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SYNDROME

Semiology

Dysmorphology

Down Syndrome (DS)

Related Topics
In Medicine, SEMIOLOGY is the SCIENCE and art of detection and interpretation of SIGNS.
In Clinical Medicine most SIGNS are visual expressions of MORPHOGENESIS and its alterations or DYSMORPHOGENESIS. SYNDROME refers to a cluster of typical recurrent patterns of concurrent signs. Strictly speaking, SYN implies concurrent and DROMOS implies running, in this case, "SIGNS RUNNING TOGETHER". This brings us SIGN vs SIGNAL. Note that we mention SIGN not SIGNAL because it ir very rare that a SIGN alone is specific enough to be a SIGNAL of a SYNDROME, in other words, SIGNS are rarely pathognomonic. A question arises concerning SYMPTOMS, which generally are reported by the individual experiencing them and may be more or less objective, those that are can also be considered as SIGNS. In essence, therefore, SIGNS must be objective while SIGNALS are not, they are hypothetical. SIGNALS represent interpretation of SIGNS, and reflect diverse degrees of experience and intelligence of those who interpret the SIGNS.

SYNDROMES represent consistently observed combinations of SIGNS, for example a face. Fases that "talk to us" are called, in Medicine, FACIES. Neither SYNDROMES nor FACIES are synonyms of DIAGNOSIS. Nonetheless, SYNDROMES can be characteristic of particular mechanisms or PATHOGENESIS, causes or ETIOLOGY or at times of a DIAGNOSIS. This inconsistency is due to the existance of "copies", in Medicine called PHENOCOPIES. In other words, a SYNDROME can result from diverse causes, mechanisms and represent diverse DIAGNOSES. What is then a DIAGNOSIS? - it is the synthesis of all of these elements plus the NATURAL HISTORY before and after the DIAGNOSIS. The NATURAL HISTORY is a higher order of fact than the DIAGNOSIS meaning that DIAGNOSIS can not be incompatible and with the "de facto" PROGNOSIS (NATURAL HISTORY). In such contradictions the DIAGNOSIS is false. 
A sketch by an artistically talented medical student
Etching by Dr. J. Warkany - "A child of Non-Disjunction"

If the SIGNS, SIGNALS, PATHOGENESIS and ETIOLOGY sustain the DIAGNOSIS of childhood Down Syndrome and this child becomes a higher order physicist, the  NATURAL HISTORY contradicts the DIAGNOSIS which most likely is erroneous. 

Down Syndrome represents a prototype of a Dysmorphic Syndrome for several reasons; the face is the FACIES (a face that talks to you); the Dysmorphic Signs of the face are also seen in many other syndromes; Down Syndrome signs change with development and aging (underscoring that Dysmorphic Signs may be temporary); the Pathogenesis illustrates impacts of the Etiology on multiple developmental systems; the Etiology is also manifested as trisomy 21 or other imbalances of the long arm of chromosome 21 resulting in partial trisomies; the Etiology of the Chromosomal Imbalance is often associated with maternal aging, a risk factor that remains unknown. 


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