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Diseases

Genetic and Rare Diseases Information Center (GARD)

Ehlers-Danlos syndrome, kyphoscoliosis type


Other Names for this Disease
  • Ehlers-danlos syndrome oculoscoliotic type
  • EDS 6 (formerly)
  • Ehlers-Danlos syndrome type 6 (formerly)
Related Diseases
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Overview

Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common signs and symptoms include hyperextensible skin that is fragile and bruises easily; joint hypermobility; severe hypotonia at birth; progressive kyphoscoliosis (kyphosis and scoliosis); and fragility of the sclera.[1][2] EDS, kyphoscoliosis type is caused by changes (mutations) in the PLOD1 gene and is inherited in an autosomal recessive manner.[1] Treatment is focused on preventing serious complications and relieving associated signs and symptoms.[1][3]
Last updated: 6/1/2015

References

  1. Yeowell HN, Steinmann B. Ehlers-Danlos Syndrome, Kyphoscoliotic Form. GeneReviews. January 2013; http://www.ncbi.nlm.nih.gov/books/NBK1462/. Accessed 4/26/2013.
  2. Pauker SP & Stoler J. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. UpToDate. February 22, 2016; http://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-ehlers-danlos-syndromes.
  3. 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, kyphoscoliosis 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, kyphoscoliosis type. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Ehlers-danlos syndrome oculoscoliotic type
  • EDS 6 (formerly)
  • Ehlers-Danlos syndrome type 6 (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.