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On the Nature of Syndrome Delineation

Published online by Cambridge University Press:  01 August 2014

M. Michael Cohen Jr.
M. Michael Cohen Jr.*
Affiliation:
Department of Oral and Maxillofacial Surgery, School of Dentistry, and Department of Pediatrics, School of Medicine, University of Washington, Seattle, Washington, USA
*
Department of Oral and Maxillofacial Surgery, SB-24, University of Washington, Seattle, WA 98195, USA

Abstract

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Perhaps half of all patients with multiple abnormalities have known, recognized syndromes. The other half represent unknown entities that need to be further delineated. The significance of syndrome delineation cannot be overestimated. As an unknown syndrome becomes delineated, its phenotypic spectrum, its natural history, and its risk of recurrence become known, allowing for better patient care and family counseling.

The process of syndrome delineation is discussed in terms of unknown genesis syndromes of the provisionally-unique and recurrent-pattern types, and known-genesis syndromes of the pedigree, chromosomal biochemical-defect, and environmentally-induced types. Several special syndrome categories are defined, including the chance syndrome, variant additive syndrome, association syndrome, exceptional chromosomal syndrome, and exceptional monogenic syndrome. Finally, a population definition of a syndrome is developed.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 26 , Issue 2 , April 1977 , pp. 103 - 119
Copyright
Copyright © The International Society for Twin Studies 1977

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