Disease Information for Ollier's enchondromatosis

Clinical Manifestations
Signs & Symptoms
Bowing of extremities
Joint deformities
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Population/Pediatrics population
Family History
Family history/Skeletal malformations
Sex & Age Groups
Population/Child-Infant Only
Diagnostic Test Results
Other Tests & Procedures
Arthroscopy/Knee abnormality
Xray/Bone lesions, multiple 'punched out'
Xray/Diaphysis lesion/Site usual
Xray/Metadiaphysis lesion/Site usual Present
Associated Diseases & Rule outs
Associated Disease & Complications
Limb deformities/anomalies
Skeletal dysplasia
Skeletal/bone malformations
Disease Mechanism & Classification
CLASS/Diaphysis Lesion/Involvement
CLASS/Skeletal (category)
Pathophysiology/Gene locus 3p22
Pathophysiology/Gene locus 3p22-p21.1
Pathophysiology/Gene locus Chromosome 3p
Pathophysiology/Apophysitis syndrome
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Anomalies/Deformities/Malformations (EX)
CHONDROMATOSIS UNILATERAL, Congenital enchondromatosis, Disease Ollier, Disease Ollier's, Enchondroma Multiple, Enchondromas Multiple, Enchondromatoses, Enchondromatosis, Enchondromatosis (disorder), Enchondromatosis congenital, ENCHONDROMATOSIS MULTIPLE, Enchondromatosis syndrome, Enchondroses Multiple, ENCHONDROSES MULTIPLE CARTILAGINOUS, Enchondrosis Multiple, Multiple Enchondroma, Multiple Enchondromas, Multiple enchondromata, Multiple Enchondroses, Multiple Enchondrosis, Ollier, OLLIER DIS, Ollier Disease, OLLIERS DIS, Olliers Disease, Ollier's Disease, Synonym/Enchondromatosis, multiple cartlaginous, Synonym/Osteochondromatosis of Ollier

Ollier Disease ; Dyschondroplasia; Enchondromatosis; Multiple Cartilaginous Enchondroses; Multiple Enchondromatosis; 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 even 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 anytime; After puberty these growths stabilize as cartilage is replaced by bone; In rare cases, the enchondromas may undergo malignant changes (eg, chondrosarcomas); The exact cause of Ollier disease is not known, although in some cases it may be inherited as an autosomal dominant genetic trait;

When the enchondromas of Ollier Disease are accompanied by substantial, most often benign, proliferation of blood vessels (hemangiomas), the array of symptoms is known as Maffucci Syndrome; [NORD 2005


External Links Related to Ollier's enchondromatosis
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)