Abstract
Bardet-Biedl syndrome (BBS) is a rare multisystem genetic disease, with high phenotypic
and genetic heterogeneity. Rod-cone dystrophy, obesity, polydactyly, hypogonadism,
cognitive impairment and renal abnormalities have been established as primary features.
There are 17 BBS genes (BBS1-BBS17) described to date, which explain 70–80% of the
patients clinically diagnosed, therefore more BBS genes remain to be identified. BBS
belongs to a group of diseases known as ciliopathies. In general, ciliopathies and
BBS in particular share a partial overlapping phenotype that makes them complicated
to diagnose. We present an up-to-date review including clinical, epidemiologic and
genetic aspects of the syndrome.
Keywords
Bardet-Biedl syndrome - ciliopathy - BBS genes - BBS proteins
