Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)


Synonym(s) Dyschondroplasia
Ollier disease
Prevalence 1-9 / 100 000
Inheritance Not applicable
Age of onset Childhood
  • Q78.4
  • C0014084
  • D004687
  • 10014642


Enchondromatosis (or according to the WHO terminology, Ollier disease) is defined by the presence of multiple enchondromas with an asymmetric distribution. The estimated prevalence of Ollier disease is 1/100,000. Enchondromas are common intraosseous, usually benign, cartilaginous tumors that develop in close proximity to growth plate cartilage. Clinical manifestations of Ollier disease often appear in the first decade of life. The cartilage lesions can be extremely variable (in terms of size, number, location, evolution of enchondromas, age of onset and of diagnosis, requirement for surgery). Clinical problems caused by enchondromas include skeletal deformities, limb-length discrepancy, and the potential risk for malignant change to chondrosarcoma. The condition in which multiple enchondromatosis is associated with soft tissue hemangiomas is known as Maffucci syndrome. Until now both Ollier disease and Maffucci syndrome have only occurred in isolated patients and are not familial conditions. It remains uncertain whether the disorder is caused by a single gene defect or by combinations of (germ-line and/or somatic) mutations. The diagnosis is based on clinical and conventional radiological evaluations. Histological analysis has a limited role and is mainly used if malignancy is suspected. There is no medical treatment for enchondromatosis. Surgery is indicated in case of complications (pathological fractures, growth defects, malignant transformation). The prognosis for Ollier disease is difficult to assess. As is generally the case, forms with an early onset appear more severe. Enchondromas in Ollier disease present a risk of malignant transformation of enchondromas into chondrosarcomas.

Expert reviewer(s)

  • Pr Harald JÜPPNER
  • Dr Caroline SILVE

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Detailed information

Summary information
Review article
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.