Bardet-Biedl syndrome type 8

Bardet-Biedl syndrome type 8

An autosomal recessive form of Bardet-Biedl syndrome (OMIM:209900), a genetically heterogeneous disorder characterised by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. It is variably accompanied by diabetes mellitus, hypertension and congenital heart disease. BBS is more common in mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, due a founder effect stemming from the high rate of consanguinity in these populations.

Molecular pathology
Defects of TTC8, which encodes a protein that is part of the BBSome complex and required for ciliogenesis, cause Bardet-Biedl syndrome type 8.