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Diseases

Genetic and Rare Diseases Information Center (GARD)

Ehlers-Danlos syndrome, kyphoscoliosis type


Other Names for this Disease
  • EDS 6 (formerly)
  • EDS VIA
  • EDS, kyphoscoliotic type
  • EDS, oculoscoliotic type
  • Ehlers-danlos syndrome oculoscoliotic type
Related Diseases
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Tests & Diagnosis

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How is Ehlers-Danlos syndrome, kyphoscoliosis type diagnosed?

A diagnosis of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is typically based on the presence of characteristic signs and symptoms. The following tests may then be recommended to confirm the diagnosis:[1][2]
  • Urine tests and/or a skin biopsy to detect deficiencies in certain enzymes that are important for collagen formation
  • Genetic testing for a change (mutation) in the PLOD1 gene
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. Susan P Pauker, MD, FACMG; Joan Stoler, MD. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. UpToDate. December 2014; Accessed 5/21/2015.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • EDS 6 (formerly)
  • EDS VIA
  • EDS, kyphoscoliotic type
  • EDS, oculoscoliotic type
  • Ehlers-danlos syndrome oculoscoliotic type
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.