Rejecting Gargoylism: Reflections on the term and its relationship to Hurler syndrome
Just over a century ago, Dr. Gertrud Hurler described what is now commonly called Hurler syndrome. This rare inherited condition became known by terms describing its cardinal physical signs; the eponymous name was not proposed. In 1936, Ellis et al. coined the term "gargoylism" to name the syndrome. We propose that the film The Hunchback of Notre Dame played a key role in the original association of Hurler syndrome with the architectural figures known as gargoyles and with the persistence of the term. Over time, due in large part to its extremely negative connotations and lack of accuracy, "gargoylism" was abandoned. It has been supplanted by a sophisticated clinical understanding of mucopolysaccharidosis type 1 (MPS1), the underlying enzymatic defect, and dramatic advances in early diagnosis and treatment.
Abbott MA, Diebold WJ, Rosengren SS. Rejecting Gargoylism: Reflections on the term and its relationship to Hurler syndrome. Am J Med Genet C Semin Med Genet. 2021 May 13. doi: 10.1002/ajmg.c.31903. Epub ahead of print.