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Genetic and Rare Diseases Information Center (GARD)

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Multiple epiphyseal dysplasia


Other Names for this Disease

  • EDM
  • Epiphyseal dysplasia, multiple
  • MED
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Multiple epiphyseal dysplasia (MED) is a group of disorders of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types, which are distinguished by their patterns of inheritance - autosomal dominant and autosomal recessive. Both types have relatively mild signs and symptoms, which may include joint pain that most commonly affects the hips and knees; early-onset arthritis; a waddling walk; and mild short stature as adults. Recessive MED is additionally characterized by malformations of the hands, feet, and knees; scoliosis; and other abnormalities. The majority of individuals are diagnosed during childhood, but some mild cases may not be diagnosed until adulthood. Dominant MED is caused by mutations in the COMP, COL9A1, COL9A2, COL9A3, or MATN3 genes (or can be of unknown cause), and recessive MED is caused by mutations in the SLC26A2 gene.[1]
Last updated: 5/12/2011

References

  1. Multiple epiphyseal dysplasia. Genetics Home Reference. February 2008; http://ghr.nlm.nih.gov/condition/multiple-epiphyseal-dysplasia. Accessed 5/12/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Multiple epiphyseal dysplasia. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    MED 1
    MED 2
    MED 3
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    MED 5
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Multiple epiphyseal dysplasia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • EDM
  • Epiphyseal dysplasia, multiple
  • MED
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.