Response to Feingold's: The use of inappropriate, demeaning, and perjorative terminology to describe syndromes

We agree with Dr. Feingold that the term “Pacman dysplasia” is an inappropriate term for the disease state described in the articles cited due to its insensitive tone [Saul et al., 2005; Wilcox et al., 2005; Feingold, 2006]. The disorder was originally so named based on large osteoclasts consistent with elevated bone resorption by bone marrow histology. The suggested designation “Pacman dysplasia” was then based on the video game in which little round figures consume dots [Shohat et al., 1993; Wilcox et al., 1998]. The nosological lexicon would be better served with a more precise histologic term or a biochemical designation. While we await more cases and possible gene delineation, we now know that at least one cause of this lethal skeletal dysplasia is a prenatal manifestation of mucolipidosis type II [Saul et al., 2005].

We share in the call to eliminate terms for disease description that have negative connotations for families and/or lack the precision needed for syndrome identification.