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Ollier Disease

Synonyms of Ollier Disease

  • Dyschondroplasia
  • Enchondromatosis
  • Multiple Cartilaginous Enchondroses
  • Multiple Enchondromatosis

Disorder Subdivisions

  • No subdivisions found.

General Discussion

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 (e.g., 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.


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 not infrequently involved; in rarer cases, 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. The abnormal growth of bone and cartilage often ceases with advancing age as the more flexible cartilage is replaced by bone.

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


The exact cause of Ollier disease is not known. In some cases, it may be inherited as an autosomal dominant genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother.

In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.

Affected Populations

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.

Related Disorders

Symptoms of the following disorders can be similar to those of Ollier disease. Comparisons may be useful for a differential diagnosis:

Maffucci syndrome is a rare genetic disorder characterized by benign overgrowths of cartilage (enchondromas), skeletal deformities, and dark red irregularly shaped patches of skin, resulting from benign growths on the skin (cutaneous) consisting of masses of blood vessels (hemangiomas). Enchondromas are most often found in certain bones (phalanges) of the hands and feet. Skeletal malformations may include legs that are disproportionate in length and/or abnormal side-to-side curvature of the spine (scoliosis). In many cases, bones may tend to fracture easily. In most cases, hemangiomas appear at birth or during early childhood and may be progressive. Maffucci syndrome is inherited as an autosomal dominant genetic trait. (For more information on this disorder, choose "Maffucci" as your search term in the Rare Disease Database.)

Multiple exostoses is a rare disorder characterized by multiple bony growths (multiple exostoses) on the surface of various bones of the body. These bony growths continue to form until shortly after puberty and may cause deformities, particularly of the ankle, knee, and wrist. In some cases, affected individuals may also have abnormally short bones in the fingers (metacarpals). Multiple exostoses may result in short stature and/or compression of the spinal cord and/or various nerves. Multiple exostoses has autosomal dominant inheritance. (For more information on this disorder, choose "Multiple Exostoses" as your search term in the Rare Disease Database.)

Proteus syndrome is a rare disorder that belongs to a group of disorders known as hamartomatous syndromes, in which affected individuals develop benign, tumor-like masses (hamartomas) affecting various parts of the body. In addition to hamartomas, the major finding associated with Proteus syndrome is overgrowth (hypertrophy) of various parts of the body, especially of the hands and feet and skull. Such excessive growth may involve half of the body (hemihypertrophy); all or a portion of one or both of the arms and legs on one side of the body (asymmetrically); one or more of the fingers or toes (macrodactyly); and/or one side of face. A wide variety of additional abnormalities is associated with Proteus syndrome including abnormalities affecting the head and facial (craniofacial) region; discoloration of the skin; and/or skeletal malformations. Craniofacial features may include a prominent forehead (frontal bossing), incomplete closure of the roof of the mouth (cleft palate), and/or abnormalities affecting the eyes. Abnormalities affecting the skin may include overgrowth of skin on the soles of the feet; twisted, widened veins just below the surface of the skin usually on the legs (varicose veins); and/or patches skin that appear darker or lighter in various areas of the body (hyper- or hypopigmentation), such as darkly colored birthmarks (pigmented nevi). In addition, affected individuals may exhibit abnormal front-to-back or side-to-side curvature of the spine (kyphoscoliosis), malformed ribs (dysplastic vertebrae), and/or abnormalities affecting the lungs and/or kidneys. The exact cause of Proteus syndrome is not known.

Standard Therapies

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

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.

Investigational Therapies

Information on current clinical trials is posted on the Internet at All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.

For information about clinical trials being conducted at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010

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

Research is being conducted into the causes of, and surgical treatment options for, people with bone disorders.

Researchers at the National Institutes of Health/National Institute on Aging and at the Hospital for Special Surgery in New York City are investigating the genetics of the disorder and treatment respectively. Currently, researchers are looking for families with multiple members affected by Maffucci syndrome and/or Ollier disease. For more information, contact:

Clair A. Francomano, M.D.
National Institute on Aging
Gerontology Research Center
Box 4
5600 Nathan Shock Drive
Baltimore, MD 21224-6825
Tel: 410-558-8201

Dr. Francomano works in collaboration with Dr. Miikka Vikkula, who is located in Belgium. He may be contacted by e-mail at:

When appropriate, inquiries at Dr. Francomano's office will be redirected to physicians at the Hospital for Special Surgery.

Ollier Disease Resources



Jones KL, ed. Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, PA: W. B. Saunders Co: 1997:519.

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.

Flemming DJ, Murphey MD. Enchondroma and chondrosarcoma. Semin Musculoskelet Radiol. 2000;4:59-71.

Robbin MR, Murphey MD. Benign chondroid neoplasms of bone. Semin Musculoskelet Radiol. 2000;4:45-58.

Azouz EM, Teebi AS, Eydoux P, et al. Bone dysplasias: an introduction. Can Assoc Radol J. 1998;49:105-09.

Jesus-Garcia R, Bongiovanni JC, Korukian M, et al. Use of the Ilizarov external fixator in the treatment of patients with Ollier's disease. Clin Orthop. 2001;(382):82-6.

Bovee JV, van Roggen JF, Cleton-Jansen AM, et al. Malignant progression in multiple enchondromatosis (Ollier's disease): an autopsy-based molecular genetic study. Hum Pathol. 2000;31:1299-303.

Ahmed SK, Lee WC, Irving RM, et al. Is Ollier's disease an understaging of Maffucci's syndrome? J Laryngol Otol. 1999;113:861-64.

Balcer AR, Galetta SL, Cornblath WT, et al. Neuro-ophthalmologic manifestations of Maffucci's syndrome and Ollier's disease. J Neuroophthalmol. 1999;19:62-6.

Little C. Ollier disease: an interdisciplinary approach. Orthop Nurs. 1994;13:50-55.

Raupp P, et al. Neonatal radiological aspect of enchondromatosis (ollier's disease). Pediatr Radiol.1990;20: 337-338.

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No: 166000; Last Update:12/2/1999.

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Report last updated: 2008/04/05 00:00:00 GMT+0

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