This site is intended for healthcare professionals

Sign in
Go to /sign-in page

You can view 5 more pages without signing in

Clinical features

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

Related pages

Create an account to add page annotations

Create a free account

Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.