Abnormalities | Frequency (percent) |
Other features | |
Cardiac malformations | Up to 50 |
Elongated transverse aortic arch | 40 to 50 |
Aortic valve abnormalities (primarily, bicuspid aortic valve) | 15 to 30 |
Coarctation of the aorta | 7 to 17 |
Pulmonary venous abnormalities | 13 to 15 |
Systemic venous abnormalities (such as persistent left superior vena cava) | 8 to 13 |
Ventricular septal defects | 1 to 4 |
Atrial septal defects | 1 to 2 |
Coronary artery abnormalities | Up to 2 |
Hypoplastic left heart | <1 |
Electrocardiographic abnormalities (minor) | 50 |
Prolonged QTc interval | 21 to 36 |
Renal and renovascular anomalies | 20 to 30 |
Collecting system malformations | Approximately 20 |
Horseshoe kidney | 10 |
Hypertension | 30 |
Ocular abnormalities | |
Myopia or hyperopia | 20 to 50 |
Strabismus | 15 to 30 |
Amblyopia | >15 |
Ptosis | 10 to 30 |
Ears and hearing | |
Recurrent otitis media | 50 to 70 |
Sensorineural hearing loss | 50 (by adulthood) |
Conductive hearing loss | 10 to 40 |
Cholesteatoma | 5 |
Skin | |
Multiple pigmented nevi | 25 |
Vitiligo | 5 |
Alopecia | 5 |
Autoimmune |
Thyroiditis (rate increases with age) | 15 to 30 |
Celiac disease | 6 |
Inflammatory bowel disease | 4 |