Vascular Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the most severe form of Ehlers-Danlos syndrome (EDS). Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal organs. Vascular EDS is usually caused by a change (mutation) in the COL3A1 gene. Rarely, it may be caused by a mutation in the COL1A1 gene. Inheritance is autosomal dominant. Treatment and management is focused on preventing serious complications and relieving signs and symptoms.

• Fragile tissues (including arteries, muscles and internal organs) that are prone to rupture
• Thin, translucent skin
• Characteristic facial appearance (thin lips, small chin, thin nose, large eyes)
• Acrogeria (premature aging of the skin of the hands and feet)
• Hypermobility of small joints (i.e. fingers and toes)
• Early-onset varicose veins
• Pneumothorax
• Easy bruising
• Joint dislocations and subluxations (partial dislocations)
• Congenital dislocation of the hips
• Congenital clubfoot
• Receding gums