Bardet-Biedl syndrome
Bardet-Biedl syndrome (BBS), previously known as the Laurence-Moon-Bardet-Biedl syndrome (LMBBS), is a rare autosomal recessive hereditary condition.
Clinical presentation
The clinical spectrum includes:
- retinal anomalies: similar to that of retinitis pigmentosa
- intellectual disability
- renal structural anomalies
- polydactyly: often post-axial
- obesity: often truncal
- hypogonadism: in males
History and etymology
It is named after:
- Arthur Biedl (1869-1933): Romano-Hungarian pathologist
- Georges Bardet: French physician
Siehe auch:
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Assoziationen und Differentialdiagnosen zu Bardet-Biedl syndrome: