Ehlers-Danlos Syndrome, Kyphoscoliotic Type - Key Clinical Features

Major clinical features

  • Friable, hyperextensible skin, thin scars, easy bruising
  • Generalized joint laxity
  • Severe muscle hypotonia at birth
  • Progressive scoliosis, present at birth or within the first year of life
  • Scleral fragility and rupture of the globe

Minor clinical features

  • Widened, atrophic scars
  • Marfanoid habitus
  • Rupture of medium-sized arteries
  • Mild to moderate delay of attainment of gross motor milestones

The presence of three major clinical features is highly suggestive of EDS, kyphoscoliotic form