Type | Clinical Features | Inheritance | Defect | Gene |
---|---|---|---|---|
I Gravis | Hyperextensible skin, hypermobile joints, cigarette paper scars | AD | Abnormal type V collagen | COL5A | IV Arterial | Thin translucent skin, marked bruising, arterial and intestinal rupture | AD | Abnormal type III collagen | COL3A1 | VI Ocular | soft, velvety skin, ocular fragility | AR | Lysyl hydroxylase deficiency | PLOD |