NORD gratefully acknowledges German C. Steiner, MD,Clinical Professor of Pathology, Department of Pathology, NYU School of Medicine, for assistance in the preparation of this report.
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.
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.
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.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. 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 : firstname.lastname@example.org
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 http://orthoinfo.aaos.org/topic.cfm?topic=A00602 Accessed: January 10, 2013
Bakarman KA, Letts RM. Dysplasia Epiphysealis Hemimelica. Emedicine Journal,September 24, 2012. Available at: http://emedicine.medscape.com/article/1257694-overview Accessed: January 10, 2013
The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional.
The content of the website and databases of the National Organization for Rare Disorders (NORD) is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD. Individuals may print one hard copy of an individual disease for personal use, provided that content is unmodified and includes NORD’s copyright.
National Organization for Rare Disorders (NORD)
55 Kenosia Ave., Danbury CT 06810 • (203)744-0100