Bardet-Biedl syndrome

Last revised by Yuranga Weerakkody on 12 Dec 2022

Bardet-Biedl syndrome (BBS), previously known as the Laurence-Moon-Bardet-Biedl syndrome (LMBBS), is a rare autosomal recessive hereditary condition.

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

Some publications classify this as a from of congenital ciliopathy.

It is thought to have an autosomal recessive inheritance

It is currently named after:

  • Arthur Biedl (1869-1933): Romano-Hungarian pathologist 

  • Georges Bardet: French physician

The original syndrome as the Laurence-Moon-Biedl syndrome was first described in 1866 by Laurence and Moon, following observation of polydactylism, obesity and poor eyesight in a family of 8 children. In 1922 Arthur Biedl noted the familial tendency of this syndrome, reporting it in several members of the same family.

Solis-Cohen and Weiss proposed the term "Laurence-Moon-Biedl syndrome" in 1924 when they summarized the reported cases. Since George Bardet added polydactylism as one of the criteria for diagnosis some authors prefer the term Laurence-Moon-Bardet syndrome.

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