Table 1 Overview on EDS variants, relevant criteria and genetic background

Classic

Skin hyperextensibility

Smooth, velvety skin

AD

COL5A1, COL5A2

Widened atrophic scars

Molluscoid pseudotumors

Joint hypermobility

Subcutaneous spheroids

Complications of joint hypermobility

Muscle hypotonia, motor delay

Easy bruising

Manifestations of tissue extensibility and fragility

Surgical complications

Positive family history

Hypermobility

Hyperextensible and/or

Recurring joint dislocations

AD (?)

Unknown

smooth, velvety skin

Chronic joint/limb pain

(single reports with mutations in TNXB and COL3A1)

Generalized joint hypermobility

Positive family history

Vascular

Thin, translucent skin

Acrogeria

AD

COL3A1

Arterial/intestinal/uterine fragility or rupture

Hypermobility of small joints

Extensive bruising

Tendon and muscle rupture

Characteristic facial appearance

Talipes equinovarus

Early-onset varicose veins

Arteriovenous, carotid-cavernous sinus fistula

Pneumothorax/pneumohemothorax

Gingival recessions

Positive family history, sudden death in a close relative

Kyphoscoliotic

Generalized joint hypermobility

Tissue fragility, including atrophic scars

AR

PLOD1

Congenital hypotonia

Easy bruising

Congenital and progressive scoliosis

Arterial rupture

Scleral fragility and rupture of the ocular globe

Marfanoid habitus

Microcornea

Osteopenia/porosis

Positive family history

Arthrochalasis

Generalized joint hypermobility with recurrent subluxations

Skin hyperextensibility

AD

COL1A1, COL1A2 (recurrent mutations)

Congenital bilateral hip dislocation

Tissue fragility, including atrophic scars

Easy bruising

Hypotonia

Kyphoscoliosis

Osteopenia/porosis

Dermatosparaxis

Severe skin fragility

Soft, doughy skin texture

AR

ADAMTS2

Sagging, redundant skin

Easy bruising

Premature rupture of fetal membranes

Large hernias (umbilical, inguinal)