Working in the field of clinical genetics, we try to delineate clinical entities and to find the causes. We deal with people and try to handle them and their children with care. We describe the clinical symptoms as well as possible and use internationally agreed on terminology in speaking of cause and pathogenesis.
Patients form their own support groups and are a great help in supporting each other and the scientists in performing research. We know that parents care a great deal about what we call the condition present in their children. When patients' groups object to a certain name, we have to take that seriously. This has been the case in the deletion 22q11.2 group, where the parents strongly objected against the acronym in CATCH 22. For the same reason, we (in Europe and the USA) do not use the term Kabuki ''make up'' syndrome but we say Kabuki (or Niikawa-Kuroki) syndrome. In 1995, a new acronym was published in the European Journal of Human Genetics, namely, the ''CRASH syndrome' ' [Franssen et al., 1995]. This is an acronym consisting of manifestations caused by mutations in the gene encoding L1, located at Xq28.
The acronym was also used by the same group in their recent paper [Franssen et al., 1997]. In the 1997 David W. Smith workshop in South Carolina, two papers were presented by different groups using this acronym [Keppler-Noreuil and Kriskamurdi, 1997;Kamiguchi et al., 1997 (for paper, see Yamasaki et al., 1997)]. Being seriously involved in the field [Schrander-Stumpel, 1995] I strongly object to the use of this acronym; here we have no patient organization to stand up yet.
I want to stress the importance of using terminology that is as causally focused as possible and is the least offensive to the patients and families involved. In the case of the so-called CRASH syndrome, there is no problem at all: the simplest way of naming the condition is the L1 syndrome.