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Bardet-Biedl syndrome (BBS) is an autosomal recessive pleiotropic ciliopathy caused by biallelic (likely) pathogenetic variants in genes associated with BBS. Truncal obesity is present in around 89% of patients and usually begins in the first year of life. Other main characteristics include retinal dystrophy, genital and renal anomalies, polydactyly and learning disabilities.

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Bardet-Biedl Syndrome

  • 章节

  • 发表日期：

    2025年

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  • Wenneke van Weelden,
  • Elizabeth Forsythe,
  • Mieke van Haelst

摘要

Bardet-Biedl syndrome (BBS) is an autosomal recessive pleiotropic ciliopathy caused by biallelic (likely) pathogenetic variants in genes associated with BBS. Truncal obesity is present in around 89% of patients and usually begins in the first year of life. Other main characteristics include retinal dystrophy, genital and renal anomalies, polydactyly and learning disabilities.