Dominant Multiple Epiphyseal Dysplasia

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Dominant Multiple Epiphyseal Dysplasia is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Dominant multiple epiphyseal dysplasia is a general term for a group of genetic disorders characterized by skeletal malformations (dysplasia) including those affecting bones of the hands, feet, and knees. Joint pain, particularly of the hips or knees, is also common and often develops during childhood. Initial signs may include pain in the hips and knees following exercise. Progressive joint disease, particularly of the large weight-bearing bones, is common. Dominant multiple epiphyseal dysplasia is caused by mutations in certain genes. Five different genes are known to cause the disorder.

Multiple epiphyseal dysplasia is a broad term for a group of disorders characterized by abnormal development of the bone and cartilage of the epiphyses, which are the rounded ends or "heads" of the long bones of the arms or legs. In the past, the disorder was subdivided into the milder Ribbing type and the more severe Fairbank type. These terms are no longer used. Researchers now know that multiple epiphyseal dysplasia represents a group or family of at least six disorders that are separated by the underlying genetic mutation that causes each subtype. Most subtypes are inherited in an autosomal dominant manner. One form, multiple epiphyseal dysplasia type 4, is inherited in an autosomal recessive manner. (NORD has a separate report on this disorder.)

Supporting Organizations

European Skeletal Dysplasia Network

Institute of Genetic Medicine
Newcastle University
Newcastle upon Tyne, NE1 3BZ
United Kingdom
Tel: 441612755642
Fax: 441612755082

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311

Human Growth Foundation

997 Glen Cove Avenue
Suite 5
Glen Head, NY 11545
Tel: (516)671-4041
Fax: (516)671-4055
Tel: (800)451-6434

MAGIC Foundation

6645 W. North Avenue
Oak Park, IL 60302
Tel: (708)383-0808
Fax: (708)383-0899
Tel: (800)362-4423

Restricted Growth Association

PO Box 5137
Yeovil, BA20 9FF
United Kingdom
Tel: 3001111970
Fax: 3001112454

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. 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.

Last Updated:  5/1/2015
Copyright  2015 National Organization for Rare Disorders, Inc.