- Williams-Beuren syndrome is a contiguous gene syndrome caused by a hemizygous microdeletion of DNA in 7q11.23 and its prevalence is estimated at 1 : 7500. The symptoms are variable. In addition to the typical craniofacial dysmorphia, cardiovascular malformations, renal malformations, motor and mental retardation, a characteristic personality profile, and disorders of growth and puberty are common. In contrast, hypercalcaemia and nephrocalcinosis, though frequently reported, are rarely encountered. Healthcare guidelines including diagnostic procedures and follow-up examinations as well as treatments are presented. These guidelines are based on the scientific literature and the personal experience that members of the Scientific Advisory Board of the German Williams-Beuren Syndrome Association have recorded in more than 400 patients
