Recessive Multiple Epiphyseal Dysplasia
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Recessive Multiple Epiphyseal Dysplasia is not the name you expected.
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.
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.
European Skeletal Dysplasia Network
- Institute of Genetic Medicine
- Newcastle University
- Newcastle upon Tyne, NE1 3BZ
- United Kingdom
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Human Growth Foundation
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Restricted Growth Association
- PO Box 5137
- Yeovil, BA20 9FF
- United Kingdom
- Tel: 3001111970
- Fax: 3001112454
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- 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".
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Last Updated: 6/1/2015
Copyright 2015 National Organization for Rare Disorders, Inc.
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