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SYNDROME
refers to a cluster of typical, thus recognizable signals with predictive value (DIAGNOSIS
or PROGNOSIS). The "nouveau riche" syndrome, for
example, conveys a bevy of ideas and serves as
a communication "short-cut". In medicine, "syndrome"
implies a "typical array of SYMPTOMs and SIGNs" and does quicken
the clarification of causes (ETIOLOGY)
and their
mechanism of action (PATHOGENESIS). Early
recognition can help ameliorate the natural course of events
(natural history). Whenever causes can be removed or
avoided, total prevention of disease or maldevelopment
is feasible (primary prevention). Anticipatory and early THERAPY
is another strategy to impede or at least decrease the
expression of disease (secondary prevention). Notably, TERATOGENs (toxins that alter embryonic and
subsequent development) can be avoided. Such PROPHYLACTIC interventions are
promoted by public HEALTH policies. Early medical interventions fell in the
realm of preventive and clinical medicine. The art of collecting clinical
history of symptoms is referred to in medical parlance as ANAMNESIS.
The art of noting signs is referred to as SEMIOLOGY. Linguists who
concentrate on the study of meanings are specialists in SEMIOTICS.
Clinicians who study patterns of symptoms and signs are
SEMIOLOGISTs and SYNDROMologists.
Medical syndromes have been recognized since recorded history. Often human
DWARFS
and those with other forms of BIRTH DEFECTS
were considered by the ancients to be harbingers or
heralds of the Gods. Given that a specific type of "Dwarfism" syndrome
is recognized early, affected persons can benefit from early interventions
reflecting experience gathered from treatments of similar
instances.
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"Dwarfism" Syndrome
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Regarding causes of syndromes, such as alcohol for instance,
was noted since antiquity. Alcohol is a brain toxin and also
a developmental poison (TERATOGEN)
to the unborn and to growing children.
However, only recently were clinicians able to define the characteristics that
differentiate the "Fetal
Alcohol Syndrome"
from
other developmental disorders.
Astute clinicians described many syndromes centuries
before scientific investigations identified true (ETIO) causes (ETIOlogy). For instance, Malaria
(bad air) was known by the Romans. Although they had no idea
of its etiology (plasmodium) nor pathogenesis (mosquito
bites, lysis of red blood cells and so on). Nonetheless, Romans knew that the disorder had to do with
proximity to marshes and that during summer people developed
intermittent fever and
signs of serious chronic infection or "miasmata"
(Latin for infection signs). The "prevention" for Malaria was to avoid
marshy areas during summers and seek cooler and dryer mountainous regions.
Much of current "syndromology" is oriented toward the
study of recognizable patterns of congenital
malformations and developmental disorders such as
mental subnormality. This sort of "syndromology"
is sometimes referred to as "dysmorphology" to emphasize
that structural malformations often are seen in
combination with distortions of "morphogenesis" or
the shape (proportions) of the face and of other
body parts. Akin to the general human ability to
recognize each other by unique facial features, most lay people can recognize the face of individuals with
"Down Syndrome" ("Trisomy 21
Syndrome") without any knowledge of the
fact that such persons inherited an
extra chromosome 21.
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Classic
early treatise on "Mongolism" Syndrome |
Because the etiology and pathogenesis of most birth
defects remain unknown, "syndromology" provides an important starting point in the quest to map the human
genome and to identify genes and environmental factors that impact human development
and health (stability or HOMEOSTASIS).
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Stigmatic
Down Syndrome face (facies)
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Child
of Non-disjunction Etching by
Josef Warkany
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The top of
this page shows an illustration of Esculapius, the Greek and Roman personification
of MEDICINE, and his three daughters known as the "three
graces" (Meditrina, Hygieia and Panacea or
Health).
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