Every once in a while the Internet creates a mystery. Sunday evening, Prader–Willi syndrome beat out the Gulf oil spill and “Mad Men” on Google. What’s going on?
The short answer is that the popular TV show ”Extreme Makeover: Home Edition” showed a rerun episode that features a family whose child has this illness. Our focus is the definition of this rare and tragic genetic disorder and the language associated with it.
Prader–Willi syndrome is named for the scientists who first described it in 1956, Andrea Prader and Heinrich Willi. Approximately one out of 12,000 children is born with the syndrome.
A rough description of the cause of Prader–Willi syndrome (PWS) is that certain chromosomes, “threadlike bodies that carry the genes in a linear order,” are missing or only partially complete. This results in symptoms including hyperphagia (an abnormally large appetite), learning disabilities and decreased growth.
There is no cure for PWS, just treatment of the symptoms and early genetic testing to identify the condition.
Finally, “syndrome” has a specific meaning which is useful to keep in mind: “A set of signs and symptoms that appear together and characterize a disease or medical condition.” The Greek root syn means “with” and dromos is “running course.” The “S” in AIDS stands for syndrome: acquired immunodeficiency syndrome.