Classical Ehlers-Danlos syndrome

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Disease Overview

Classical Ehlers-Danlos syndrome (EDS) is a genetic connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include skin hyperextensibility, abnormal wound healing, and joint hypermobility.[8950][8990] More than 90% of people with classical EDS have mutations in COL5A1 or COL5A2, two genes which encode type V collagen. In rare cases, mutations in the gene encoding type I collagen, COL1A1 gene, may be found.[13312] The condition is inherited in an autosomal dominant manner.[8990] Treatment and management is focused on preventing serious complications and relieving associated symptoms.[8990][8955]


Synonyms

  • Ehlers-Danlos syndrome, classic type
  • Classic Ehlers-Danlos syndrome
  • Ehlers-Danlos syndrome type 1 (formerly)
  • Ehlers-Danlos syndrome type 2 (formerly)

For more information, visit GARD.

National Organization for Rare Disorders