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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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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.

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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.

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