Bardet-Biedl syndrome (BBS), previously known as the Laurence-Moon-Bardet-Biedl syndrome (LMBBS), is a rare autosomal recessive hereditary condition.
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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
Pathology
Some publications classify this as a from of congenital ciliopathy.
Genetics
It is thought to have an autosomal recessive inheritance
History and etymology
It is currently named after:
Arthur Biedl (1869-1933): Romano-Hungarian pathologist
Georges Bardet: French physician
Historical perspective
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.