Table 6.

Overview of the clinical features of arterial tortuosity syndrome (ATS).

Craniofacial: Aged appearance; long face; hypertelorism; downslanting palpebral fissures; beaked nose; cleft palate/bifid uvula; high arched palate; micrognathia; sagging cheeks

Ocular: Keratoconus; keratoglobus; myopia

Cutaneous: Velvety texture; thin skin; hyperextensible skin; cutis laxa

Skeletal: Pectus deformity; scoliosis; arachnodactyly; joint hypermobility and pain

Cardiovascular: Aortic tortuosity; tortuosity of other arteries; abnormal implantation of the aortic branches; aortic root aneurysm; other arterial aneurysms; arterial dissections; stenosis of the pulmonary arteries; aortic stenosis

Other manifestations: Diaphragmatic hernia; inguinal hernia; respiratory symptoms; urogenital abnormalities; autonomic dysfunction