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Table 3 Ehlers-Danlos Syndromes classification (adapted from Beighton P et al. [21])

From: When flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in children

Type Clinical manifestations IPa Protein Gene
Major criteria Minor criteria    
Classic (type I/II) Skin hyperextensibility Easy bruising AD Type V procollagen (~50 %) COL5A1
Widened atrophic scarring Molluscoid pseudotumors COL5A2
Joint hypermobility Subcutaneous spheroids
Smooth and velvety skin Muscular hypotonia
Complications of joint hypermobility
Surgical complications
Positive family history
Hypermobility (type III) Generalized joint hypermobility mild skin involvement Recurring joint dislocations AD Tenascin X (~5 %) TNX-B
Chronic joint pain
Positive family history
Vascular (type IV) Excessive bruising Acrogeria AD Type III procollagen COL3A1
Thin, translucent skin Early-onset varicose veins
Arterial/intestinal/uterine fragility or rupture Hypermobility of small joints
Characteristic facial appearance Tendon and muscle rupture
Arteriovenous or carotid-cavernous sinus fistula
Pneumo (hemo)thorax
Positive family history, sudden death in close relative(s)
Kyphoscoliotic (type VI) Severe muscular hypotonia at birth Tissue fragility, including atrophic scars AR Type VIA: Lysyl hydroxylase 1 LH-1 (PLOD1)
Generalized joint laxity Easy bruising
Kyphoscoliosis at birth Arterial rupture
Scleral fragility and rupture of the globe Marfanoid habitus Type VIB: not known
Arthrochalasis (type VII A & B) Severe generalized joint hypermobility with recurrent subluxations Skin hyperextensibility AD Type I procollagen COL1A1
Congenital bilateral hip dislocation Tissue fragility, including atrophic scars COL1A2
Easy bruising
Muscular hypotonia
Mild osteopenia
Dermatosparaxis (type VII C) Severe skin fragility Soft, doughy skin texture   Procollagen-N-proteinase ADAMTS-2
Sagging, redundant skin Premature rupture of membranes
Excessive bruising Large herniae
  1. a IP inheritance pattern
  2. AD Autosomal Dominant, AR Autosomal Recessive