Last Updated:
April 2011

What's in a Name?

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by Len Leshin, MD, FAAP

Copyright 2003, 2011 All rights reserved
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The "Mongol" Debate

In 1866, Dr John Langdon Down published his first work on a group of children in his care at the Earlswook Asylum in Surrey, England. It was an intuitive paper for his discovery that there was a subset of people with mental retardation that had a common appearance and characteristics; however, it was also shortsighted as Down characterized the appearance of these people as greatly resembling people of the Mongoloid race. At the time, the popular thinking of the races were that there were five distinct races: Caucasian, Mongolian, Ethiopian, Malaysian and Native American.(1) In Down's first paper (2), he describes one child as:
"The boy's aspect is such, that is difficult to realize that he is the child of Europeans; but so frequently are these characters presented, that there can be no doubt that these ethnic features are the result of degeneration."
Send Me Email This reflects upon the popular notion of the day among Europeans that the "Caucasian race" was superior to the "Mongoloid race" in intellect. While this racial division disappeared years later, the terms "Mongolism" and "Mongoloid" persisted till the 1970s.

While it is almost impossible to determine when the term "Down's Syndrome" was first used, scientific publications in the 1960s make it very clear that there was a debate in the scientific community about the name at that time. In 1961, a letter was written to the prestigious British scientific journal Lancet by 19 scientists requesting that the term "mongolism" be abandoned in favor of one of the following terms: "Landon-Down's anomaly," "Down's syndrome or anomaly," "congenital acromicria (medicalese for "growth deficiency"), or "trisomy 21 anomaly(3)." The authors of the letter pointed out that "the increasing participation of Chinese and Japanese investigators in the study of the condition imposes on them the use of an embarrassing term."(4) By 1964, Lancet editors had agreed to call the condition "Down's syndrome."

The debate still went on through the decade. In 1966, a group of specialists met in London to commemorate the centennial anniversary of Down's paper; the results of the symposium were published under the title Mongolism.(5) Included in the volume was a transcript of some of the discussions, including one on the name of the condition; I include parts of it here as to give an example of the thinking on this topic at the time:

     Dr Cummins: The terms applied to mongolism are inconsistently used: "mongolism", "Down('s) syndrome" (possessive or non-possessive), "Langdon(-)Down('s) syndrome" (hyphenated or non-hyphenated, possessive or non-possessive). Concerning the use of possessive or non-possessive forms in the eponyms of syndromes, one of the standard medical dictionaries lists 140 eponyms for syndromes; of these 67 are in the possessive and 73 in the non-possessive form. Our group might well formulate a statement on terminology. Objections have been raised against the terms "mongolism", "mongol" and "mongoloid" because it is said that they resurrect the idea of racial affinity. I think this is an imagined difficulty. We use many terms containing embalmed errors from the past. The words "aorta" and "artery" never arouse in us thoughts of these vessels as air tubes as it was with the ancients; we just use the words as words. And the same applies to the word mongolism.
     Dr Matsunaga: I am not happy with the words mongol, mongolism and mongoloid, although I agree that they are convenient to use. The basic question is this: is it ever justified in medical terminology to misapply a name, especially a geographical one, to a disease when this name becomes inappropriate because of increased understanding of the underlying pathology? I think, also, that most physicians, as an ethical principle, avoid the use of nicknames. If this is true, we must decide on a suitable alternative for mongolism. Down's syndrome or anomaly, like Klinefelter's and Turner's syndromes, are perfectly acceptable terms. I can fully understand the difficulty of changing already well-established names, but the English-speaking peoples have a responsibility to resolve this technical problem.
     Dr Forssman: I do not think we should use nicknames, they may be both misleading and derogatory. For example, the word cretin originally described a man who came from Crete, and gargoyle is a terrible nickname when we consider its origin. Attempts to discard the word mongol have been unsuccessful. I use Down's syndrome, but when I do I am often questioned by physicians about this "new" syndrome! This is in spite of the vast quantity of literature published on the subject over the past ten years.
     Dr Benda: I am surprised that in the United Kingdom the term mongol rather than mongoloid is used: mongoloid is at least a descriptive expression indicating the mongol-like appearance; it is certainly inappropriate to identify patients with Down's syndrome with a racial group - the Mongols...The term Down's syndrome at least gives the idea that this is a condition which may affect a child to different degrees. We need a new dynamic concept of this syndrome to further our scientific research.
     Dr Penrose: I use the term mongol and have taken refuge from the accusation of racial discrimination because the Down's-syndrome type of mongol is not spelt with a capital letter, whereas the racial type of Mongol is. The difficulties start over what to call a particular patient. One needs a clear and short expression. and everybody knows what is meant by a mongol; otherwise one may have to use circumlocution, as Professor Polani noted, and people just will not do this. The Russians have said Down syndrome for fifty or sixty years and even call the patients "Downs"!
    Dr Mellman: The term used for this disorder by scientists should not be an eponym or a nickname but should convey information. Expressions such as "trisomy 21" or "translocation-type trisomy 21'' are neither eponymous nor euphemistic.
As you can well guess, no formal statement on terminology came out of this meeting.

However, one of the key events leading to the disappearance of the term "mongolism" occurred in 1965, when Dr. L. S. Penrose, the British geneticist, was awarded a prize by the World Health Organization for his contributions to the understanding of "mongolism." The delegation from the nation of Mongolia, which had become a member of the World Health Organization in 1962, made an informal request to the WHO director that the objectionable terms "mongolism" and "mongol" be dropped. They never again appeared in WHO publications.(6) The same trend continued in scientific journals and textbooks through the rest of the 1960s.



Many medical conditions and diseases have been named after a person; this type of name is called an eponym. There has been a long-standing debate in the scientific community over whether or not to add the possessive form to the names of eponyms. For quite a long time, there was no established rule as to which to use, but general usage decided which form is acceptable. So you saw both possessive and non-possessive names in use.

In 1974, a conference at the US National Institute of Health attempted to make a standard set of rules regarding the naming of diseases and conditions. This report, printed in the journal Lancet, stated: "The possessive form of an eponym should be discontinued, since the author neither had nor owned the disorder."(7) Since that time, the name has traditionally been called "Down syndrome" in North America (note that "syndrome" isn't capitalized). However, the change has taken longer to occur in Great Britain and other parts of Europe, for reasons that aren't quite clear to me.

21 or G?

You may have noticed the reference to "trisomy 21" above in the 1966 symposium. The term "trisomy" refers to the presence of three chromosomes. So trisomy 21 is the medical designation for the cause of Down syndrome. However, documents from the 1960s also refer to "trisomy G." This name comes from a short-lived nomenclature for chromosomes proposed in 1960 by Klaus Patau. In this nomenclature, the chromosomes are not numbered but sorted into specific groups. The "G" group referred to the small, acrocentric chromosomes that later were labelled chromosomes 21, 22 and Y. This system fell into disuse by the 1970s.  


  1. You can read more about Johann Blumenbach's historical division of the races in this essay by Stephen Jay Gould. (Registration required to read the article.)
  2. "Observations on an ethnic class of idiots."
  3. The discovery that Down syndrome was caused by trisomy of the 21st chromosome was published in 1959.
  4. Lancet, 1961, i:775.
  5. Mongolism (Ciba Foundation Study Group No. 25), Wolstenholme GE ed., Little Brown and Co., 1967.
  6. Medical History, 1979, 23:104.
  7. Lancet, 1974, i:798.
  8. International Standing Committee on Human Cytogenetic Nomenclature. Lisa G. Shaffer, Niels Tommerup, 2005.

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