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BBS is an autosomal recessive disorder with &gt;20 implicated genes. The genotype\u2013phenotype relationship in BBS is not clear, and there may be additional modifying factors. The underlying mechanism is dysfunction of primary cilia. In BBS, receptor trafficking in and out of the cilia is compromised, affecting multiple organ systems. Along with early\u2010onset obesity, hyperphagia is a prominent symptom and contributes significantly to clinical morbidity and caregiver burden. While there is no cure for BBS, setmelanotide is a new pharmacotherapy approved for treatment of obesity in BBS. The differential diagnosis for BBS includes other ciliopathies, such as Alstrom syndrome, and other genetic obesity syndromes, such as Prader\u2010Willi syndrome. Careful clinical history and genetic testing can help determine the diagnosis and a multidisciplinary team is necessary to guide clinical management.<\/jats:p>","DOI":"10.1111\/dom.15494","type":"journal-article","created":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T21:23:10Z","timestamp":1708550590000},"page":"25-33","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":39,"title":["Bardet\u2010Biedl syndrome: A clinical overview focusing on diagnosis, outcomes and best\u2010practice management"],"prefix":"10.1111","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1628-3677","authenticated-orcid":false,"given":"Ashley","family":"Shoemaker","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology Vanderbilt University Medical Center  Nashville Tennessee 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