- Facial appearance and abnormalities: Patients with at least one of the following signs, which include but are not limited to facial pigmented nevus, short neck, webbed neck, low posterior hairline, low-set ears, micrognathia, high-voulted arch, shield-like chest, cubitus valgus, genu valgum, short 4th and 5th metacarpals, nail dysplasia, scoliosis, ptosis and strabismus, cardiovascular abnormalities (such as aortic stenosis, bicuspid aortic valve and hypertension), reproductive abnormalities (such as primary gonadal dysfunction), renal abnormalities, thyroid hypofunction, middle ear lesion, etc.