • Although an identical heterozygous mutation in the PTHR1 gene has been identified, other mutations in this gene were not identified in additional patients with this disorder. These studies suggest that the cause of Ollier's disease is heterogeneous and raise the possibility that two (or more) genetic mutations are required to develop the disease. The development of enchondromas could thus be caused by a germ line mutation associated with a somatic mosaic mutation.

  • Additional mutational events may underlie progression from enchondromas to tumours.

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How common is Ollier's disease? (Epidemiology)2

  • Ollier's disease is very rare. The estimated prevalence of Ollier's disease is 1/100,000.

  • Maffucci's syndrome is even rarer.

  • Solitary endochondromas are most commonly discovered between 20 and 40 years of age but Ollier's disease tends to present before the age of 10 years.

  • Males are affected twice as often as females.


There are six types of enchondromatosis but three are more common.

  • In Ollier's disease there are multiple enchondromas that are mostly unilateral or unevenly distributed throughout the metaphyses of the long bones, sparing the cranium and spine.

  • In Maffucci's syndrome the enchondromas occur with multiple cutaneous haemangiomas that appear as soft tissue calcifications or phleboliths on X-ray.

  • If there is symmetrical involvement throughout the body, including the cranium, hands and feet, it is known as generalised enchondromatosis.

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Symptoms of Ollier's disease (presentation)3

The lesions of Ollier's disease tend to be bilateral but to predominate on one side. Enchondromas usually occur in the short tubular bones of the hands and feet as well as long bones of upper and lower extremities. Palpable masses develop that may cause angular deformity and asymmetrical growth. The masses increase in size as the child grows, along with asymmetrical shortening of a limb and either genu varus or genu valgus deformities. Varus deformity is very common.

Differential diagnosis1

The differential diagnosis may include:

  • Hereditary multiple endochondromatosis (HME). HME is an autosomal dominant disorder characterised by multiple bone tumours capped by cartilage, that occur mostly in the metaphyses of long bones.

  • Other rare forms of chondromatosis (which include metachondromatosis, spondyloenchondroplasia and genochondromatosis types I and II).

  • Polyostotic fibrous dysplasia.

  • Diaphyseal aclasis.

  • Kaposi's sarcoma.

  • Klippel-Trénaunay syndrome.

Diagnosing Ollier's disease (investigations)4

  • The basic investigation is X-ray. Most cases have diaphyseal or metaphyseal lesions which do not cross the growth plate until after it has closed. Sometimes enchondromatosis will affect the metaphyseal and epiphyseal regions. When enchondromas cross the growth plate they cause severe limb length deformities and angular deformities.

  • CT or MRI scanning may be required, as may bone scans. They are indicated for the evaluation and surveillance of lesions that become symptomatic (pain, and increase in size).

  • Biopsy of suspicious lesions may be required.

Management of Ollier's disease

The most common difficulties experienced with Ollier's disease concern mobility and hand function. These difficulties are managed with physiotherapy and orthotics.

Serial surgery may be required for the distortion of joints and when limbs are of unequal lengths.5 6

Complications of Ollier's disease

As well as the problem of asymmetrical growth there can be pathological fracture and malignant change. The rate of chondrosarcoma in Ollier's disease has been estimated at 10-20%.7


  • The prognosis for Ollier's disease is difficult to assess as there is a paucity of peer-reviewed research and much of it is contradictory.

  • As is generally the case, forms with an early onset appear more severe.

  • The reported incidence of malignant transformation is variable and estimated to occur in 5-50%.

Prevention of Ollier's disease

Despite acceptance that Ollier's disease carries a risk of malignant change there is little in the literature to quantify the risk and no agreed protocol for screening.

History of Ollier's disease

Louis Xavier Édouard Léopold Ollier was a French surgeon who was born in 1830 and died in 1900. He was an intern of Lyon Hospital in 1851, graduated in medicine with distinction in 1856 and, in 1857, obtained his doctorate at Paris with a dissertation based on histological studies of 400 malignant neoplasms. His most notable work was in bone and joint surgery. In 1877 a new medical faculty was established in Lyon and he was appointed professor of clinical surgery.

Angelo Maffucci was an Italian pathologist who was born in 1847 and died in 1903. He graduated in Naples in 1872. In 1882 he became head of general pathology at Messina University and the following year he received the chair of anatomical pathology at Catania. In 1884 he was appointed to the chair of pathological anatomy in Pisa, where he died in 1903. He made considerable contributions that were poorly recognised outside Italy.

Further reading and references

  1. Silve C, Juppner H; Ollier disease. Orphanet J Rare Dis. 2006 Sep 22;1:37.
  2. Singh S, Dhingra M, Verma A, et al; Ollier's Disease - Rare Presentation of the Rare Disease. J Orthop Case Rep. 2021 Nov;11(11):31-33. doi: 10.13107/jocr.2021.v11.i11.2504.
  3. El Abiad JM, Robbins SM, Cohen B, et al; Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature. Am J Med Genet A. 2020 May;182(5):1093-1103. doi: 10.1002/ajmg.a.61530. Epub 2020 Mar 7.
  4. Sadiqi J, Rasouly N, Hamidi H, et al; Radiographic features of Ollier's disease - two case reports. BMC Med Imaging. 2017 Dec 2;17(1):58. doi: 10.1186/s12880-017-0230-8.
  5. Madan SS, Robinson K, Kasliwal PD, et al; Limb reconstruction in Ollier's disease. Strategies Trauma Limb Reconstr. 2015 Apr;10(1):49-54. doi: 10.1007/s11751-015-0223-5. Epub 2015 Apr 10.
  6. Huser AJ, Hoellwarth JS, Coppa V, et al; Lengthening the Lower Extremities of Children with Ollier's and Maffucci's Enchondromatosis Using Implantable Lengthening Nails. Children (Basel). 2021 Jun 14;8(6):502. doi: 10.3390/children8060502.
  7. Fadili O, El Khaymy K, Bouzid Y, et al; Disastrous evolution of ollier disease: a rare case report. Ann Med Surg (Lond). 2023 May 17;85(6):2985-2989. doi: 10.1097/MS9.0000000000000678. eCollection 2023 Jun.

Article history

The information on this page is written and peer reviewed by qualified clinicians.

  • Next review due: 19 Aug 2028
  • 21 Aug 2023 | Latest version

    Last updated by

    Dr Hayley Willacy, FRCGP

    Peer reviewed by

    Dr Pippa Vincent, MRCGP
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