Video - Williams syndrome

Williams syndrome is a chromosome disorder that results from the deletion of certain genes, including the elastin gene, on the long arm of chromosome 7. This leads to physical and developmental problems, such as a unique "elfin" facial appearance, cognitive impairment, weak visual motor and visual-spatial abilities, and hypercalcemia. The syndrome is suspected by clinical features and can be confirmed with microarray analysis or fluorescence in situ hybridization (FISH). There is no cure for Williams syndrome, and management involves treating associated conditions such as congenital heart defects, hypertension, and hypercalcemia, and providing therapy to maximize development and independence.