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Ehlers-Danlos syndrome, arthrochalasia type


Other Names for this Disease
  • Arthrochalasis multiplex congenita
  • EDS VII
  • EDS7A (formerly)
  • Ehlers-Danlos syndrome type 7
  • Ehlers-Danlos syndrome type 7A (formerly)
Related Diseases
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Overview

Ehlers-Danlos syndrome (EDS), arthrochalasia type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility; congenital hip dislocation; fragile, hyperextensible skin; hypotonia; and kyphoscoliosis (kyphosis and scoliosis).[1][2] EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner.[3] Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.[4]
Last updated: 6/2/2015

References

  1. Susan P Pauker, MD, FACMG; Joan Stoler, MD. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. UpToDate. December 2014; Accessed 5/21/2015.
  2. Klaassens M1, Reinstein E, Hilhorst-Hofstee Y, Schrander JJ, Malfait F, Staal H, ten Have LC, Blaauw J, Roggeveen HC, Krakow D, De Paepe A, van Steensel MA, Pals G, Graham JM Jr, Schrander-Stumpel CT. Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood. Clin Genet. August 2012; 82(2):121-130.
  3. Defendi GL. Genetics of Ehlers-Danlos Syndrome. Medscape Reference. October 15, 2013; http://emedicine.medscape.com/article/943567-overview.
  4. Susan P Pauker, MD, FACMG; Joan Stoler, MD. Overview of the management of Ehlers-Danlos syndromes. UpToDate. March 2014; Accessed 5/22/2015.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Ehlers-Danlos syndrome, arthrochalasia type. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • 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. You may need to register to view the medical textbook, but registration is free.
    Ehlers-Danlos Syndrome
    Genetics of Ehlers-Danlos Syndrome
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • 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. 
  • 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 Ehlers-Danlos syndrome, arthrochalasia type. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Arthrochalasis multiplex congenita
  • EDS VII
  • EDS7A (formerly)
  • Ehlers-Danlos syndrome type 7
  • Ehlers-Danlos syndrome type 7A (formerly)
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.