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Table 1 Overview on EDS variants, relevant criteria and genetic background

From: Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s)

Common variant Major criteria Minor criteria Inheritance Causative gene(s)
Classic Skin hyperextensibility Smooth, velvety skin AD COL5A1, COL5A2
Widened atrophic scars Molluscoid pseudotumors
Joint hypermobility Subcutaneous spheroids
Complications of joint hypermobility
Muscle hypotonia, motor delay
Easy bruising
Manifestations of tissue extensibility and fragility
Surgical complications
Positive family history
Hypermobility Hyperextensible and/or Recurring joint dislocations AD (?) Unknown
smooth, velvety skin Chronic joint/limb pain (single reports with mutations in TNXB and COL3A1)
Generalized joint hypermobility Positive family history
Vascular Thin, translucent skin Acrogeria AD COL3A1
Arterial/intestinal/uterine fragility or rupture Hypermobility of small joints
Extensive bruising Tendon and muscle rupture
Characteristic facial appearance Talipes equinovarus
Early-onset varicose veins
Arteriovenous, carotid-cavernous sinus fistula
Pneumothorax/pneumohemothorax
Gingival recessions
Positive family history, sudden death in a close relative
Kyphoscoliotic Generalized joint hypermobility Tissue fragility, including atrophic scars AR PLOD1
Congenital hypotonia Easy bruising
Congenital and progressive scoliosis Arterial rupture
Scleral fragility and rupture of the ocular globe Marfanoid habitus
Microcornea
Osteopenia/porosis
Positive family history
Arthrochalasis Generalized joint hypermobility with recurrent subluxations Skin hyperextensibility AD COL1A1, COL1A2 (recurrent mutations)
Congenital bilateral hip dislocation Tissue fragility, including atrophic scars
Easy bruising
Hypotonia
Kyphoscoliosis
Osteopenia/porosis
Dermatosparaxis Severe skin fragility Soft, doughy skin texture AR ADAMTS2
Sagging, redundant skin Easy bruising
Premature rupture of fetal membranes
Large hernias (umbilical, inguinal)
  1. Abbreviations: EDS Ehlers Danlos Syndrome, AD autosomal dominat, AR autosomal recessive.