Bardet-Biedl syndrome

Last revised by Andrew Murphy on 18 Aug 2019

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 4
  • obesity: often truncal
  • hypogonadism: in males

History and etymology

It is named after:

  • Arthur Biedl (1869-1933): Romano-Hungarian pathologist 
  • Georges Bardet: French physician

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