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.

Check back weekly for new posts and up-to-date information from Sturge-Weber syndrome expert Dr. Anne Comi.

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