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Birth Defects
  Syndrome Symptom Sign

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.

"Dwarfism" Syndrome

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.

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).

Stigmatic Down Syndrome face (facies)

Child of Non-disjunction
Etching by
Josef Warkany

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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