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Diseases

Genetic and Rare Diseases Information Center (GARD)

Spondyloepiphyseal dysplasia


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Overview

Spondyloepiphyseal dysplasia (SED) is a group of rare genetic conditions that affect bone growth in the spine, arms, and legs. Other features include problems with vision and hearing, clubfeetcleft palate, arthritis, and difficulty with breathing as curvature of the spine progresses. There are two main types of SED, spondyloepiphyseal dysplasia congenita (which is present from bith) and spondyloepiphyseal dysplasia tarda (which develops later in childhood or adolescence).[1][2] Spondyloepiphyseal dysplasia is caused by mutations in genes that are responsible for making proteins that are needed for the creation of bone and cartilage. Most cases are due to a new (de novo) mutation, although it can be passed down through families. Treatment is aimed at managing the symptoms and associated complications as they arise.[1]
Last updated: 4/21/2016

References

  1. A to Z: Spondyloepiphyseal Dysplasia (SED). Kids Health from Nemours. 2016; http://kidshealth.org/en/parents/az-sed.html.
  2. Parikh S. Spondyloepiphyseal Dysplasia. Medscape Reference. November 2, 2015; http://emedicine.medscape.com/article/1260836-overview.
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In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • Medscape Reference has information on spondyloepiphyseal dysplasia in general. You may need to register to view this medical reference, but registration is free.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.