Williams syndrome

Print

Disease Overview

Williams syndrome is a genetic condition that affects many parts of the body. Signs and symptoms include mild to moderate intellectual disability; unique personality traits; distinctive facial features; and heart and blood vessel problems.[779] Williams syndrome is caused by a person missing more than 25 genes from a specific area of chromosome 7 (a “deletion”).[779][780] The loss of these genes contributes to the characteristic features.[779] Although Williams syndrome is an autosomal dominant condition, most cases are not inherited and occur sporadically in people with no family history of Williams syndrome. Treatments are based on each person’s signs and symptoms, as there is no cure at this time.[779][781]


Synonyms

  • Williams-Beuren syndrome
  • WBS
  • WMS
  • Deletion 7q11.23
  • Monosomy 7q11.23

For more information, visit GARD.

National Organization for Rare Disorders