You are here: Home / Rare Disease Information / Rare Disease Database

Search Rare Diseases

Enter a disease name or synonym to search NORD's database of reports.

0-9 - A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z

Dysplasia Epiphysealis Hemimelica

NORD is very grateful to German C. Steiner, MD,Clinical Professor of Pathology, Department of Pathology, NYU School of Medicine, for assistance in the preparation of this report.

Synonyms of Dysplasia Epiphysealis Hemimelica

  • aclasia, tarsoepiphyseal
  • chondrodystrophy, epiphyseal
  • DEH
  • epiphyseal osteochondroma
  • tarsomegaly
  • Trevor disease

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Dysplasia epiphysealis hemimelica, also known as Trevor disease, is a rare skeletal developmental disorder of childhood. It is characterized by an overgrowth of cartilage on the ends (epiphyses) of the long bones of the arms and legs and the bones of the wrists (carpal bones) or the ankle (tarsal bones). The disorder may involve one epiphysis (localized) or multiple epiphyses. Most affected individuals develop a painless mass or swelling around the affected joint. Additional symptoms may develop in some cases. The exact cause of dysplasia epiphysealis hemimelica is unknown.


The most common symptom associated with dysplasia epiphysealis hemimelica is a painless mass or swelling on one side of an affected joint, particularly in the middle of the joint. The swelling or mass is caused by an overgrowth of cartilage of the long bones (epiphyses). The lower limbs are most often affected, especially the bones of the knees or ankles. Cartilage overgrowth in dysplasia epiphysealis hemimelica is slowly progressive and a mass, if left untreated, will increase in size.

The specific symptoms present in each individual will vary depending on the size and location of the overgrowth. Some individuals may have no symptoms besides a painless mass or swelling. Pain or discomfort in the affected area may occur in some cases. Additional symptoms have been reported including decreased range of motion of affected joints, joint deformity, limb length discrepancy, and muscle wasting in the affected area. In rare cases, the joint may lock. Some individuals may limp due to damage to the affected joints of the lower limbs.

Dysplasia epiphysealis hemimelica may affect one epiphysis (localized), multiple bones in a single limb, or an entire limb (generalized) usually involving a leg from the pelvis to the foot. Approximately two-thirds of affected individuals have multiple lesions.

There are no reports of malignant transformation of the cartilaginous overgrowths associated with dysplasia epiphysealis hemimelica and the disorder is considered benign.


The cause of dysplasia epiphysealis hemimelica is unknown. There is no evidence that hereditary factors play a role in the development of the disorder. More research is necessary to determine the exact, underlying cause(s) of dysplasia epiphysealis hemimelica.

Affected Populations

Dysplasia epiphysealis hemimelica usually affects individuals between the ages of 2 and 14. However, the disorder has also been described in the adults. Males are affected more often than females. The incidence of dysplasia epiphysealis hemimelica has been estimated at 1 in 1,000,000 individuals in the general population.

The disorder was first described in the medical literature in 1926. The name, dysplasia epiphysealis hemimelica, first appeared in the medical literature in 1956.

Related Disorders

Symptoms of the following disorders can resemble those of dysplasia epiphysealis hemimelica. Comparisons may be useful for a differential diagnosis.

Osteochondroma is a benign (noncancerous) mass or tumor of cartilage and bone. Osteochondromas most often occur near the ends of the long bones of the arms and legs. An osteochondroma may slowly increase size as an affected child grows older. Symptoms of an osteochondroma vary, but can include the development of a painless mass or swelling in the affected area. An osteochondroma can cause pain or soreness and weakness or irritation in the affected area or nearby. Some affected individuals may have one limb that is longer than the corresponding limb. Osteochondroma is the most common benign bone tumor and usually develops between 10 and 30 years of age. The exact cause of an osteochondroma is unknown.

Synovial chondromatosis is a rare, benign condition that involves the synovium, the thin layer of tissue around the joints. This tumor does not spread, but can cause severe damage to the joint without proper care. With this disease, the synovium grows abnormally and produces nodules made from cartilage. However, the nodules may break off and become loose inside the joint. This can cause damage to existing cartilage and become extremely painful. The joint may become swollen, painful, and have a decreased range of motion. It may also be possible to feel the nodules themselves in the joint. Synovial chondromatosis occurs mostly in the knee of middle aged persons, although other joints can be affected. This disease affects men twice as frequently as women.

