| Classic | Gravis type (EDS type I) Mitis type (EDS type II) | Autosomal dominant | Skin hyperextensibility Wide, atrophic scars Joint hypermobility | Smooth, velvety skin Subcutaneous spheroids Molluscoid pseudotumors Easy bruising Manifestations/complications of joint hypermobility (dislocations/subluxations), tissue hyperextensibility, and fragility (hiatal hernia, anal prolapse) Surgical complications (postoperative hernias) Muscle hypotonia with delayed motor development Positive family history | Abnormal electrophoretic mobility of the proα1(V) or proα2(V) chains of collagen type V Mutations on COL5A1 and COL5A2 Abnormal electron microscopic findings in the collagen fibril structure (“cauliflower” deformity of collagen fibrils) |
| Hypermobility | Hypermobile type (EDS type III)
| Autosomal dominant | Hyperextensible, smooth, velvety skin Generalized joint hypermobility | Recurring joint dislocations Chronic joint/limb pain Positive family history | Unknown In some cases anomalies of collagen
V have been described |
| Vascular | Arterial-ecchymotic type (EDS type IV) | Autosomal dominant | Thin, translucent skin Arterial/intestinal (colon)/uterine fragility or rupture Extensive bruising Typical facial appearance | Acrogeria Hypermobility of small joints Tendon and muscle rupture Talipes equinovarus Early-onset varicosis Arteriovenous, carotid-cavernous sinus fistulas Pneumo(hemato)thorax Gingival recession Positive family history Sudden death in close relative(s) | Structural anomalies in the proα1(III) chain of collagen type III encoded by the COL3A1 gene |
| Kyphoscoliosis | Ocular-scoliotic type (EDS type VI) | Autosomal recessive | Generalized joint laxity Severe muscle hypotonia and progressive scoliosis at birth Scleral fragility and rupture of the ocular globe after minor trauma | Tissue fragility, including atrophic scars Easy bruising Arterial rupture Marfanoid habitus Microcornea Radiologically osteopenia Positive family history | Lysyl hydroxylase deficiency |
| Arthrochalasia | Arthrochalasis multiplex congenital type (EDS types VIIA and VIIB) | Autosomal dominant | Severe joint hypermobility with recurrent subluxations Congenital bilateral hip dislocation | Skin hyperextensibility Tissue fragility and atrophic scars Easy bruising Muscle hypotonia Kyphoscoliosis Mild osteopenia | Mutations of COL1A1 or COL1A2 result in defects of proα1(I) (type A) or proα2(I) (type B) chains of collagen |
| Dermatosparaxis | Human dermatosparaxis type (EDS type VIIC) | Autosomal recessive | Severe skin fragility Sagging, redundant skin | Soft, doughy skin texture Easy bruising Premature rupture of fetal membranes Large hernias (umbilical, inguinal) | Procollagen I N-terminal peptidase deficiency |