Williams Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A rare syndrome caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1 and LIMK1 genes. It is characterized by distinctive facial appearance (elfin facies), mild-to-moderate mental retardation, cheerfulness, cardiovascular abnormalities and infantile hypercalcemia.

**Synonyms:** - Williams syndrome - Williams-Beuren Syndrome - Williams-Beuren Syndrome - Williams-Beuren Syndrome (WBS)