This anomaly is manifested in females who lack an X chromosome (45, X karyotype). Coarctation of the aorta may be seen. A bicuspid aortic valve, aortic stenosis, and dilatation of the ascending aorta with the risk of aortic dissection may occur, even in the absence of a coarctation; thus, endocarditis prophylaxis is necessary.
The body habitus includes low hairline, low-set ears, deafness, small jaw, short webbed neck, short stature, broad chest with widely spaced nipples, hypertelorism, epicanthal folds, ptosis, and a shortened fifth finger.