Rhinology A8


ENT manifestations in common syndromes

The typical facial features of Down’s Syndrome (trisomy 21) include:

  • Oval shaped face
  • Epicanthal folds on the upper eyelid
  • Small mouth and protruding tongue
  • Flat occiput
  • Small nose with flat bridge
  • Low-set ears

Other physical features in the body are single palmar crease and hypotonia. Most patients will have a degree of learning difficulty and other associated conditions including atrioventricular septal defect (AVSD), vision problems, hearing issues and recurrent ear infections, obesity, thyroid issues, diabetes and occasionally oesophageal atresia in the newborn.

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