AI Article Synopsis
- Bardet-Biedl syndrome is a rare genetic disorder caused by mutations in 26 different genes, leading to a range of clinical symptoms affecting multiple body systems.
- Key symptoms include vision loss, obesity, extra fingers or toes, cognitive challenges, reproductive issues, and kidney problems, with varying onset making diagnosis tricky.
- A multidisciplinary approach is essential for the monitoring and management of patients to effectively address the disorder’s complexities.
Article Abstract
Bardet - Biedl syndrome is a rare autosomal recessive multisystem non-motile ciliopathy. It has heterogeneous clinical manifestations. It is caused by mutations in 26 genes encoding BBSome proteins, chaperonines, and IFT complex. The main clinical features are: retinal cone-rod dystrophy, central obesity, postaxial polydactyly, cognitive impairment, hypogonadism and genitourinary anomalies, and kidney disease. The onset of clinical manifestations is variable which makes the diagnosis difficult in some patients. Because of the multiple system involvement, a multidisciplinary approach is necessary. The purpose of this review is to provide monitoring and management directions for a better approach to these patients.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9526427 | PMC |
| http://dx.doi.org/10.2147/JMDH.S274739 | DOI Listing |
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