Ehlers-Danlos Syndrome

• many different types
• Characteristics
  • hypermobile ears
  • velvety 'chamois' skin
  • increased palmar creases
  • cigarette paper scars
  • easy bruisability
  • joint hyperextensibility, scoliosis
  • microcornea; telecanthus, epicanthus inversus

Several different clinical and biochemical subtypes (don't need to memorize)

• EDS I: skin hyperextensible, soft, easily bruised, dystrophic scarring
• II: same as I, but milder
• III Mostly joint hypermobility; skin stretchy; a relatively benign condition (think circus)
• IV: severe bruising; think skin, prominent veins, vascular rupture, and features of premature aging
• V: X-linked. Cardinal features in a moderate degree
• VI: Eye involvement; perforation and retinal detachment. Scoliosis
• VII dermatosparaxis/arthrochalasias multiplex congenita. The skin is extremely fragile and tears easily
• VIII: periodontitis type
• IX (former): Occipital horn syndrome (now)
• X: fibronectin abnormality

CHLA board review course 2005
Baraitser and Winter, 1996. Color Atlas of Congenital Malformation Syndromes