# Bardet-Biedl syndrome in a 19-year-old male: the first case report from Palestine

## TL;DR

This case report describes a 19-year-old male from Palestine diagnosed with Bardet-Biedl syndrome, a rare genetic disorder with multiple health complications.

## Contribution

This is the first reported case of Bardet-Biedl syndrome from Palestine, highlighting diagnostic challenges and variable phenotypic expression.

## Key findings

- The patient exhibited obesity, type 2 diabetes, retinitis pigmentosa, and cryptorchidism with a family history of BBS.
- Genetic analysis identified a heterozygous missense variant in the FBN3 gene, though additional factors may influence the phenotype.
- Renal abnormalities such as kidney shrinkage and mild hydronephrosis were observed in the patient.

## Abstract

Bardet-Biedl syndrome (BBS) is a rare genetic disorder characterized by retinitis pigmentosa, polydactyly, type 2 diabetes mellitus, and obesity. This case report presents a 19-year-old male from Palestine with BBS, exhibiting delayed diagnosis and variable phenotypic expression. The patient had familial BBS history and presented with obesity, type 2 diabetes mellitus, retinitis pigmentosa, and cryptorchidism. Genetic analysis identified heterozygous missense variants in the FBN3 gene, yet additional genetic factors may contribute to the phenotype. Renal abnormalities included kidney shrinkage and mild hydronephrosis. Management of this patient involves a multidisciplinary approach with lifestyle modifications, surgical interventions, and supportive care. Early diagnosis, genetic counseling, and regular follow-up are crucial for improving outcomes in BBS. This report highlights diagnostic and therapeutic challenges and underscores the need for further research on this complex disorder.