Clinical features
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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