Bardet-Biedl syndrome [29 genes]

Bardet-Biedl syndrome (BBS) is a rare genetic disorder with an autosomal recessive inheritance pattern.
Its clinical manifestations are heterogeneous. The main ones include:

• Cone-rod dystrophy
• Polydactyly
• Obesity
• Genital anomalies
• Kidney defects: cystic kidney disease, urinary tract malformation
• Learning difficulties

Many patients are phenotypically healthy at birth, developing symptoms during the first decade of life or even later. However, renal anomalies and polydactyly are common findings of this syndrome before birth. Given these findings, suspicion of BBS can be addressed with a genetic study. The pathogenic variants associated with this syndrome affect genes that encode proteins of the primary cilia, which plays an important role during embryological development. There is high phenotypic variability and genetic heterogeneity.

Incidence: 1/100,000

Identifying genetic variants causing BBS syndrome allows for a precise molecular diagnosis that provides the necessary information to perform genetic counseling, direct patient management, and offers predictive value to carrier patients.

This panel is indicated when there is suspicion of Bardet-Biedl syndrome (BBS) that includes the following clinical characteristics:

• Cone-rod dystrophy
• Polydactyly
• Obesity
• Genital abnormalities
• Kidney defects (cystic kidney disease, urinary tract malformation)
• Learning difficulty