Ehlers–Danlos Syndrome

I (Gravis)

AD

COL5A1 or
COL5A2
(Type V collagen)

Hyperextensible skin, joint laxity, skin fragility with fish-mouth scars and cigarette paper texture, + Gorlin sign (touch tip of nose with tongue), absence of frenulum (inferior labial or lingual), molluscoid pseudotumors (spongy tumors over scars/pressure points), ± mitral valve prolapse, ± premature rupture of membranes in labor (type I)

II (Mitis)

(AR)

(Tenascin X
deficiency)

III (Benign hypermobile)

AD

TNXB (Tenascin X in 10%)

Striking joint hyperextensibility (subluxations/ dislocations), minimal skin involvement, degenerative joint disease

IV (Arterialecchymotic)

AD

COL3A1
(Type III collage)

Thin translucent skin, visible veins under skin, vascular fragility (arterial, GI, uterine rupture), extensive bruising, hypermobility of small joints (hands/feet)

VI

AR

PLOD
(Lysyl hydroxylas)

Kyphoscoliosis, respiratory problems, muscle weakness, joint laxity, ocular fragility (glaucoma, retinal detachment)

VIIA, VIIB

AD

COL1A1 or
COL1A2
(Type I collagen)

Marked joint hypermobility with moderate cutaneous elasticity, dislocation of large joints (bilateral congenital hip dislocations), scoliosis, easy bruising

VIIC

AR

ADAMTS2 (Procollagen
N-proteinase)

Extremely fragile and sagging skin, easy bruising, hernias

V, VIII, X

Of note, type IX reclassified as occipital horn syndrome, allelic with Menkes disease (ATP7A, lysl oxidase defect)

Type XI reclassified as familial joint hypermobility syndrome (new type X)

V

XLR

Hyperextensible skin, orthopedic abnormalities, bruising

VIII

AD

?

Periodontitis + EDS I/II findings

X

Fibronectin deficiency

Bruising, joint hypermobility

EDS, cardiac
valvular

AR

Collagen I (α2 chain)

Heart valve defects + EDS I findings

EDS,
progeroid

AR

B4GALT7 (Galactosyl transferase 1)

Progeroid facies, osteopenia, MR, growth retardation, skin hyperextensibility, joint hypermobility