Alternative Names & Classifications:
Williams Syndrome (CLINICAL), Williams-Beuren Syndrome (CLINICAL)
Description
This syndrome is caused by a spontaneous microdeletion of genetic material from a specific region on chromosome 7, removing over 25 genes including the elastin gene. The lack of elastin causes severe cardiovascular anomalies and distinct facial features. Individuals with Williams syndrome are remarkably highly sociable and often possess a striking affinity for music.