GTR Home > Conditions/Phenotypes > Ehlers-Danlos syndrome, type 2

Disease characteristics

Excerpted from the GeneReview: Ehlers-Danlos Syndrome, Classic Type
Ehlers-Danlos syndrome (EDS), classic type is a connective tissue disorder characterized by skin hyperextensibility, abnormal wound healing, and joint hypermobility. It includes two previously designated subtypes (EDS type I and EDS type II) that are now recognized to form a continuum of clinical findings. The skin is smooth, velvety to the touch, and hyperelastic; i.e., it extends easily and snaps back after release (unlike lax, redundant skin, as in cutis laxa). The skin is fragile, as manifested by splitting of the dermis following relatively minor trauma, especially over pressure points (knees, elbows) and areas prone to trauma (shins, forehead, chin). Wound healing is delayed, and stretching of scars after apparently successful primary wound healing is characteristic. Complications of joint hypermobility, such as dislocations of the shoulder, patella, digits, hip, radius, and clavicle, usually resolve spontaneously or are easily managed by the affected individual. Other features include hypotonia with delayed motor development, fatigue and muscle cramps, and easy bruising. Less common findings include mitral and tricuspid valve prolapse, aortic root dilatation, and spontaneous rupture of large arteries.

Associated genes

Clinical features

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  • Umbilical hernia
  • Fragile skin
  • Thin skin
  • Hypertension
  • Soft skin
  • Molluscoid pseudotumors
  • Retinal detachment
  • Recurrent urinary tract infections
  • Bladder diverticulum
  • Abnormality of the oral cavity
  • Pectus excavatum
  • Pectus carinatum
  • Congenital diaphragmatic hernia
  • Hyperextensible skin
  • Bruising susceptibility
  • Cigarette-paper scars
  • Joint hypermobility
  • Joint laxity
  • Mitral valve prolapse
  • Aortic dilatation
  • Pes planus
  • Peritonitis
  • Varicose veins
  • Aortic dissection
  • Osteoarthritis
  • Venous insufficiency
  • Neoplasm of the skin
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