Arthrochalasia Ehlers-Danlos syndrome

Print

Disease Overview

Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility; congenital hip dislocation; fragile, hyperextensible skin; hypotonia; and kyphoscoliosis (kyphosis and scoliosis).[8950][9004] EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner.[8949][13312] Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.[8955]


Synonyms

  • Arthrochalasis multiplex congenita
  • Ehlers-Danlos syndrome type 7A (formerly)
  • EDS7A (formerly)
  • Arthrochalasia EDS
  • aEDS
  • Ehlers-Danlos syndrome, arthrochalasia type

For more information, visit GARD.

National Organization for Rare Disorders