Williams syndrome

Can anyone tell me if ALL people with Williams Syndrome have cardiac abnormalities and some degree of mental retardation? My daughter seems to fit all other symptoms; she has learning differences,or disabilities, but isnt mentally retarded. she also has never been diagnosed with pulmonary stenosis or any other cardiac condition;mind you, she has never been tested,, as there havent been any symptoms of cardiac involvement....but most other symptoms seem to fit her to a "T" ...so i am wondering if the lack of having these two major components would exempt a dx of Williams syndrome?

[Dr Santos]

Hi,
How is your daughter? Cardiac symptoms may not be present but result from tests such as Echocardiography combined with Doppler ultrasound may help with the diagnosis. Aside from the symptoms, signs to be ruled out include high blood pressure, high blood calcium level, farsightedness and unusual pattern ("stellate" or star-like) in iris of the eye. Additional diagnostic blood  tests like blood test for missing chromosome (FISH test) may also be done.  It is best that you have her checked for proper evaluation and diagnosis. Take care and best regards.