A rare case of Bardet-Biedl syndrome in a 10 years old child with clinical and genetic correlation

Zeena Salwa; M. Sajedur Rahman; Tanha Tanzim

doi:10.18203/2349-3291.ijcp20260826

Authors

Zeena Salwa Department of Paediatrics and Child Development Centre, Square Hospitals Limited, Dhaka, Bangladesh
M. Sajedur Rahman Department of Ophthalmology, Square Hospitals Limited, Dhaka, Bangladesh
Tanha Tanzim Department of Child Development Centre, Square Hospitals Limited, Dhaka, Bangladesh

DOI:

https://doi.org/10.18203/2349-3291.ijcp20260826

Keywords:

Bardet–Biedl syndrome (BBS), Rod–cone dystrophy, Polydactyly, Obesity, Ciliopathy, Case report

Abstract

Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by multisystem involvement, including rod–cone dystrophy, polydactyly, obesity, genital anomalies, renal dysfunction, and neurodevelopmental delay. We report a 10-year-old boy who presented with night blindness, progressive visual impairment, obesity, polydactyly, acanthosis nigricans, and insulin resistance. Ophthalmological evaluation revealed reduced visual acuity with bilateral optic disc pallor. The constellation of clinical features fulfilled the diagnostic criteria for Bardet–Biedl syndrome and was subsequently confirmed by genetic testing. Early clinical recognition of BBS is crucial to ensure timely multidisciplinary management and appropriate genetic counseling. This case underscores the importance of considering syndromic etiologies in children presenting with visual impairment, obesity, and polydactyly to facilitate prompt diagnosis and intervention.

Metrics

Metrics Loading ...

References

Forsythe E, Beales PL. Bardet–Biedl syndrome. Eur J Hum Genet. 2013;21(1):8-13. DOI: https://doi.org/10.1038/ejhg.2012.115

Forsyth RL, Aygun MG. Bardet-Biedl Syndrome Overview. Gene Reviews. 2023. Available at: https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome/#references. Accessed on 18 January 2026.

Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet–Biedl syndrome: results of a population survey. J Med Genet. 1999;36(6):437-46. DOI: https://doi.org/10.1136/jmg.36.6.437

Shoemark A, Dixon M, Beales PL, Hogg CL. Bardet-Biedl syndrome: motile ciliary phenotype. Chest. 2015;14793):764-70. DOI: https://doi.org/10.1378/chest.13-2913

Fliegauf M, Benzing T, Omran H. When cilia go bad: cilia defects and ciliopathies. Nat Rev Mol Cell Biol. 2007;8(11):880-93. DOI: https://doi.org/10.1038/nrm2278

Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peränen J, Merdes A, et al. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell. 2007;129(6):1201-13. DOI: https://doi.org/10.1016/j.cell.2007.03.053

Billingsley GD, Kida K, Leroy BP, van Allen MI, Hamilton BJ, Balci S, et al. Mutations in BBS2 cause Bardet–Biedl syndrome with ocular phenotypes. Am J Hum Genet. 2000;67(5):1081.

Shoemaker A. Bardet-Biedl syndrome: A clinical overview focusing on diagnosis, outcomes and best-practice management. Diabetes Obes Metab. 2024. DOI: https://doi.org/10.1111/dom.15494

Rosado A, Rodriguez E, Izquierdo N. Ophthalmologic manifestations in Bardet–Biedl syndrome: emerging therapeutic approaches. Medicina (Kaunas). 2025;61(7):1135. DOI: https://doi.org/10.3390/medicina61071135

Fulton AB, Hansen RM, Glynn RJ. Natural course of visual functions in the Bardet–Biedl syndrome. Arch Ophthalmol. 1993;111(11):1500-6. DOI: https://doi.org/10.1001/archopht.1993.01090110066026

Ayers KL, Glicksberg BS, Garfield AS, Subramanian S, Cherney G, Parikh H, et al. Melanocortin 4 receptor pathway dysfunction in obesity: patient stratification aimed at MC4R agonist treatment. J Clin Endocrinol Metab. 2018;103(7):2601-12. DOI: https://doi.org/10.1210/jc.2018-00258

Guo DF, Cui H, Zhang Q, Seo S, Westlake CJ, Rahmouni K, et al. The BBSome controls energy homeostasis by mediating the transport of the leptin receptor to the plasma membrane. PLoS Genet. 2016;12(2):e1005890. DOI: https://doi.org/10.1371/journal.pgen.1005890

Doche ME, Bochukova EG, Su HW, Pearce LR, Fedotovskaya O, Ling A, et al. Human SH2B1 mutations are associated with maladaptive behaviors and obesity. J Clin Invest. 2012;122(12):4732-6. DOI: https://doi.org/10.1172/JCI62696

Ramirez L, Marrero LL, Carlo S, Cornier AS. Orthopaedic manifestations of Bardet–Biedl syndrome. J Pediatr Orthop. 2004;24(1):92-6. DOI: https://doi.org/10.1097/01241398-200401000-00018

Forsythe E, Beales PL, Ross AJ, Waters MA. Gene Reviews. Seattle (WA): University of Washington; 2003-2025. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1363/. Accessed on 18 January 2026.

Shikwambana MM, Fourie JV. Supporting a Tsonga learner living with Bardet–Biedl syndrome, a rare complex disability. Afr J Disabil. 2023;12:1181. DOI: https://doi.org/10.4102/ajod.v12i0.1181

Panny A, Glurich I, Haws RM, Acharya A. Oral and craniofacial anomalies of Bardet–Biedl syndrome: dental management in the context of a rare disease. J Dent Res. 2017;96(12):1361-9. DOI: https://doi.org/10.1177/0022034517716913

Yadav DK, Beniwal MK, Jain A. Bardet–Biedl syndrome: a rare cause of cardiomyopathy. Indian Pediatr. 2013;50(6):599-601.

Elbedour K, Zucker N, Zalzstein E, Barki Y, Carmi R. Cardiac abnormalities in the Bardet–Biedl syndrome: echocardiographic studies of 22 patients. Am J Med Genet. 1994;52(2):164-9. DOI: https://doi.org/10.1002/ajmg.1320520208

Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, et al. The Cardinal Manifestations of Bardet-Biedl Syndrome, a Form of Laurence-Moon-Biedl Syndrome. N Eng J Med. 1989;321(15):1002-9. DOI: https://doi.org/10.1056/NEJM198910123211503