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NIH GARD Information: Dermatosparaxis Ehlers-Danlos syndrome

This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).

Synonyms

  • Dermatosparaxis
  • Ehlers-Danlos syndrome type 7C (formerly)
  • Ehlers-Danlos syndrome, dermatosparaxis type
  • Dermatosparaxis EDS
  • dEDS

Overview

Dermatosparaxis Ehlers-Danlos syndrome (dEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include soft, doughy skin that is extremely fragile; saggy, redundant skin, especially on the face; hernias; and mild to severe joint hypermobility.[8950][9011][9012] EDS, dermatosparaxis type is caused by changes (mutations) in the ADAMTS2 gene and is inherited in an autosomal recessive manner.[8949] Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.[8955]ild to severe joint ...

For more information, visit GARD

Last Updated: 04/21/2017

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