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Down Syndrome

Abstract

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NORD is very grateful to the National Down Syndrome Society for assistance in the preparation of this report.

Synonyms of Down Syndrome

  • chromosome 21, mosaic Down syndrome
  • chromosome 21, translocation Down syndrome
  • trisomy 21

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Down syndrome is a chromosomal condition in which all or a portion of chromosome 21 appears three times (trisomy) rather than twice in cells of the body. In some individuals with this condition, only a percentage of cells may contain the chromosomal condition (mosaicism).

Symptoms and findings may vary greatly in range and degree, depending on the specific length and location of the duplicated (trisomic) portion of chromosome 21 as well as the percentage of cells containing the condition. However, in many individuals with this condition, such characteristics may include low muscle tone (hypotonia); a tendency to keep the mouth open with protrusion of the tongue; and distinctive facial characteristics including a short, small head (microbrachycephaly), upwardly slanting eyelid folds (palpebral fissures), a depressed nasal bridge, a small nose, and a relatively flat facial profile. Individuals with Down syndrome may also have unusually small, misshapen (dysplastic) ears; a narrow roof of the mouth (palate); vertical skin folds covering the inner corners of the eyes (epicanthal folds); dental abnormalities; and excessive skin on the back of the neck. Other characteristics include unusually short arms and legs; short fingers; and unusual skin ridge patterns (dermatoglyphics) on the fingers, palms, and toes. Individuals with Down syndrome may also have short stature, poor coordination, mild to severe intellectual disability, and hearing impairment.

In some cases, Down syndrome may also be characterized by structural malformations of the heart at birth (congenital heart defects). In addition, those with the condition may have an increased susceptibility to respiratory disease (e.g., pneumonia), other infectious diseases, and malignancies in which there is an increased proliferation of certain white blood cells (leukemia). Rarely do these conditions lead to potentially life-threatening complications.

Organizations related to Down Syndrome

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