Williams Syndrome

William Syndrome (7q11.23)

• Due to a deletion at chromosome band 7q11.23

Clinical Features

• Short stature
• Characteristic facies
• Transient neonatal hypercalcemia (occasionally)
• Congenital heart disease (supravalvular aortic stenosis)
• Mild-to-moderate learning difficulties
  • Failure to thrive
• Periorbital fullness with downturned, prominent lower lip
• Friendly “cocktail party” personality
• Stellate pattern of the iris
• Strabismus, and cataract
• Sensorineural hearing loss

Diagnosis

• Fluorescent in situ hybridization (FISH) for the 7q11.23 elastin gene deletion