Table 1

Summary of clinical features in 66 patients with mcEDS-CHST14, compared with eight reported patients with mcEDS-DSE

Clinical featuresPatients with mcEDS-CHST14 (prevalence*)Patients with mcEDS-DSE (prevalence*)P value
Sex
Female33/66 (50%)3/8 (38%)0.51
Craniofacial
Large fontanelle with delayed closure (early childhood)41/42 (98%)3/3 (100%)0.86
Downslanting palpebral fissures58/61 (95%)7/8 (88%)0.41
Hypertelorism57/62 (92%)6/7 (86%)0.60
Small mouth/microretrognathia (infancy)36/41 (88%)1/1 (100%)0.77
High palate43/50 (86%)3/5 (60%)0.14
Blue sclerae48/56 (86%)6/7 (86%)N.A.
Slender face/protruding jaw (from adolescence)34/41 (83%)1/3 (33%)0.05
Long philtrum44/55 (80%)2/6 (33%)0.01
Short palpebral fissures32/40 (80%)3/6 (50%)0.12
Ear deformities†42/53 (79%)7/8 (88%)0.60
Crowded teeth19/25 (76%)3/3 (100%)0.38
Short nose with hypoplastic columella40/54 (74%)2/7 (29%)0.01
Low-set ears37/52 (71%)0/4 (0%)0.004
Thin upper lip vermilion36/55 (65%)3/7 (43%)0.25
Facial asymmetricity (from adolescence)22/37 (59%)1/3 (33%)0.40
Midfacial hypoplasia26/45 (58%)5/6 (83%)0.24
Brachycephaly/flat occiput22/41 (54%)3/6 (50%)0.88
Cleft lip and/or palate‡3/50 (6%)0/2 (0%)0.77
Skeletal
Characteristic finger morphologies61/61 (100%)8/8 (100%)N.A.
Joint hypermobility44/44 (100%)4/6 (67%)<0.001
Multiple congenital contractures§58/59 (98%)7/8 (88%)0.10
Progressive talipes deformities52/53 (98%)7/7 (100%)0.76
Talipes equinovarus (clubfeet)¶59/62 (95%)6/8 (75%)0.04
Recurrent joint dislocations47/52 (90%)3/5 (60%)0.002
Spinal deformities41/47 (87%)4/7 (57%)0.05
Adducted thumbs**48/55 (87%)4/8 (50%)0.01
Pectus deformities38/45 (84%)3/5 (60%)0.19
Osteoporosis or osteopenia14/19 (74%)1/2 (50%)0.54
Tendon abnormalities††9/13 (69%)N.A.N.A.
Marfanoid habitus/slender build29/45 (64%)2/4 (50%)0.59
Cutaneous
Hyperextensibility51/51 (100%)4/7 (57%)<0.001
Fine or acrogeria-like or wrinkled palmar creases54/55 (98%)7/8 (88%)0.12
Bruisability48/49 (98%)5/7 (71%)0.004
Fragility44/49 (90%)2/7 (29%)<0.001
Atrophic scars41/49 (84%)2/6 (33%)0.006
Delayed wound healing29/36 (81%)2/4 (50%)0.07
Hyperalgesia to pressure29/39 (74%)0/1 (0%)0.12
Recurrent subcutaneous infections14/38 (37%)0/3 (0%)0.21
Umbilical hernia10/29 (34%)1/1 (100%)0.21
Fistula formation11/37 (30%)0/3 (0%)0.29
Cardiovascular
Large subcutaneous haematoma42/52 (81%)4/6 (67%)0.43
Valve abnormalities16/43 (37%)1/5 (20%)0.46
Congenital heart defects11/50 (22%)3/6 (50%)0.14
Enlargement of ascending aorta1/40 (3%)0/5 (0%)0.78
Respiratory
Pneumothorax4/40 (10%)0/5 (0%)0.49
Gastrointestinal
Constipation34/40 (85%)1/5 (20%)0.001
Diverticula8/23 (35%)0/4 (0%)0.18
Urogenital
Cryptorchidism in male‡‡ 21/24 (88%)2/4 (50%)0.08
Hydronephrosis§§ 19/37 (51%)1/2 (50%)N.A.
Bladder dysfunction14/28 (50%)0/2 (0%)0.19
Recurrent urinary tract infection12/37 (32%)0/2 (0%)0.36
Nephrolithiasis10/35 (29%)0/2 (0%)0.41
Inguinal hernia¶¶ 11/39 (28%)4/6 (67%)0.07
Ophthalmologic/otologic
Refractive errors40/43 (93%)4/7 (57%)0.008
Strabismus29/44 (66%)2/7 (29%)0.07
Glaucoma or elevated intraocular pressure20/41 (49%)0/7 (0%)0.02
Retinal detachment*** 15/43 (35%)0/6 (0%)0.09
Hearing impairment22/44 (50%)1/4 (25%)0.35
Sexual development related
Poor breast development in female16/20 (80%)N.A.N.A.
Hypogonadism3/22 (14%)0/2 (0%)0.65
Neurological
Ventricular abnormalities15/30 (50%)0/3 (0%)0.11
Tethered spinal cord7/18 (39%)N.A.N.A.
Hypoplasia of septum pellucidum5/22 (23%)0/3 (0%)0.40
Dandy-Walker anomaly2/20 (10%)0/3 (0%)0.64
Muscular
Hypotonia36/42 (86%)3/4 (75%)0.59
Development
Motor developmental delay48/55 (87%)3/4 (75%)0.11
  • P value was calculated through Mann-Whitney U test to examine the statistical significance of prevalence of each feature between mcEDS-CHST14 and mcEDS-DSE.

  • *The ratio of the patients who had relevant features among the patients whose data were available.

  • †Posteriorly rotated ear (n=7), prominent ear (n=4), dysplastic ear (n=2).

  • ‡Cleft lip/palate (n=1), cleft soft palate (n=1), submucous cleft palate (n=1).

  • §Fingers/interphalangeal joints/hands (n=14), hip (n=3), knee (n=2), elbow (n=1).

  • ¶Bilateral (n=45), unilateral (n=3).

  • **Bilateral (n=36), unilateral (n=2).

  • ††Abnormal insertion of the flexor muscles (n=3), a single flexor tendon to the thumbs and a single tendon to rhe dorsum of the index fingers

  • ‡‡Bilateral (n=10), unilateral (n=5).

  • §§Bilateral (n=8), unilateral (n=1).

  • ¶¶Bilateral (n=3), unilateral (n=3).

  • ***Bilateral (n=4), left (n=7), right (n=2).

  • N.A, data not available.