$Unique_ID{BRK03683}
$Pretitle{}
$Title{Dysplasia, Epiphysealis Hemimelica}
$Subject{Dysplasia, Epiphysealis Hemimelica Aclasis, Tarsoepiphyseal
Chondrodystrophy, Epiphyseal DEH Dysplasia Epiphyseal Hemimelica Epiphyseal
Osteochondroma, Benign Tarsomegaly Trevor Disease Conradi-Hunermann Syndrome
(Chondrodysplasia Punctata; Chondrodystrophia Calcificans Congenita; Dysplasia
Epiphysealis Punctata; Conradi Disease)}
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Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc.

572:
Dysplasia, Epiphysealis Hemimelica

** IMPORTANT **
It is possible that the main title of this article ( Epiphysealis
Hemimelica Dysplasia) is not the name you expected.  Please check the SYNONYM
list to find the alternate names and disorder subdivisions covered by this
article.

Synonyms

     Aclasis, Tarsoepiphyseal
     Chondrodystrophy, Epiphyseal
     DEH
     Dysplasia Epiphyseal Hemimelica
     Epiphyseal Osteochondroma, Benign
     Tarsomegaly
     Trevor Disease

Information on the following disorders can be found in the Related
Disorders section of this report:

Conradi-Hunermann Syndrome (Chondrodysplasia Punctata; Chondrodystrophia
Calcificans Congenita; Dysplasia Epiphysealis Punctata; Conradi Disease)

General Discussion

** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your physician and/or the agencies listed in the "Resources" section
of this report.

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

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.

Causes

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.

Affected Population

Epiphysealis Hemimelica Dysplasia is a rare disorder predominantly affecting
males.  Symptoms usually first appear between the ages of 2 and 4 years.

Related Disorders

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.)

Therapies:  Standard

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.

Therapies:  Investigational

This disease entry is based upon medical information available through
November 1988.  Since NORD's resources are limited, it is not possible to
keep every entry in the Rare Disease Database completely current and
accurate.  Please check with the agencies listed in the Resources section for
the most current information about this disorder.

Resources

For more information on Epiphysealis Hemimelica Dysplasia, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     (203) 746-6518

     The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
     Information Clearinghouse
     Box AMS
     Bethesda, MD  20892
     (301) 495-4484

References

THE VARIABLE MANIFESTATIONS OF DYSPLASIA EPIPHYSEALIS HEMIMELICA:  E.M.
Azouz, et al.  Pediatr. Radiol. (1985:  issue 15(1)).  Pp. 44-49.

DYSPLASIA EPIPHYSEALIS HEMIMELICA:  R. Cruz-Conde, et al.; Journal
Pediatr Orthop (September 1984:  issue 4(5)).  Pp. 625-629.

DYSPLASIA EPIPHYSEALIS HEMIMELICA.  A CLINICAL AND GENETIC STUDY:  J.M.
Horan, et al.; Journal Bone Joint Surg (Br.)  (May 1983:  issue 65(3)).  Pp.
350-354.

MENDELIAN INHERITANCE IN MAN, 7th ed:  Victor A. McKusick; Johns Hopkins
University Press, 1986.  P. 209.