Abstract
Williams syndrome is a rare genetically determined syndrome in which studies have
shown a number of unusual physical and mental abnormalities. These may well lead to
an increased understanding of the causes of the syndrome in the future. The symptoms
and signs are described, especially the facial appearance, the incidence of hypercalcemia,
and the cardiovascular complications. A number of studies have been done on the mental
impairment of children with Williams syndrome, and their excessive friendliness is
often emphasized. However, in spite of their language fluency they may well have pragmatic
disorders, which warrant treatment. The learning of visual-spatial material can often
be a problem, and one that persists into adult life. The cerebral pathology shows
a number of correlations with clinical findings, such as the learning difficulties,
in particular visual processing; hyperacusis; and unexpected musical skills. The clinical
findings will suggest the diagnosis, but this may well depend on having seen similarly
affected children before; and will be confirmed by genetic studies. The prognosis
can be favorable. Treatment can help the symptoms of hypercalcemia and hypothyroidism,
and surgery for aortic supravalvular stenosis is sometimes possible.
Keywords
Williams syndrome - symptoms - signs - pathology - diagnosis - treatment
