What are the characteristic craniofacial features of Down syndrome?

Updated: Apr 30, 2018
  • Author: Gratias Tom Mundakel, MBBS, DCH; Chief Editor: Maria Descartes, MD  more...
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Answer

On physical examination, patients with trisomy 21 have characteristic craniofacial findings, such as the following:

  • Flat occiput and a flattened facial appearance

  • Small brachycephalic head

  • Epicanthal folds

  • Flat nasal bridge

  • Upward-slanting palpebral fissures

  • Brushfield spots

  • Small nose and small mouth

  • Protruding tongue

  • Low-set, small, and dysplastic ears

  • Short neck and generous nuchal skin


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