Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Opinion
  • Published:

Of eponyms, acronyms and ... orthonyms

Nature Reviews Genetics volume 4, pages 152–156 (2003)Cite this article

Abstract

Medical genetic conditions are often known by a confusing array of synonyms, acronyms and eponyms that frequently distort historical accuracy. Expert working groups offer recommendations on preferred names, but no formal international nomenclature committee exists for this purpose. We argue that a preferred single term should be used to refer to any particular condition, and propose that this term be known as the 'orthonym'.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Figure 1: The doctors behind two eponymous syndromes.

Similar content being viewed by others

References

  1. Shows, T. B. et al. International System for Human Gene Nomenclature (1979). Cytogenet. Cell Genet. 25, 96–116 (1979).

    Article  CAS  Google Scholar 

  2. Hall, C. M. International nosology and classification of constitutional disorders of bone (2001). Am. J. Med. Genet. 113, 65–77 (2002).

    Article  Google Scholar 

  3. Huntington, G. On chorea. Med. Surg. Reporter 26, 320–321 (1872).

    Google Scholar 

  4. Waters, C. O. Practice of Medicine Vol. 2 (ed. Dunglison, R.) 312 (Lee & Blanchard, Philadelphia, 1842).

    Google Scholar 

  5. Harper, P. S. Huntington's Disease 2nd edn (Saunders Co. Ltd, London, 1996).

    Google Scholar 

  6. Von Recklinghausen, F. D. Ueber diemultiplen Fibrome der Haut und ihre Beziehung zu den multiplen Neuromen (Hirschwald, Berlin, 1882).

    Google Scholar 

  7. NIH Consensus Development Conference Statement (1988). Neurofibromatosis. Arch. Neurol. 45, 575–578 (1988).

  8. Huson, S. M. & Hughes, R. A. C. The Neurofibromatoses (Chapman & Hall, London, 1994).

    Google Scholar 

  9. Meryon, E. On fatty degeneration of the voluntary muscles [Report of the Royal Medical & Chirurgical Society, Dec 9, 1851]. Lancet 2, 588–589 (1851).

    Google Scholar 

  10. Emery, A. E. H. & Emery, M. L. H. The History of a Genetic Disease. Duchenne Muscular Dystrophy or Meryon's Disease (Royal Society of Medicine Press Ltd, London, 1995).

    Google Scholar 

  11. DiGeorge, A. M. Congenital absence of the thymus and its immunological consequences: concurrence with congenital hypothyroidism. Birth Defects Orig. Artic. Ser. IV, 116–121 (1968).

    Google Scholar 

  12. Sedlác̆ková, E. Insuficience patrohltanového závĕru jako vyvojová porucha. Cas. Lék. Cesk. 94, 1304–1307 (1955).

    PubMed  Google Scholar 

  13. Sedlác̆ková, E. The syndrome of the congenitally shortened velum. The dual innervation of the soft palate. Folia Phoniatr. 19, 441–450 (1967).

    Article  Google Scholar 

  14. Turnpenny, P. D. & Pigott, R. W. Deletion 22q11 syndrome: acknowledging a lost eponym as we say farewell to an acronym. J. Med. Genet. 38, 271–272 (2001).

    Article  CAS  Google Scholar 

  15. Jakob, A. Uber ein der multiplen sklerose klinisch nahestehnde erkrankung des zentralnervensystems (spastische pseudosklerose) mit bemerkenswerten anatomischem befunde. Mittelung eines vierten falles. Medizinische Klinische 17, 372–376 (1921).

    Google Scholar 

  16. Creutzfeldt, H. G. Uber eine eigenartige herdförmige erkrankung des zentralnervensystems. Zietschrift für die gemaste Neurologie und Psychiatrie 57, 1–18 (1920).

    Google Scholar 

  17. Knight, R. in Clinical Neurology. (eds. Swash, M. & Oxbury, J.) 825 (Churchill Livingstone, Edinburgh, 1991).

    Google Scholar 

  18. Hecht, F. & Beals, R. K. 'New' syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896. Pediatrics 49, 574–579 (1972).

    CAS  PubMed  Google Scholar 

  19. Beals, R. K. & Hecht, F. Congenital contractural arachnodactyly: a heritable disorder of connective tissue. J. Bone Joint Surg. A 53, 987–993 (1971).

    Article  CAS  Google Scholar 

  20. Asperger, H. Die 'Aunstisehen Psychopathen' im Kindesalter. Archiv fur Psychiatrie und Nervenkrankheiten 117, 76–136 (1944).

    Google Scholar 

  21. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) 4th edn (APA, Washington, 1994)

  22. Kanner, L. Autistic disturbances of affective contact. Nervous Child 2, 217–250 (1943).

    Google Scholar 

  23. Miller, J. N. & Ozonoff, S. Did Asperger's cases have Asperger disorder? A research note. J. Child Psychol. Psychiatry 38, 247–251 (1997).

