syndrome(redirected from Smith-Lemli-Opitz syndrome)
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a specific combination of disease symptoms determined by a single pathogenesis. A syndrome is not equivalent to a disease as a nosologic form, since the causes of a syndrome may be different. For example, meningeal syndrome, or irritation of the meninges, may be a result of the disruption of cerebral circulation (subarachnoid hemorrhage) and a menin-gococcic infection, and uremic syndrome is the final stage of many kidney diseases.
The basic symptoms of a syndrome are revealed upon the direct observation of an afflicted individual; these symptoms may include stomach pain, vomiting, muscular tension in the anterior abdominal wall, and Blumberg’s sign, which indicates peritoneal irritation with acute abdomen. Other syndromic symptoms are revealed through laboratory and instrumental methods; for example, changes in an electrocardiogram indicate Wolff-Parkinson-White syndrome, which is a specific form of abnormal myocardial function.
Modern medicine distinguishes approximately 1,500 syndromes. Many are named in honor of those who discovered them, for example, the Morgagni-Adams-Stokes syndrome, or paroxysmal oligemia of the brain caused by a heart block, whose symptoms include syncope and convulsions. Other syndromes are named in honor of those in whom they were first observed or in honor of literary figures. For example, Munchausen’s syndrome is a mental condition characterized by false complaints of bleeding and functional disorders.
The development of medical knowledge, including a more precise definition of the etiologic, or causal, factors of diseases determined by the environment or genetics, has resulted in the replacement of syndromic diagnosis and pathogenic treatment with a nosologic approach and specific causal treatment.
REFERENCESLazovskii, I. R. Klinicheskie simptomy i sindromy. Riga, 1971.
Leiber, B., and G. Olbrich. Klinicheskie sindromy. Moscow, 1974. (Translated from German.)
A. I. VOROB’EV and A. N. SMIRNOV