LANGDON DOWN AND DOWN'S SYNDROME (1828 - 1896)
Conor Ward (Republic of Ireland)
designation Down's syndrome originated in the decision
by the Editor of the Lancet in 1961 to opt for this description
for the condition previously described as Mongolian Idiocy.
A group of 20 of the world's leading geneticists had written
suggesting that the condition be known henceforth as Langdon
Down Anomaly, Down's Syndrome, or Anomaly or Congenital
designation was confirmed by the World Health Organisation
Down was a brilliant medical student in the London Hospital
and after two years as the hospital obstetric resident he
was appointed Medical Superintendent of the Royal Earlswood
Asylum for Idiots in Redhill, Surrey in 1856.
in post he also identified other disorders including
the Prader Willi Syndrome. In 1866 he opened his
own private residential centre in Normansfield. This
catered for a wide range of intellectual disabilities.
His main publication on intellectual disability was
in the Lettsomian Lectures which he delivered for
the Medical Society of London in 1887.
Langdon Down was the youngest son of a village grocer
in Torpoint in Cornwall. He worked in his father's
shop until he was 18 years old. Having first qualified
in pharmacy he entered the London Hospital Medical
School at the age of 25 where he was a triple gold
medallist. Immediately after taking his degree he
was appointed Medical Superintendent of the Royal
Earlswood Asylum of Idiots. In parallel he was appointed
Assistant Physician at the Royal London Hospital.
Earlswood he was influenced by Dr John Conolly, the
reformer of psychiatric hospitals and Official Visitor
to Earlswood. Conolly wished to pursue the correlation
between the external contours of the skull and specific
intellectual and psychological characteristics.
Down began by examining the palates and tongues of the residents
and in his 1862 report he said "in 16 cases the tongue presented
a sodden appearance and exhibited transverse furrows on its
dorsal surface; in all these patients one is able to trace
a marked physiological and psychological agreement. So much
do they resemble one another that they might readily be taken
for members of the same family. Twelve appear to have very
large tongues which in most cases interfered with speech." This
was the first indication that he had identified a specific
group of patients with unique physical characteristics.
pursued the project for the identification of skull shapes
in several ways. In 1862 and in 1865 he photographed a large
number of patients. Over 200 of his black and white negatives
have survived. in his definitive publication in what he described
the ethnic classification of idiots in 1866 he pointed to
the physical features of patients whom he described as Caucasian,
Ethiopian, Malayan, American Indian and Mongolian. It was
the last of these categories which encompassed the first
description of what is now knows as Down's syndrome.
wrote: "It is to this division I wish, in this paper to draw
special attention. The very large number of congenital idiots
are typical mongols. So marked is this that when placed side
by side it is difficult to believe that the specimens compared
are not children of the same parents. The number of idiots
who have arranged themselves around the Mongolian type is
so great and they present such a close resemblance to one
another in mental power that I shall describe an idiot member
of this racial division selected from the large number who
have fallen under my observation.
face is flat and broad and destitute of prominence. The cheeks
are roundish and extended laterally. The eyes are obliquely
placed and the internal canthi more than normally distanced
from one anotheir. The palpebral fissure is very narrow The
tongue is long, thick and much roughened. The nose is small.
The skin has a slight dirty yellowish texture and is deficient
in elasticity, giving the impression of being too large for
the body." He went on to observe that the co-ordination was
poor, the circulation is feeble and there is a tendency to
delay in development during the winter, suggesting that in
some of his patients there was concurrent thyroid deficiency.
noted that this group of patients responded very well to
training, doing better than would be expected. Their life
expectancy however was below average and there was a tendency
for the development of tuberculosis.
1876 he specifically identified the fold of skin at the inner
comer of the eyes which he described as epicanthic folds
and he also noted that the ear was usually placed further
back in relation to the head and face than in normal children.
It was not until 1959 that Lejeune and colleagues discovered
the extra chromosome 21 which was the underlying abnormality in
Down's syndrome. Very little new was added to the clinical description
of the condition apart from the description of single transverse
crease in the palm noted by John Langdon Down's son Reginald in
1908 and the characteristic grey spots on the iris of the eye
noted by Brushfield in 1924.
This article was written in 2002.
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