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Table 1 Major and minor criteria of spEDS according to the 2017 EDS nosology [1, 2] and comparison to LRS [9]

From: Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome

  Present patient spEDS-B4GALT7 (%)a spEDS-B3GALT6 (%) spEDS-SLC39A13 (%) Total spEDS (%) LRS (%)
MAJOR CRITERIA  
Short stature + 8/8 (100) 26/36 (72.2) 7/8 (87.5) 41/52 (78.8) 19/19 (100)
Muscle hypotonia + 8/8 (100) 16/36 (44.4) 6/8 (75.0) 30/52 (57.6) na
Bowing of limbs 5/8 (62.5) 3/36 (8.3) na 8/44 (18.1)
MINOR CRITERIA  
Hyperextensible, soft, doughy, and thin skin + 7/8 (87.5) 19/36 (52.7) 6/8 (75.0) 32/52 (61.5) 21/22 (95.4)
Pes planus/equinovarus/valgus + 6/8 (75.0) 21/36 (58.3) 6/8 (75.0) 33/52 (63.4) na
Delayed motor development + 7/8 (87.5) 7/36 (19.4) 14/52 (26.9) na
Osteopenia + 5/8 (62.5) 12/36 (33.3) 3/8 (37.5) 20/52 (38.4)
Delayed cognitive development 5/8 (62.5) 11/36 (30.5) 16/52 (30.7) 12/22 (54.5)
  1. na not available
  2. apresent patient included