Bardet- Biedl- syndrome

Last updated on: 12.03.2021

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Occurrence/EpidemiologyThis section has been translated automatically.

The incidence is 1: 160,000 in Northern Europe and higher in some Arab populations at 1: 13,500 (Forsythe 2013).

EtiopathogenesisThis section has been translated automatically.

There is an autosomal recessive inheritance with 16 genes identified to date (Forsythe 2013).

Clinical featuresThis section has been translated automatically.

The syndrome is characterized by the following symptoms:

  • mental retardation
  • retinopathy (Beetz 2013)
  • AdipDositas
  • Polydactyly
  • malformations of the kidneys
  • Hypogenitalism in male patients
  • (Risler 2008)

DiagnosticsThis section has been translated automatically.

The diagnosis is usually based on the above-mentioned clinical abnormalities and on genetic testing (Forsythe 2013).

TherapyThis section has been translated automatically.

Treatment consists of regular multidisciplinary monitoring (Forsythe 2013).

LiteratureThis section has been translated automatically.

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Last updated on: 12.03.2021