Physical exam for Down syndrome

The physical examination of a baby who is thought to have Down syndrome includes:

  • Examining the baby's body for the physical features of Down syndrome, such as a flat face, eyes that slant up, a crease in the center of the palm (simian crease), abnormally shaped ears, a tongue that sticks out, and loose muscles and joints.
  • Examining the ears, nose, and throat for respiratory infections.
  • Listening to the heart for possible defects. Even if no unusual heart sounds are heard, the baby needs a complete heart evaluation by a heart specialist and a pediatric echocardiogram. It is very important to have this done so that heart problems can be detected early.
  • Examining the eyes for cataracts, strabismus, and nystagmus. Examination for cataracts is routinely done during the newborn stage (birth to 1 month of age). Examination for strabismus and nystagmus may be delayed but should be done by the time the baby is 6 months old.
  • Evaluating the nervous system by testing the baby's reflexes.

Last Updated: August 4, 2009

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