Open Access
Table II
The 2017 international classification of EDS (Malfait et al., 2017 [2]). AD: autosomal dominant; AR: autosomal recessive.
| Dysfunction/Type of EDS | Major clinical manifestations | Genetic mutation | Heredity | Frequency | OMIM |
|---|---|---|---|---|---|
| A - Collagen structure defect | |||||
| Classic type | Hyperextensibility of the skin Atrophic scars Joint hypermobility |
COL5A1/2 | AD | 1–9 per 100,000 | 130000 130010 |
| Vascular type | Thin and translucent skin Fragility or rupturing of the arteries, intestines or uterus Characteristic aspect of the face |
COL3A1 | AD | 1–9 per 100,000 | 130050 |
| Cardiovascular type | Severe cardiovascular dysfunction Hyperlaxity of the skin Joint hypermobility |
COL1A2
|
AR | <1 per 1,000,000 | 225320 |
| Arthoclastic type | Severe joint hypermobility with frequent subluxations Congenital bilateral hip dislocation |
COL1A1/2 | AD | <1 per 1,000,000 | 130060 |
| Dermatosparaxis | Extreme skin fragility Hyperlaxity of the skin Bruising of the skin |
ADAMTS2 | AR | <1 per 1,000,000 | 225410 |
| B - Failure of folding and crosslinking of collagen | |||||
| Kyphoscoliotic type | Loose joints Congenital severe muscular hypotonia Congenital scoliosis Fragility of the sclera Rupturing of the eyeball |
PLOD1
FKBP14 |
AR | Unknown | 225400 |
| C - Fault in the structure and function of the myomatrix | |||||
| Pseudo-classical types | Hyperlaxity of the skin Joint hypermobility Cutaneous hemorrhagic manifestations |
TNXB | AR | <1 per 1,000,000 | 606408 |
| Myopathic type | Congenital hypotonia Proximal articular malpositions Distal articular hyperlaxity |
COL12A1 | AR/AD | <1 per 1,000,000 | 616471 |
| D - Glycoaminoglycan biosynthesis deficiency | |||||
| Musculocontractural type | Congenital malpositions Craniofacial anomalies Skin abnormalities (hyperlaxity, fragility, spontaneous bruising) |
CHST14/DSE | AR | <1/1,000,000 | 601776/615539 |
| Spondylodysplastic type | Delays in growth Hypotonia Joint malpositions |
B4GALT7 B2GALT6 SLC39A13 |
AR | <1/1,000,000 | 130070/615349 |
| E - Faults in the complement path | |||||
| Periodontal type | Aggressive Periodontitis Lack of attached gums Pre-tibial functions Family history, first degree |
C1R | AD | Unknown | 130080 617174 |
| F - Intracellular process defects | |||||
| Spondylocheirodysplastic type | Delays in growth Hypotonia Joint malpositions |
SLC39A13 B4GALT7 B2GALT6 |
AR | <1/1,000,000 | 612350 |
| Fragile cornea syndrome | Corneal fragility Early keratoconus or keratoglobus Bluish Sclera |
ZNF469 PRDM5 |
AR | <1/1,000,000 | 229200 614170 |
| G - Unresolved EDS Forms | |||||
| Hypermobile type | Hyperextensibility of the skin Generalized joint hypermobility Chronic arthritis |
Unknown | AD | 1–5/10,000 | 130020 |
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