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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Infants are hypotonic and have swallowing difficulties.

During childhood the following features may be noted:

  • cryptorchidism
  • genital hypoplasia
  • dolichocephaly
  • almond-shaped eyes
  • narrow face
  • small mouth with down-turned corners

In later life there is:

  • short stature
  • small hands and feet
  • severe obesity - evident from 9 to 15 months, with severe hyperphagia
  • mental retardation - the IQ is usually in the range 50 to 70
  • dysregulated temperature control resulting in hypothermia
  • non-insulin-dependent diabetes
  • sleep apnoea and cor pulmonale

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