Bardet-Biedl syndrome type 13

Bardet-Biedl syndrome type 13

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 MKS1, which encodes a protein that localises to the basal body and is required for forming the primary cilia in ciliated epithelial cells, cause Bardet-Biedl syndrome type 13.