Williams

Incidence

 * 1/10,000

Molecular Etiology

 * 7q11.23 deletion
 * Contiguous Gene Syndrome
 * Elastin, LIMK1, [...]

Associated Birth Defects

 * Cardiac Defects
 * supravalvular aortic stenosis (SVAS)

Craniofacial Features

 * stellate irides
 * periorbital fullness
 * upturned nose
 * prominent lips

Endocrine/Growth

 * Infantile hypercalcemia
 * Nephrocalcinosis
 * Short stature

Cardiovascular

 * hypertension

Gastrointestinal

 * early feeding problems
 * chronic constipation

Musculoskeletal

 * joint limitation
 * progressive connective tissue dysplasia

Neurological

 * Intellectual Disability (Mild - Moderate)
 * Exceptional Verbal Skills
 * Irritability in infancy
 * Hyperactivity