Ehlers-Danlos syndrome

external

• Synonyms

  • EDS

• Causes

  • COL1A1 gene mutation

• Effects

  • Joint hypermobility
  • Cigarette-paper thin skin
  • Fragile blood vessel
  • Blue sclera
  • Posterior vitreous detachment
  • Mitral valve prolapse
  • Aortic aneurysm
  • Dislocation of lens
  • Angioid streak
  • Inguinal hernia
  • Myopia
  • Fish-mouth ulcer
  • Pseudotumour under scar
  • Aortic dissection
  • Achalasia cardia
  • Gorlin sign
  • Posterior scalloping
  • Lop ears

• Parents

  • Genetic collagen disease
  • Autosomal dominant disorder
  • Congenital skin disease

• Children

  • Ehlers-Danlos syndrome IV
  • Ehlers-Danlos syndrome VI
  • Ehlers-Danlos syndrome IX