======Williams Syndrome ======
aka  Williams-Beuren Syndrome
====Main Features====
  * [[https://williams-syndrome.org.uk/40-years-of-williams-syndrome/40th-gallery/|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====
  * [[https://pubmed.ncbi.nlm.nih.gov/37589562/|Ocular features in Williams-Beuren syndrome: a review of the literature]]

{{tag>syndrome}}