Williams Syndrome

aka Williams-Beuren Syndrome

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

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

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

• Ocular features in Williams-Beuren syndrome: a review of the literature