Epiphysealis Hemimelica Dysplasia is a disorder that affects bone joints. It is characterized by overgrowth of the cartilage on the end (epiphysis) of one or more of the long bones (carpal or tarsal bones) in the hand or foot. Less often, the cartilage on other bones such as those in the ankle, knee or hip joint can be affected. Usually only one limb is involved. The limbs may be unequal in length.
Symptoms of Epiphysealis Hemimelica Dysplasia usually start between ages 2 and 4 years. The cartilage on the end of one or more of the long bones in the hand or foot grows excessively, causing pain and discomfort. Less often, the cartilage on bones in the ankle, knee or hip joints can also be affected. Usually only one limb is involved and the limbs may be unequal in length.
The exact cause of Epiphysealis Hemimelica Dysplasia is not known. The disorder can occur in varying degrees within a family, but no pattern of inheritance has been determined. However, a variant form of the disorder, first described in 1974 and confirmed in 1993, known as Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas, appears to be transmitted in a pattern consistent with autosomal dominant inheritance.
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 child. The risk is the same for each pregnancy.
Chondrodysplasia Punctata is a form of disproportionate dwarfism, characterized by a pug nose, scaly skin lesions, and abnormalities in the cartilage on the ends of long bones.
Conradi-Hunermann Syndrome is a rare inherited form of Chondrodysplasia Punctata, affecting infants and young children. This disorder is characterized by mild to moderate growth deficiencies and unusual facial features. Large skin pores and sparse coarse hair may also be symptomatic of this condition. (For more information, choose "Conradi-Hunermann" as your search term in the Rare Disease Database.)
Treatment of Epiphysealis Hemimelica Dysplasia consists of surgically removing the overgrowths of cartilage in joints where it causes pain and discomfort. Other treatment is symptomatic and supportive.
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For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No: 127800; Last Edit: 6/25/1994; Entry No: 127820; 625/1994.
TEXTBOOK Behrman RE., ed. Nelson Textbook of Pediatrics, 15th ed. Philadelphia, PA: W.B. Saunders Company; 1996:1977.
REVIEW ARTICLES Gregory PR Jr., et al., Bilateral dysplasia epiphysealis hemimelica: a case report. Foot Ankle. 1993;14:35-37.
Oestreich AE., Imaging of the skeleton and soft tissues in children. Curr Opin Radiol. 1992;4:55-61.
JOURNAL ARTICLES Takagi M, et al., Multiple occurence of osteochondromas in dysplasia epiphysealis hemimelica. Arch Orthop Trauma Surg. 2000;120:358-60.
Lorani A, et al., Multiple masses in a 2-year 5-month old girl. Dysplasia epiphysealis hemimelica or Trevor's disease. Clin Orthop. 2000;375:320-23, 338-40.
Shinozaki T, et al., Dysplasia epiphysealis hemimelica of the proximal tibia showing epiphyseal osteochondroma in an adult. Clin Imaging. 1999;23:168-71.
Peduto AJ, et al., MR imaging of dysplasia epiphysealis hemimelica: bony and soft-tissue abnormalities. AJR Am J Roentgenol. 1999;172:819-23.
Kuo RS, et al., Dysplasia epiphysealis hemimelica: clinical features and management. J Pediatr Orthop. 1998;18:543-48.
DeVine JH, et al., Dysplasia epiphysealis hemimelica in an elderly patient. Am J Orthop. 1997;26:223-25.
Takegami Y, et al., A case of bilateral dysplasia epiphysealis hemimelica associated with polydactyly and syndactyly. Clin Orthop. 1993;296:307-09.
Maroteaux P, et al., Dominant carpotarsal osteochondromatosis. J Med Genet. 1993;30:704-06.
Hensinger RN, et al., Familial dysplasia epiphysealis hemimelica, associated with chondromas and osteochondromas: report of a kindred with variable presentations. J Bone Joint Surg. 1974;56A:1513-16.
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