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Diagnostic criteria for Ehlers-Danlos Syndromes – Beighton[9]. |
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| Type and Inheritance |
Major features |
Minor features |
Laboratory |
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| 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 |
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| Hypermobility AD |
Skin involvement (hyperextensibility and/or smooth, velvety skin) Generalised joint hypermobility |
Recurring joint dislocations Chronic joint/limb pain Positive family history |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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†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. | |||
Tofts et al. Pediatric Rheumatology 2009 7:1 doi:10.1186/1546-0096-7-1 |
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