Many of the characteristics found in Down syndrome infants are, to some extent, also found in the general population. Because Down syndrome is caused by a chromosomal abnormality, if Down syndrome is suspected, a karyotype (a test that gives a complete picture of the infant's chromosomes) will be performed to confirm the diagnosis.
The most common Down syndrome traits are listed below. Some infants with Down syndrome have only a few of these traits, while others have many.
- Muscle hypotonia, low muscle tone
- Flat facial profile, a somewhat depressed nasal bridge and a small nose
- Oblique palpebral fissures, an upward slant to the eyes
- Dysplastic ear, an abnormal shape of the ear
- A single deep crease across the center of the palm
- Hyperflexibility, an excessive ability to extend the joints
- Dysplastic middle phalanx of the fifth finger, fifth finger has one flexion furrow instead of two
- Epicanthal folds, small skin folds on the inner corner of the eyes
- Excessive space between large and second toe
- Enlargement of tongue in relationship to size of mouth
[Editor's Note: This site of the National Down Syndrome Society is best viewed with IE5 or Netscape browsers]
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