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On the Nature of Syndrome Delineation

Published online by Cambridge University Press:  27 January 2025

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.

Riassunto

RIASSUNTO

Forse la metà di tutti i pazienti con anomalie multiple presenta sindromi note e riconosciute, mentre l'altra metà presenta entità sconosciute che richiedono di essere ulteriormente delineate. L'importanza della delineazione delle sindromi è notevolissima. Con la delineazione di una sindrome, divengono noti il suo spettro fenotipico, la sua storia naturale, ed il suo rischio in termini di frequenza, il che consente di migliorare il tratlamento e la consulenza eugenica.

Il processo della delineazione delle sindromi viene discusso riferendosi alle sindromi con genesi sconosciuta dei tipi ‘provvisoriamente unico’ e ‘ricorrente’, ed alle sindromi con genesi nota dei tipi ‘genealogico’, ‘cromosomico’, ‘da difetto biochimico’, ‘di origine ambientale’. Vengono definite diverse categorie di sindromi speciali e viene infine elaborata una definizione popolazionistica di sindrome.

Résumé

RÉSUMÉ

Peut-être la moitié des patients atteints d'anomalies multiples présente des syndromes reconnus, alors que l'autre moitié présente des entités inconnues pour lesquelles une delineation ultérieure est nécessaire. La délinéation des syndromes est très importante. Une fois un syndrome délinéé, son spectrum phénotypique, son histoire naturelle et son risque d'affection deviennent connus, ce qui améliore le traitement des patients et la consultation familiale.

Le processus de délinéation des syndromes est discuté par rapport aux syndromes à genèse inconnue (types ‘provisoirement unique’ et ‘récurrent’) et à genèse connue (types ‘généalogique’, ‘chromosomial’, ‘à défaut biochimique’, ‘d'origine environnementale’). Différentes catégories spéciales de syndromes sont définies et une définition de syndrome par rapport à la population est finalement élaborée.

Zusammenfassung

ZUSAMMENFASSUNG

Vielleicht nur die Hälfte aller Patienten mit multiplen Anomalien leiden an bekannten und bereits anerkannten Syndromen. Die andere Hälfte leidet an noch unbekannten Krankheitsbildern, die noch genauer umrissen werden müssen. Die genaue Abgrenzung der Syndrome ist von grösster Wichtigkeit, denn nur dadurch kann man ihr phänotypisches Spektrum, ihre Naturgeschichte sowie das Risiko erfassen, das ihr mehr oder minder häufiges Vorkommen in sich birgt, um Behandlung und eugenische Beratung dementsprechend zu verbessern. Es wird daher erörtert, wie sich die Syndrome abgrenzen lassen. Syndrome unbekannten Ursprungs kann man in «vorläufig» und «wiederholt auftretende» einteilen. Bei Syndromen bekannten Ursprungs lassen sich hingegen «genealogische», «chromosomale» sowie «durch biologische Defekte bedingte» und «umweltsbedingte» Syndrome unterscheiden. Es werden noch verschiedene Kategorien von Sondersyndromen beschrieben und schliesslich eine auf die Bevölkerung bezogene Definition des Begriffs Syndrom ausgearbeitet.

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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