arterial tortuosity syndrome

A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.

Signs and symptoms

• Generalized arterial tortuosity
• Long face
• Aortic tortuosity
• Joint hypermobility
• Short palpebral fissure
• Malar flattening
• Convex nasal ridge
• Downslanted palpebral fissures
• Inguinal hernia
• Flexion contracture