Bardet-Biedl syndrome (BBS) is a rare genetic disorder with an autosomal recessive inheritance pattern. Its clinical manifestations are heterogeneous, with the main ones being cone-rod dystrophy, polydactyly, obesity, genital anomalies, kidney defects (e.g., cystic disease or urinary tract malformations), and learning disabilities. Many patients appear to be phenotypically healthy at birth but develop symptoms during their first decade of life or even later. Nevertheless, renal anomalies and polydactyly are commonly observed in this syndrome before birth. If these findings are present, suspected BBS can be confirmed by genetic testing.
Pathogenic variants associated with this syndrome affect genes that encode primary cilia proteins, which play a major role during embryonic development. It shows high phenotypic variability and genetic heterogeneity.
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