Williams syndrome (WS) is a genetic condition characterized by heart, facial and personality differences and often accompanied by mild to moderate intellectual disability. It is caused by missing material, called a microdeletion, on chromosome 7. This missing piece disrupts the gene that helps make elastin. Elastin is a protein that gives elasticity to our tissues and organs. It is found in the walls of arteries, and in the lungs, intestines, and skin. Reduced or abnormal elastin may explain the physical, medical, and facial differences seen in Williams syndrome.
About one in every 7,500 babies is born with Williams syndrome.
Learn more about physical characteristics and/or symptoms of Williams syndrome. Note: There is wide variability within individuals who have this condition.
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This information was last updated in May 2020.