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Williams-Beuren Syndrome

Main Features

  • Dysmorphic Facies (100%)
  • Cardiovascular disease (80%)
    • supravalvular aortic stenosis most common
  • Intellectual disability (75%)
  • Idiopathic hypercalcemia (15-45%)

Eye Findings

  • Strabismus
  • Stellate, lacy iris pattern
  • Hyperopia
  • Nasolacrimal duct obstruction
  • retinal arteriolar tortuosity
  • Cataracts (usually adults)
  • Ptosis
  • Microphthalmia
  • Foveal pit
  • Hypopigmented retinal deposits

Other Findings

Etiology

  • heterzygous deletion of 7q11.23 region on chromosome 7
    • includes the ELN gene coding elastin
  • 1:7,500 live births

Resources