International Scholarly Research Notices / 2012 / Article / Tab 2

Review Article

Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations

Table 2

The Villefranche criteria for major EDS subtypes.

SubtypeMajor criteriaMinor criteria

ClassicSkin hyperextensibility
Widened atrophic scars
Joint hypermobility
Smooth, velvety skin
Molluscoid pseudotumors
Subcutaneous spheroids
Complications of joint hypermobility
Muscle hypotonia, motor delay
Easy bruising
Manifestations of tissue extensibility and fragility
Surgical complications
Positive family history

HypermobilityHyperextensible and/or smooth, velvety skin
Generalized joint hypermobility
Recurring joint dislocations
Chronic joint/limb pain
Positive family history

VascularThin, translucent skin
Arterial/intestinal/uterine fragility or rupture
Extensive bruising
Characteristic facial appearance
Hypermobility of small joints
Tendon and muscle rupture
Talipes equinovarus
Early-onset varicose veins
Arteriovenous, carotid-cavernous sinus fistula
Gingival recessions
Positive family history, sudden death in a close relative

KyphoscolioticGeneralized joint hypermobility
Congenital hypotonia
Congenital and progressive scoliosis
Scleral fragility and rupture of the ocular globe
Tissue fragility, including atrophic scars
Easy bruising
Arterial rupture
Marfanoid habitus
Positive family history

ArthrochalasisGeneralized joint hypermobility with recurrent subluxations
Congenital bilateral hip dislocation
Skin hyperextensibility
Tissue fragility, including atrophic scars
Easy bruising

DermatosparaxisSevere skin fragility
Sagging, redundant skin
Soft, doughy skin texture
Easy bruising
Premature rupture of fetal membranes
Large hernias (umbilical, inguinal)

Adapted from [4].
Note 1: no clear indication for using these criteria in the establishment of a firm clinical suspect of a specific Ehlers-Danlos syndrome subtype is specified. However, the presence of at least 1 major and 1 minor criteria is usually necessary for proceeding in molecular confirmation of Ehlers-Danlos syndrome subtypes with a known, prevalent molecular cause. The presence of at least two major criteria is strongly indicative for a definite diagnosis of the specific EDS subtype.

Article of the Year Award: Outstanding research contributions of 2020, as selected by our Chief Editors. Read the winning articles.