Williams syndrome

external

• Synonyms

  • William syndrome
  • Williams-Beuren syndrome

• Effects

  • Mental retardation
  • Elfin facies
  • Short stature
  • Hypercalcaemia
  • Congenital pulmonary stenosis
  • Attention deficit hyperactivity disorder
  • Shortened fifth metacarpal
  • Pectus excavatum
  • Joint hypermobility
  • Prominent epicanthic folds
  • Diastema

• Parents

  • Autosomal dominant disorder

• Description

  • "1 in 8000 incidence Elastin mutation Chromosome 7q Usually sporadic"