Full clinical evaluation by a cardiologist, with blood pressure measured in all four limbs. Echocardiogram, including Doppler flow studies. Ultrasound of bladder and kidneys. Thyroid function tests. Multidisciplinary developmental evaluation, including assessment of motor, speech, language, personal-social, general cognitive and vocational skills.
Symptoms vary among patients.
Although, individuals with Williams syndrome may show competence in areas such as language, music, and interpersonal relations, their IQs are usually low and they are considered moderately to mildly retarded. Williams syndrome is a rare condition whose cause remains undetermined. There may be partial absence of the teeth and defective tooth enamel. Affected people may have heart and blood vessel problems, including supravalvular aortic stenosis, pulmonic stenosis and pulmonary artery stenosis. These abnormalities are thought to be due to a subtle defect in connective tissue.