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Ehlers-Danlos syndrome kyphoscoliotic type


Other Names for this Disease

  • EDS 6 (formerly)
  • Ehlers-danlos syndrome oculoscoliotic type
  • Ehlers-Danlos syndrome type 6 (formerly)
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

Ehlers-Danlos syndrome (EDS) kyphoscoliotic type (previously known as EDS VI) is a connective tissue disorder characterized by fragile and hyperextensible skin, thin scars, easy bruising, generalized joint laxity (the ability to bend beyond normal range of motion), severe muscular hypotonia at birth, progressive scoliosis, and fragility of the sclera with increased risk of rupture of the globe.[1] People with EDS kyphoscoliotic type are at risk for rupture of medium-sized arteries and respiratory compromise if kyphoscoliosis is severe.[1][2] This condition is cause by mutations in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 or PLOD1 gene.[1][3] It is inherited in an autosomal recessive manner.[1] 
Last updated: 4/26/2013

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. Ehlers-Danlos syndrome. Genetics Home Reference (GHR). May 2006; http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome. Accessed 4/26/2013.
  3. PLOD1. Genetics Home Reference (GHR). May 2006; http://ghr.nlm.nih.gov/gene/PLOD1. Accessed 4/26/2013.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Ehlers-Danlos syndrome kyphoscoliotic 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. 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. 
  • 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 kyphoscoliotic type. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • EDS 6 (formerly)
  • Ehlers-danlos syndrome oculoscoliotic type
  • Ehlers-Danlos syndrome type 6 (formerly)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.