    Article  CAS  Google Scholar 

  24. Mayes, S. D., Calhoun, S. L. & Crites, D. L. Does DSM-IV Asperger's disorder exist? J. Abnorm. Child Psychol. 29, 263–271 (2001).

    Article  CAS  Google Scholar 

  25. Harper, P. S. Naming of syndromes and unethical activities: the case of Hallervorden and Spatz. Lancet 348, 1224–1225 (1996).

    Article  CAS  Google Scholar 

  26. Morrison, P. J. Naming of syndromes. Lancet 348, 1662 (1996).

    Article  CAS  Google Scholar 

  27. Shevell, M. Naming of syndromes. Lancet 348, 1662 (1996).

    Article  CAS  Google Scholar 

  28. Jacoby, R. & Oppenheimer, C. Naming of syndromes. Lancet 348, 1662 (1996).

    Article  CAS  Google Scholar 

  29. Isaacs, D. & Fitzgerald, D. Acronymophilia: an update. Arch. Dis. Child. 83, 517–518 (2000).

    Article  CAS  Google Scholar 

  30. Schrander-Stumpel, C. T. R. M. What's in a name? Am. J. Med. Genet. 79, 228 (1998).

    CAS  PubMed  Google Scholar 

  31. Burn, J. Closing time for CATCH22. J. Med. Genet. 36, 737–738 (1999).

    Article  CAS  Google Scholar 

  32. McKinlay Gardner, R. J. What's in a name? Am. J. Med. Genet. 84, 178 (1999).

    Article  Google Scholar 

  33. Wuyts, W. et al. Molecular and clinical examination of an Italian DEFECT 11 family. Eur. J. Hum. Genet. 7, 579–584 (1999).

    Article  CAS  Google Scholar 

  34. Balderston, D. 'Whitman: The Problematic Orthonym'. (Paper presented at the Convention of the South Central Modern Language Association, New Orleans, 1st November, 1986).

    Google Scholar 

  35. Watson, J. D. & Crick, F. H. C. Molecular structure of nucleic acids: a structure for deoxyribose nucleic acid. Nature 171, 737–738 (1953).

    Article  CAS  Google Scholar 

  36. Davis, S. D., Schaller, J. & Wedgewood, R. J. Job's syndrome. Lancet 1, 1013–1015 (1966).

    Article  CAS  Google Scholar 

  37. Raspe, R. E. Singular Travels, Campaigns and Adventures of Baron Munchausen (Cresset Press, London, 1785).

    Google Scholar 

  38. Asher, R. Munchausen syndrome. Lancet 1, 339–341 (1951).

    Article  CAS  Google Scholar 

Download references

Acknowledgements

We thank R. Pigott who championed the case of Eva Sedlác̆ková and thereby brought these issues to our attention.

Author information

Authors and Affiliations

  1. Royal Devon and Exeter Hospital, Barrack Road, Exeter, EX2 5DW, UK

    Peter Turnpenny & Ron Smith

Authors
  1. Peter Turnpenny
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Ron Smith
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Ron Smith.

Related links

Related links

DATABASES

LocusLink

COL2A1

LMNA

Lunatic fringe

Sonic hedgehog

TP53

OMIM

Bardet–Biedl syndrome

CADASIL

Charcot–Marie–Tooth

CHARGE

congenital contractural arachnodactyly

congenital facial palsy

congenital fibrosis of the extraocular muscles

Creutzfeldt–Jakob disease

deletion 22q11.2 syndrome

Down syndrome

Duane syndrome

Duchenne muscular dystrophy

Dunnigan-type familial partial lipodystrophy

Emery–Dreifuss muscular dystrophy

floating-harbour syndrome

Huntington disease

Job syndrome

Li–Fraumeni syndrome

mandibuloacral dysplasia

Marfan syndrome

Moebius syndrome

neuroaxonal dystrophy

NF1

NF2

Prader–Willi syndrome

spondyloepimetaphyseal dysplasia Strudwick type

spondyloepimetaphyseal dysplasia with joint laxity

Thomsen's disease

FURTHER INFORMATION

Contact a family

Human Gene Nomenclature Committee

International Federation of Human Genetic Societies

London Dysmorphology Database

Who named it?

World Health Organization's International Classification of Disease Codes

Rights and permissions

Reprints and permissions

About this article

Cite this article

Turnpenny, P., Smith, R. Of eponyms, acronyms and ... orthonyms. Nat Rev Genet 4, 152–156 (2003). https://doi.org/10.1038/nrg997

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1038/nrg997

This article is cited by

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing