Author(s)

Naga Venkata Chakra Satyanarayana Amarthi, Terry Oroszi

Department of Pharmacology and Toxicology, Boonshoft School of Medicine, Wright State University, Dayton, Ohio, USA.

Hirschsprung’s disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells in the distal colon, leading to functional obstruction. Bardet-Biedl syndrome (BBS) is a rare ciliopathy associated with various clinical features, including HSCR. This review article aims to explore the underlying causes of HSCR in children with BBS, focusing on the genetic and developmental factors contributing to the pathogenesis of both conditions. We reviewed relevant literature, including peer-reviewed journal articles and case reports, to provide a comprehensive overview of the current understanding of the relationship between HSCR and BBS. Our findings highlight the complex interplay of genetic mutations, signaling pathways, and developmental processes involved in the pathogenesis of HSCR in BBS. Further research is needed to elucidate the precise mechanisms underlying this association and to develop targeted therapeutic strategies for children with HSCR and BBS.

Hirschsprung’s Disease, Bardet-Biedl Syndrome, Ciliopathy, Genetics, Developmental Disorder

Amarthi, N.V.C.S. and Oroszi, T. (2025) The Cause of Hirschsprung’s Disease in Bardet Biedl Syndrome in Children . Surgical Science, 16, 15-25. doi: 10.4236/ss.2025.161003.