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Table 2 Diagnostic criteria for Ehlers-Danlos Syndromes – Beighton[9].

From: The differential diagnosis of children with joint hypermobility: a review of the literature

Type and Inheritance Major features Minor features Laboratory
Classical
AD
Skin hyperextensibility
Widened atrophic scars
Joint hypermobility
Smooth velvety skin
Molluscoid pseudotumors
Subcutaneous spheroids
Complications of joint hypermobility
(sprains, subluxations/dislocations, pes planus)
Muscle hypotonia
Delayed gross motor development
Easy bruising
Manifestations of tissue extensibility and fragility†
Postoperative hernia
Positive family history
Abnormalities in skin collagen under electron microscopy
Abnormal collagen type V
30% due to mutation in tenascin
Hypermobility
AD
Skin involvement
(hyperextensibility and/or smooth, velvety skin)
Generalised joint hypermobility
Recurring joint dislocations
Chronic joint/limb pain
Positive family history
 
Vascular
AD
Thin, translucent skin
Arterial/intestinal/uterine fragility or rupture
Extensive bruising
Characteristic facial appearance
Acrogeria
Hypermobility of small joints
Tendon and muscle rupture
Talipes equinovarus
Early onset varicose veins
Arteriovenous, carotid-cavernous sinus fistula
Pneumothorax/pneumohaemothorax
Gingival recession
Positive family history
Sudden death in close relatives
Abnormal type 3 collagen
COL3A1 mutation
Kyphoscoliotic
AR
Generalised joint laxity
Severe muscle hypotonia at birth
Scoliosis at birth, progressive
Scleral fragility and rupture of the ocular globe
Tissue fragility, including atrophic scars
Easy bruising
Arterial rupture
Marfan-like habitus
Microcornea
Radiologically considerable osteopenia
Family history
Urinalysis for lysylpyridinoline and hydroxylysylpyridinoline
Arthrochalasia
AD
Severe generalised joint hypermobility with recurrent subluxations
Congenital hip dislocation
Skin hyperextensibility
Tissue fragility, including atrophic scars
Easy bruising
Muscle hypotonia
Kyphoscoliosis
Radiologically mild osteopenia
Skin biopsy and demonstration of abnormal collagen type 1
Dermatosparaxis
AR
Severe skin fragility
Sagging, redundant skin
Soft doughy skin texture
Easy bruising
Premature rupture of fetal membranes
Large hernias (inguinal and umbilical)
Demonstration of abnormal collagen 1 chains in skin
  1. †this included hiatus hernia, anal prolapse, cervical insufficiency for a diagnosis a patient must have one or more of the major criteria and presence of minor criteria is "suggestive" of a diagnosis. Items in bold are distinguishing features of that particular subtype of Ehlers-Danlos syndrome.