Table 2.

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

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

†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.