Table 1.
Summary of clinical features in 66 patients with mcEDS-CHST14, compared with eight reported patients with mcEDS-DSE
| Clinical features | Patients with mcEDS-CHST14 (prevalence*) | Patients with mcEDS-DSE (prevalence*) | P value |
| Sex | |||
| Female | 33/66 (50%) | 3/8 (38%) | 0.51 |
| Craniofacial | |||
| Large fontanelle with delayed closure (early childhood) | 41/42 (98%) | 3/3 (100%) | 0.86 |
| Downslanting palpebral fissures | 58/61 (95%) | 7/8 (88%) | 0.41 |
| Hypertelorism | 57/62 (92%) | 6/7 (86%) | 0.60 |
| Small mouth/microretrognathia (infancy) | 36/41 (88%) | 1/1 (100%) | 0.77 |
| High palate | 43/50 (86%) | 3/5 (60%) | 0.14 |
| Blue sclerae | 48/56 (86%) | 6/7 (86%) | N.A. |
| Slender face/protruding jaw (from adolescence) | 34/41 (83%) | 1/3 (33%) | 0.05 |
| Long philtrum | 44/55 (80%) | 2/6 (33%) | 0.01 |
| Short palpebral fissures | 32/40 (80%) | 3/6 (50%) | 0.12 |
| Ear deformities† | 42/53 (79%) | 7/8 (88%) | 0.60 |
| Crowded teeth | 19/25 (76%) | 3/3 (100%) | 0.38 |
| Short nose with hypoplastic columella | 40/54 (74%) | 2/7 (29%) | 0.01 |
| Low-set ears | 37/52 (71%) | 0/4 (0%) | 0.004 |
| Thin upper lip vermilion | 36/55 (65%) | 3/7 (43%) | 0.25 |
| Facial asymmetricity (from adolescence) | 22/37 (59%) | 1/3 (33%) | 0.40 |
| Midfacial hypoplasia | 26/45 (58%) | 5/6 (83%) | 0.24 |
| Brachycephaly/flat occiput | 22/41 (54%) | 3/6 (50%) | 0.88 |
| Cleft lip and/or palate‡ | 3/50 (6%) | 0/2 (0%) | 0.77 |
| Skeletal | |||
| Characteristic finger morphologies | 61/61 (100%) | 8/8 (100%) | N.A. |
| Joint hypermobility | 44/44 (100%) | 4/6 (67%) | <0.001 |
| Multiple congenital contractures§ | 58/59 (98%) | 7/8 (88%) | 0.10 |
| Progressive talipes deformities | 52/53 (98%) | 7/7 (100%) | 0.76 |
| Talipes equinovarus (clubfeet)¶ | 59/62 (95%) | 6/8 (75%) | 0.04 |
| Recurrent joint dislocations | 47/52 (90%) | 3/5 (60%) | 0.002 |
| Spinal deformities | 41/47 (87%) | 4/7 (57%) | 0.05 |
| Adducted thumbs** | 48/55 (87%) | 4/8 (50%) | 0.01 |
| Pectus deformities | 38/45 (84%) | 3/5 (60%) | 0.19 |
| Osteoporosis or osteopenia | 14/19 (74%) | 1/2 (50%) | 0.54 |
| Tendon abnormalities†† | 9/13 (69%) | N.A. | N.A. |
| Marfanoid habitus/slender build | 29/45 (64%) | 2/4 (50%) | 0.59 |
| Cutaneous | |||
| Hyperextensibility | 51/51 (100%) | 4/7 (57%) | <0.001 |
| Fine or acrogeria-like or wrinkled palmar creases | 54/55 (98%) | 7/8 (88%) | 0.12 |
| Bruisability | 48/49 (98%) | 5/7 (71%) | 0.004 |
| Fragility | 44/49 (90%) | 2/7 (29%) | <0.001 |
| Atrophic scars | 41/49 (84%) | 2/6 (33%) | 0.006 |
| Delayed wound healing | 29/36 (81%) | 2/4 (50%) | 0.07 |
| Hyperalgesia to pressure | 29/39 (74%) | 0/1 (0%) | 0.12 |
| Recurrent subcutaneous infections | 14/38 (37%) | 0/3 (0%) | 0.21 |
| Umbilical hernia | 10/29 (34%) | 1/1 (100%) | 0.21 |
| Fistula formation | 11/37 (30%) | 0/3 (0%) | 0.29 |
| Cardiovascular | |||
| Large subcutaneous haematoma | 42/52 (81%) | 4/6 (67%) | 0.43 |
| Valve abnormalities | 16/43 (37%) | 1/5 (20%) | 0.46 |
| Congenital heart defects | 11/50 (22%) | 3/6 (50%) | 0.14 |
| Enlargement of ascending aorta | 1/40 (3%) | 0/5 (0%) | 0.78 |
| Respiratory | |||
| Pneumothorax | 4/40 (10%) | 0/5 (0%) | 0.49 |
| Gastrointestinal | |||
| Constipation | 34/40 (85%) | 1/5 (20%) | 0.001 |
| Diverticula | 8/23 (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 dysfunction | 14/28 (50%) | 0/2 (0%) | 0.19 |
| Recurrent urinary tract infection | 12/37 (32%) | 0/2 (0%) | 0.36 |
| Nephrolithiasis | 10/35 (29%) | 0/2 (0%) | 0.41 |
| Inguinal hernia¶¶ | 11/39 (28%) | 4/6 (67%) | 0.07 |
| Ophthalmologic/otologic | |||
| Refractive errors | 40/43 (93%) | 4/7 (57%) | 0.008 |
| Strabismus | 29/44 (66%) | 2/7 (29%) | 0.07 |
| Glaucoma or elevated intraocular pressure | 20/41 (49%) | 0/7 (0%) | 0.02 |
| Retinal detachment*** | 15/43 (35%) | 0/6 (0%) | 0.09 |
| Hearing impairment | 22/44 (50%) | 1/4 (25%) | 0.35 |
| Sexual development related | |||
| Poor breast development in female | 16/20 (80%) | N.A. | N.A. |
| Hypogonadism | 3/22 (14%) | 0/2 (0%) | 0.65 |
| Neurological | |||
| Ventricular abnormalities | 15/30 (50%) | 0/3 (0%) | 0.11 |
| Tethered spinal cord | 7/18 (39%) | N.A. | N.A. |
| Hypoplasia of septum pellucidum | 5/22 (23%) | 0/3 (0%) | 0.40 |
| Dandy-Walker anomaly | 2/20 (10%) | 0/3 (0%) | 0.64 |
| Muscular | |||
| Hypotonia | 36/42 (86%) | 3/4 (75%) | 0.59 |
| Development | |||
| Motor developmental delay | 48/55 (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.