Syndromale Adipositas

Zusammenfassung

Es sind bisher mehr als 50 verschiedene genetische Syndrome beschrieben, die mit einer Adipositas assoziiert sein können. Meist bestehen auch weitere spezifische klinische Merkmale wie eine mentale Retardierung, Dysmorphien, Kleinwuchs, Hypogonadismus oder organspezifische Entwicklungsstörungen. Die Adipositas tritt oft stammbetont auf und stellt meistens kein isoliertes Symptom dar. Bei einigen der Adipositas-Syndrome besteht ein charakteristisches Präsentationsalter sowie ein spezifischer Phänotyp, wobei die assoziierten klinischen Symptome jedoch bezüglich Häufigkeit oder Ausprägungsgrad erheblich variieren können. Eine Übersicht über die häufigsten Adipositas-assoziierten Syndrome sowie differentialdiagnostische Überlegungen sind nachfolgend dargestellt.

Summary

To date, more than 50 genetically based syndromes are described to be associated with obesity. In most cases, syndromal obesity is accompanied by additional clinical features such as mental retardation, dysmorphias, short stature, hypogonadism, or developmental dysfunctions of distinct organs. In the majority of these diseases, obesity does not represent an isolated symptom and occurs as trunkal obesity. A characteristic age of incidence and a specific phenotype is typical for certain obesity-associated syndromes; however, there is a great variation of associated clinical symptoms with respect to frequency and phenotype. Hereafter, an overview of the most common syndromes associated with obesity as well as diagnostic aspects are presented.

Schlüsselwörter

Syndromale Adipositas - Prader-(Labhart)-Willi-Syndrom - Bardet-Biedl-Syndrom - Alström- Syndrom - Cohen-Syndrom - Carpenter-Syndrom - Fragiles-X-Syndrom - Albright’s hereditäre Osteodystrophie und Rubinstein-TaybiSyndrom

Keywords

Syndromal obesity - Prader-(Labhart)-Willi syndrome - Bardet-Biedl syndrome - Alström syndrome - Cohen syndrome - Carpenter syndrome - fragile X syndrome - Albright’s hereditary osteodystrophia - Rubinstein-Taybi syndrome

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