Table 3 Ehlers-Danlos Syndromes classification (adapted from Beighton P et al. [21])

Classic (type I/II)

Skin hyperextensibility

Easy bruising

AD

Type V procollagen (~50 %)

COL5A1

Widened atrophic scarring

Molluscoid pseudotumors

COL5A2

Joint hypermobility

Subcutaneous spheroids

Smooth and velvety skin

Muscular hypotonia

Complications of joint hypermobility

Surgical complications

Positive family history

Hypermobility (type III)

Generalized joint hypermobility mild skin involvement

Recurring joint dislocations

AD

Tenascin X (~5 %)

TNX-B

Chronic joint pain

Positive family history

Vascular (type IV)

Excessive bruising

Acrogeria

AD

Type III procollagen

COL3A1

Thin, translucent skin

Early-onset varicose veins

Arterial/intestinal/uterine fragility or rupture

Hypermobility of small joints

Characteristic facial appearance

Tendon and muscle rupture

Arteriovenous or carotid-cavernous sinus fistula

Pneumo (hemo)thorax

Positive family history, sudden death in close relative(s)

Kyphoscoliotic (type VI)

Severe muscular hypotonia at birth

Tissue fragility, including atrophic scars

AR

Type VIA: Lysyl hydroxylase 1

LH-1 (PLOD1)

Generalized joint laxity

Easy bruising

Kyphoscoliosis at birth

Arterial rupture

Scleral fragility and rupture of the globe

Marfanoid habitus

Type VIB: not known

Microcornea

Osteopenia

Arthrochalasis (type VII A & B)

Severe generalized joint hypermobility with recurrent subluxations

Skin hyperextensibility

AD

Type I procollagen

COL1A1

Congenital bilateral hip dislocation

Tissue fragility, including atrophic scars

COL1A2

Easy bruising

Muscular hypotonia

Kyphoscoliois

Mild osteopenia

Dermatosparaxis (type VII C)

Severe skin fragility

Soft, doughy skin texture

Procollagen-N-proteinase

ADAMTS-2

Sagging, redundant skin

Premature rupture of membranes

Excessive bruising

Large herniae