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Health A-Z

Medical Content Created by the Faculty of the
Harvard Medical School

What Is It?

Down syndrome is a disorder caused by an abnormality of the chromosomes — the pieces of DNA containing the blueprint for the human body. Normally a person has two copies of each chromosome, but a person with Down syndrome has three copies of chromosome 21. The condition also is called trisomy 21. In a few cases, the extra copy is attached to another chromosome (translocation), or found in only some of the person's cells (mosaicism). The extra DNA produces the physical and mental characteristics of Down syndrome, which include a small head that is flattened in the back; slanted eyes; extra skin folds at the corners of the eyes; small ears, nose and mouth; short stature; small hands and feet; and some degree of mental disability. Between 3,000 and 5,000 children with Down syndrome are born each year in the United States.

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From Health A-Z, Harvard Health Publications. Copyright 2007 by the President and Fellows of Harvard College. All rights reserved. Written permission is required to reproduce, in any manner, in whole or in part, the material contained herein. To make a reprint request, contact Harvard Health Publications. Used with permission of StayWell.

You can find more great health information on the Harvard Health Publications website.


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