Ehlers-Danlos Syndrome, Vascular Type - Key Clinical Features

(1) Major diagnostic criteria for the vascular type of EDS include:

• Arterial rupture
• Intestinal rupture
• Uterine rupture during pregnancy
• Family history of the vascular type of EDS

(2) Minor diagnostic criteria for the vascular type of EDS include:

• Thin, translucent skin (especially noticeable on the chest/abdomen)
• Easy bruising (spontaneous or with minimal trauma)
• Characteristic facial appearance (thin lips and philtrum, small chin, thin nose, large eyes)
• Acrogeria (an aged appearance to the extremities, particularly the hands)
• Hypermobility of small joints
• Tendon/muscle rupture
• Early-onset varicose veins
• Arteriovenous carotid-cavernous sinus fistula
• Pneumothorax/pneumohemothorax
• Chronic joint subluxations/dislocations
• Congenital dislocation of the hips
• Talipes equinovarus (clubfoot)
• Gingival recession

The combination of any two of the major diagnostic criteria should have a high specificity for EDS, vascular type; biochemical testing is strongly recommended to confirm the diagnosis.
The presence of one or more minor criteria supports the diagnosis of the vascular type of EDS but is not sufficient to establish the diagnosis.