Bardet- Biedl- syndrome

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

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

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)

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

Treatment consists of regular multidisciplinary monitoring (Forsythe 2013).

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