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updated: June 15, 2024


A syndrome, as related to genetics, is a group of traits or conditions that tend to occur together and characterize a recognizable disease. Some syndromes have a genetic cause.


Syndrome. Syndrome is a collection of distinctive features that tend to manifest in groups of individuals with the same disease. For example, Marfan syndrome shows features in three bodily systems: in the skeleton, in the heart, and in the eyes. Not everyone with Marfan syndrome will show the same exact set of features, but they will tend to cluster in these three areas. Other examples of well-known genetic syndromes are Down syndrome, Klinefelter syndrome, and fragile X syndrome.

Lucia Hindorff, Ph.D., M.P.H.
Lucia Hindorff, Ph.D., M.P.H.

Lead Extramural Training Program Director

Training, Diversity and Health Equity Office