Table 1 Subtypes of EDS
Subtypes | IP | Major genetic basis | Protein | Major clinical features | |
|---|---|---|---|---|---|
1 | Classical | AD | COL5A1 | Type V collagen Type I collagen | Skin hyperextensibility Atrophic scarring Generalized joint hypermobility |
2 | Classical-like | AR | TNXB | Tenascin XB | Skin hyperextensibility Generalized joint hypermobility Easy bruisable skin |
3 | Cardiac-valvular | AR | COL1A2 | Type I collagen | Severe valvular diseases Skin involvement Joint hypermobility |
4 | Vascular | AD | COL3A1 | Type III collagen Type I collagen | Arterial rupture at a young age Spontaneous colon perforation Uterine rupture during delivery Carotid–cavernous sinus fistula |
5 | Hypermobile | AD | Unknown | Unknown | Generalized joint hypermobility Mild skin hyperextensibility |
6 | Arthrochalasia | AD | COL1A1, COL1A2 | Type I collagen | Congenital bilateral hip dislocation Severe joint hypermobility Skin hyperextensibility |
7 | Dermatosparaxis | AR | ADAMTS2 | ADAMTS-2 | Extreme skin fragility Characteristic craniofacial features |
8 | Kyphoscoliotic | AR | PLOD1, FKBP14 | LH1, FKBP22 | Congenital muscle hypotonia Congenital or early onset kyphoscoliosis Generalized joint hypermobility |
9 | Brittle Cornea syndrome | AR | ZNF469, PRDM5 | ZNF469, PRDM5 | Thin cornea Progressive keratoconus and keratoglobus Blue sclerae |
10 | Spndylodysplastic | AR | B4GALT7, B3GALT6, SLC39A13 | β4GalT7, β3GalT6, ZIP13 | Short stature Muscle hypotonia Bowing of limbs |
11 | Musculocoontractural | AR | CHST14, DSE | D4ST1, DSE | Congenital multiple contractures, Characteristic craniofacial features, Cutaneous features |
12 | Myopathic | AD or AR | COL12A1 | Type XII collagen | Congenital muscle hypotonia Proximal joint contractures Hypermobility of distal joints |
13 | Periodontal | AD | C1R, C1S | C1r, C1s | Severe and intractable periodontitis Lack of attached gingiva Pretibial plaques |