Intracapsular and para-articular chondroma is a very rare benign tumor that forms in the connective-tissue of large joints, such as the knee. Usually swelling and aching will occur, but restricted motion is uncommon. Often occurring after injury, this disease can lead to cartilage degeneration and calcification if left untreated. Biopsy can confirm this diagnosis.

Standard Therapies

A diagnosis of dysplasia epiphysealis hemimelica is made based upon identification of characteristic symptoms, a detailed patient history, and a thorough clinical evaluation. X-ray studies (plain radiographs) can demonstrate calcified masses affecting the epiphyses. However, in some cases, plain radiographs may appear normal because the lesions have not yet begun to harden (ossify). Magnetic resonance imaging (MRI) may be used to determine the extent of joint and epiphyseal involvement.

The treatment of dysplasia epiphysealis hemimelica is directed toward the specific symptoms that are apparent in each individual, such as pain, joint deformity or deceased range of motion. Most cases reported in the medical literature were treated by surgical removal of the mass and correction of any joint deformity. Recurrence is unlikely, but has been reported. Supportive joint care may be beneficial in some cases.

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 web site.

For information about clinical trials being conducted at the 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:

For information about clinical trials conducted in Europe, contact:

Contact for additional information about dysplasia epiphysealis hemimelica:

Dr. German C. Steiner
NYU Hospital for Joint Disease
Department of Pathology
301 E. 17th Street
New York, NY 10003
(212) 598-6231 (Phone)
(212) 598-6057 (Fax)
e-mail :

Dysplasia Epiphysealis Hemimelica Resources



Morrissy R, Weinstein SL. Lovell and Winter's Pediatric Orthopaedics, 6th ed. Lippincott Williams & Wilkins. Philadelphia, PA. 2006:339-341.

Moon CN, Femino JD, Skaggs DL. Dysplasia Epiphysealis Hemimelica. NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:186.

Struijs PA, Kerkhoffs GM, Besselaar PP. Treatment of dysplasia epiphysealis hemimelica: a systematic review of published reports and a report of seven patients. J Foot Ankle Surg. 2012;51(5):620-6

Vogel T, Skuban T, Kirchhoff C, et al. Dysplasia epiphysealis hemimelica of the distal ulna: a case report and review of the literature. Eur J Med Res. 2009;14:272-276.

Glick R, Khaldi L, Ptaszynski K, Steiner GC. Dysplasia epiphysealis hemimelica (Trevor disease): a rare developmental disorder of bone mimicking osteochondroma of long bones. Hum Pathol. 2007;38:1265-1272.

Rosero VM, Kiss S, Terebessy T, Kollo K, Szoke G. Dysplasia epiphysealis hemimelica (Trevor's disease). 7 of our own cases and a review of the literature. Acta Orthopaedica. 2007;78:856-861.

Smith EL, Raney EM, Matzkin EG, Fillman RR, Yandow SM. Trevor's disease: the clinical manifestations and treatment of dysplasia epiphysealis hemimelica. J Pediatr Orthop B. 2007;16:297-302.

Skaggs DL, Moon CN, Kay RM, et al. Dysplasia epiphysealis hemimelica of the acetabulum. J Bone Joint Surg [Am]. 2000;82:409-414.

Kuo RS, Bellemore MC, Monsell FP, et al. Dysplasia epiphysealis hemimelica: clinical features and management. J Pediatr Orthop. 1998;18:543-548.

The American Academy of Orthropaedic Surgeons, May 2011. Available at Accessed: January 10, 2013

Bakarman KA, Letts RM. Dysplasia Epiphysealis Hemimelica. Emedicine Journal,September 24, 2012. Available at: Accessed: January 10, 2013

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2013/11/25 00:00:00 GMT+0

0-9 - A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z

NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.

Copyright ©2015 NORD - National Organization for Rare Disorders, Inc. All rights reserved.
The following trademarks/registered service marks are owned by NORD: NORD, National Organization for Rare Disorders, the NORD logo, RareConnect. .