Which physical findings are characteristic 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

  • Small and dysplastic ears

  • Generous nuchal skin

General physical features in patients with Down syndrome may include the following [20, 21, 22, 23, 24, 25] :

  • Shortened extremities

  • Short, broad hands, with short fifth finger with hypoplasia of the middle phalanx and clinodactyly, along with single transverse palmar creases (~60% of patients)

  • Joint hyperextensibility or hyperflexibility

  • A wide space between the first and second toes (sandal gap)

  • Neuromuscular hypotonia

  • Diastasis recti

  • Dry skin

  • Premature aging

  • Wide range of intelligence quotients (IQs)

  • Congenital heart defects

These findings and features are described more fully below.


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