Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Williams-Beuren-Syndrome

Das Williams-Beuren-Syndrome ist eine genetisch Multisystemerkrankung, die durch eine Mikrodeletion von etwa 1,5 bis 1,8 Mb auf dem Chromosom 7q11.23 hervorgerufen wird. Zum klinischen Bild gehören Dysmorphien des Gesichtes und Störungen in verschiedenen inneren Organen. Die Nieren ist vor allem mit Nephrocalcinose und Urolithiasis betroffen.

Epidemiologie

Die Inzidenz der Erkrankung wird auf 1:10.000 Lebendgeburten geschätzt.[1]

Symptome

Dysmorphie
Dysmorphien betreffen vor allem das Gesicht und werden als Feengesicht beschrieben: eingefallene Nasenwurzel, Epikanthus-Falte, antevertierte Nasenlöcher und prominente Lippen.
Nephrocalcinose
Nephrocalcinose und Urolithiasis sind die typische renale Manifestation eines sonst von Dysmorphien dominierten Williams-Beuren-Syndrom.

Gliederung

Nephrocalcinose
Bartter-Syndrom
Hereditäre Rachitis
Hyperoxalurie
Hypomagnesiämie mit Hypercalciurie und Nephrocalcinose
Hypomagnesiämie mit Hypercalciurie, Nephrocalcinose und Augenbeteiligung
Infantile Hypercalciämie
Lowe-Syndrom
Morbus Dent
Renale tubuläre Azidose
Williams-Beuren-Syndrome
ELN

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