Recessive Multiple Epiphyseal Dysplasia

National Organization for Rare Disorders, Inc.

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

Disorder Subdivisions

  • None

General Discussion

Summary

Recessive multiple epiphyseal dysplasia (rMED) is a rare genetic disorder characterized by abnormal skeletal development mainly affecting the growth zones of the long tubular bones (dysplasia) including those affecting bones of the hands, hips, knees and feet. Joint pain, particularly of the hips and/or knees, is also common and develops during childhood. Affected individuals may exhibit additional abnormalities such as mild sideways curvature of the spine (scoliosis). Certain malformations such as clubfoot or cleft palate can be present at birth (congenital). rMED is caused by mutations in the SLC26A2 gene. This gene is also known as the diastrophic dysplasia sulfate transport or DTDST gene. The term ‘recessive' in the disorder's name refers to the how the disorder is inherited (autosomal recessive inheritance). rMED is a form of skeletal dysplasia (osteochondrodysplasia), a broad term for a group of disorders characterized by abnormal growth or development of cartilage and bone. The disorder is also known as multiple epiphyseal dysplasia type 4.

Introduction

Multiple epiphyseal dysplasia is a general 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. In the past, the disorder was subdivided into the milder Ribbing type and the more severe Fairbank type. According to new classification, multiple epiphyseal dysplasia represents a group of disorders and these disorders are classified according to mutations in different genes, and the types of MED are classified according to the causative gene. However, not all genes behind MED have been identified yet. Most subtypes are inherited in an autosomal dominant manner. rMED belongs to a family of skeletal diseases with a variable severity of phenotype caused by different mutations in the same gene. This group includes the following diagnoses from the most severe to the mildest end of the spectrum: achondrogenesis type 1B, atelogenesis type 2, diastrophic dysplasia and rMED is the mildest form.

Supporting Organizations

European Skeletal Dysplasia Network

Institute of Genetic Medicine
Newcastle University
Newcastle upon Tyne, NE1 3BZ
United Kingdom
Tel: 441612755642
Fax: 441612755082
Email: info@esdn.org
Website: http://www.esdn.org

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
Website: http://rarediseases.info.nih.gov/GARD/

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
Email: hgf1@hgfound.org
Website: http://www.hgfound.org/

MAGIC Foundation

6645 W. North Avenue
Oak Park, IL 60302
Tel: (708)383-0808
Fax: (708)383-0899
Tel: (800)362-4423
Email: contactus@magicfoundation.org
Website: http://www.magicfoundation.org

Restricted Growth Association

PO Box 5137
Yeovil, BA20 9FF
United Kingdom
Tel: 3001111970
Fax: 3001112454
Email: office@restrictedgrowth.co.uk
Website: http://www.restrictedgrowth.co.uk

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 www.rarediseases.org 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:  6/1/2015
Copyright  2015 National Organization for Rare Disorders, Inc.