Williams-Beuren LPU011

Williams-Beuren Syndrome (WBS) is a developmental disorder caused by a microdeletion of 7q11.23. Patients display connective tissue problems, typically supravalvular aortic stenosis (SVAS), growth retardation, renal anomalies, transient hypercalcaemia, hyperacusis and mental retardation. Haploinsufficiency of the elastin (ELN) gene has been identified as responsible for SVAS however, of the remaining 15 genes identified within the WBS deletion none of the remaining clinical features have been conclusively attributed to any one of these genes.