A history of genetic diseases’ names in specialised and general dictionaries: The case of Down and Marfan syndromes (1860-2015)

Recent scientific discoveries in genetics (DNA, genes etc.) have brought about unprecedented changes in the way genetic diseases are named. While the focus was previously placed on the patient’s symptoms and physical appearance, after the advent of modern science it turned to the gene mutations responsible for the disease itself. An interesting case in point is represented by those named after the physician who first discovered them, i.e. eponyms like Down syndrome, Lejeune syndrome. These are often accompanied by popular and / or disparaging terms (e.g.: mongolism, dwarfism), especially in the case of genetic diseases with a high phenotypical impact, as well as by cause-descriptive labels (e.g.: trisomy 18, trichomoniasis). To prevent such terminological confusion, medical organisations (WHO, CIOSM) recommended that the scientific community not use ambiguous terms. This paper will consider the two sample cases of Down and Marfan syndromes to verify how such directions were received into dictionaries from the late nineteenth century up to the present day both at the specialist and popular levels. This will be conducted by analysing two corpora of specialised (e.g.: The American Heritage® Stedman's Medical Dictionary, The British Medical Association Illustrated Medical Dictionary) and general (e.g.: Webster’s International Dictionary, OED) dictionaries, which will be examined both quantitatively and qualitatively. Special attention will be paid to whether and how the evolving medical and ethical debate on terminology was reflected into the various texts at different times. Select references Canziani, T. 2011, The status of medical eponyms: advantages and disadvantages, in Loiacono, A. / Iamartino, G. / Grego, K. (eds), Teaching Medical English: Methods and Models, Monza, Polimetrica, pp. 217-230. Jana, N. / Barik S. / Arora N. 2009, “Current use of medical eponyms – a need for global uniformity in scientific publications”, BMC Medical Research Methodology, 9, pp. 18-22. Cowie, A. P. 2009, The Oxford History of English Lexicography, Oxford, Oxford University Press. Whitworth, J. A. 2007, “Should eponyms be abandoned? No”, British Medical Journal, 335, p. 425. World Health Organization 2011, International Classification of diseases, 10th revision, Geneva: World Health Organization.