Sturge-Weber: A Syndrome, or a Disease?
SEPTEMBER 22, 2016
Question: With the new research and discovery of the gene that causes Sturge-Weber, would it ever be considered a disease instead of a syndrome?
Answer: Here is the Oxford Dictionary definition of Disease:
A disorder of structure or function in a human, animal, or plant, especially one that produces specific symptoms or that affects a specific location and is not simply a direct result of physical injury.
Here is the Oxford Dictionary definition of Syndrome:
A group of symptoms which consistently occur together, or a condition characterized by a set of associated symptoms.
Given the new research and discovery of the gene that causes Sturge-Weber syndrome (SWS), many of the ways that we think about SWS are being reconsidered. Both “disease” and “syndrome” are correct terms. We know that SWS results from a specific mutation that causes a specific disorder in a protein’s function. That means that SWS is a disease. This mutation also causes a group of symptoms which consistently occur together; therefore, SWS is also a syndrome. The research community will likely think of SWS more from the prospective of its being a disease. From a clinical standpoint, it is helpful to recognize that, as a syndrome, there are features and symptoms that frequently go together and therefore need to be recognized, diagnosed and treated properly.
Read our Archived Updates for more information on past questions and answers.
Want to know more about the exciting research going on at the Kennedy Krieger Institute to discover new therapies for Sturge-Weber syndrome?
Visit our Current Research section.
Institute Discovers the Cause of Sturge-Weber
To learn more about our recent discovery View our press coverage
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