This site is intended for healthcare professionals

Sign in
Go to /sign-in page

You can view 5 more pages before signing in

Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

In Treacher-Collins syndrome the facial appearance is characterised by:

  • palpebral fissures that slope downward toward the outer canthi
  • colobomas of the lower eyelids
  • sunken cheekbones
  • fistulas opening between the ears and the angles of the mouth
  • atypical hair growth extending towards the cheeks
  • a large mouth and receding chin.

Often there are also facial clefts, abnormalities of the ears (microtia) and deafness associated with this syndrome. There may be associated radial dysplasia.

Related pages

Create an account to add page annotations

Create a free account

Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed 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.