Table 3 Minor diagnostic criteria (2017 international classification of the Ehlers-Danlos syndromes criteria).

From: Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood

Minor criteria

All patients

Female

Male

F vs M

Index

Relatives

IC vs R

n = 63

n = 30

n = 33

P-value

n = 23

n = 40

P-value

≥1 minor criteria present

56 (93%)a

27 (96%)a

29 (91%)a

ns

21 (95%)

35 (92%)a

ns

Median number of minor criteria

3 (2–4)

3 (2–3)

3 (2–4)

ns

3 (2.5–4)

3 (2–3)

ns

Excessive bruising

51 (82%)a

26 (87%)

25 (78%)a

ns

19 (83%)

32 (82%)a

ns

Thin translucent skin

42 (76%)a

22 (79%)a

20 (74%)a

ns

18 (81%)a

24 (73%)a

ns

Characteristic facial appearanceb

28 (57%)a

13 (57%)a

15 (58%)a

ns

14 (70%)a

14 (48%)a

ns

Spontaneous pneumothorax

5 (8%)

1 (3%)

4 (12%)

ns

2 (8%)

3 (7%)

ns

Acrogeria

3 (5%)

1 (3%)

2 (6%)

ns

2 (8%)

1 (2%)

ns

Talipes equinovarus

7 (11%)

5 (17%)

2 (6%)

ns

2 (8%)

5 (12%)

ns

Congenital hip dislocation

1 (2%)

1 (3%)

0 (0%)

ns

1 (4%)

0 (0%)

ns

Hypermobility of small joints

40 (87%)a

18 (82%)a

22 (92%)a

ns

17 (94%)a

23 (82%)a

ns

Tendon rupture

3 (5%)

1 (3%)

2 (6%)

ns

0 (0%)

3 (8%)

ns

Gingival recession and fragility

9 (27%)a

6 (35%)a

3 (19%)a

ns

4 (27%)a

5 (28%)a

ns

Early onset varicose veins

1 (2%)

0 (0%)

1 (3%)

ns

1 (4%)

0 (0%)

ns

  1. Percentages were calculated from available data.
  2. F female, M male. IC index case, R relative.
  3. aDenotes percentages calculated from known data, excluding individuals for whom there were no/insufficient comment on presence of specific minor diagnostic criteria.
  4. bCharacteristic facial appearance was determined by presence of prominent eyes and/or a combination of narrow nose, thin vermilion of the lips, micrognathia and tethered earlobes. For those where specific facial features were described, n = 26 (53.1%) had prominent/deep-set eyes, n = 7 (14.3%) had a narrow nose, n = 2 (4.1%) had thin lips, and n = 14 (28.6%) had tethered earlobes.