clinical features

Last reviewed 01/2018

Clinical features include:

  • mental retardation
  • appearance:
    • microcephalic
    • moon face
    • epicanthic folds
    • an alert expression
    • hypertelorism
    • prominent ears
  • abnormal - cat-like - cry in childhood
  • spasticity
  • cardiac abnormalities - ventricular septal defects.
  • adult height is usually lower than the population mean