{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T12:59:00Z","timestamp":1791896340412,"version":"4.3.4"},"reference-count":85,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,5,23]],"date-time":"2026-05-23T00:00:00Z","timestamp":1779494400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,5,23]],"date-time":"2026-05-23T00:00:00Z","timestamp":1779494400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Considerable advances have been made in our understanding of Bardet\u2013Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence\u2010based, and consensus\u2010driven process, a multidisciplinary group of international experts and patient\u2010led organizations developed an updated diagnostic algorithm. This algorithm provides practical, updated guidance for clinicians, including a pathway for accurately incorporating genetic findings into the diagnostic process. We recommend that a clinical diagnosis requires either 4 major criteria or 3 major and 2 minor criteria. Revised major criteria are retinal dystrophy, obesity (or overweight in individuals &lt;\u20092\u2009years old), congenital anomalies of the kidney and urinary tract or chronic kidney disease, hypogonadism\/genital anomalies, neurodevelopmental\/neurocognitive manifestations, and postaxial polydactyly. The diagnosis can also be established with a positive genetic testing result in patients exhibiting \u2265\u20091 major criterion, provided that genetic findings should be interpreted in the context of the patient's clinical presentation, age, family history, and overlap with related ciliopathies. These consensus criteria offer a simple algorithm incorporating updated definitions for major and minor criteria and genetic testing to support a timely and accurate diagnosis of patients with BBS, inform genetic counseling, and potentially facilitate earlier access to treatment.<\/jats:p>\n                  <jats:p>\n                    <jats:bold>Trial Registration:<\/jats:bold>\n                    CRIBBS Registry;\n                    <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/clinicaltrials.gov\">ClinicalTrials.gov<\/jats:ext-link>\n                    : NCT02329210\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70199","type":"journal-article","created":{"date-parts":[[2026,5,23]],"date-time":"2026-05-23T07:07:12Z","timestamp":1779520032000},"page":"2181-2198","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Streamlining Diagnosis of Bardet\u2013Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5270-9981","authenticated-orcid":false,"given":"Jeremy J.","family":"Pomeroy","sequence":"first","affiliation":[{"name":"Marshfield Clinic Research Institute  Marshfield Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-7985-8882","authenticated-orcid":false,"given":"Jesse","family":"Richards","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine University of Oklahoma School of Community Medicine  Tulsa Oklahoma USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brooke R.","family":"Sweeney","sequence":"additional","affiliation":[{"name":"Children's Mercy Kansas City, Center for Children's Healthy Lifestyles &amp; Nutrition  Kansas City Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8004-4924","authenticated-orcid":false,"given":"Seema","family":"Kumar","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatric and Adolescent Medicine Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katie E.","family":"Queen","sequence":"additional","affiliation":[{"name":"Our Lady of the Lake Children's Health Weight and Nutrition Center  Baton Rouge Louisiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua","family":"Zaritsky","sequence":"additional","affiliation":[{"name":"Department of Nephrology Phoenix Children's Hospital  Phoenix Arizona USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-5541-0085","authenticated-orcid":false,"given":"Carl H.","family":"Cramer","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology and Hypertension, Department of Pediatric and Adolescent Medicine Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elias I.","family":"Traboulsi","sequence":"additional","affiliation":[{"name":"Cole Eye Institute, Cleveland Clinic  Cleveland Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8806-1438","authenticated-orcid":false,"given":"Brittni A.","family":"Scruggs","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Department of Pediatrics Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2412-8397","authenticated-orcid":false,"given":"Erica E.","family":"Davis","sequence":"additional","affiliation":[{"name":"Stanley Manne Children's Research Institute, Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA"},{"name":"Department of Pediatrics, Cell and Developmental Biology Fienberg School of Medicine, Northwestern University  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-0526-1875","authenticated-orcid":false,"given":"Ekaterina","family":"Keifer","sequence":"additional","affiliation":[{"name":"Marshfield Clinic Research Institute  Marshfield Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"McGibbon","sequence":"additional","affiliation":[{"name":"Wolfson Neurodisability Service, Great Ormand Street Hospital NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy","family":"Ogden","sequence":"additional","affiliation":[{"name":"Bardet Biedl Syndrome Foundation  Unionville Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bendert","family":"De Graaf","sequence":"additional","affiliation":[{"name":"Bardet\u2010Biedl Stichting  Kampen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tonia","family":"Hymers","sequence":"additional","affiliation":[{"name":"Bardet\u2010Biedl Syndrome UK  Essex UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Forsythe","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Guys and St. Thomas' Hospitals  London UK"},{"name":"National Bardet\u2010Biedl Syndrome Clinics, Great Ormond Street Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9164-9782","authenticated-orcid":false,"given":"Philip","family":"Beales","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine Programme, University College London Great Ormond Street Institute of Child Health  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,23]]},"reference":[{"key":"e_1_2_17_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.070755"},{"key":"e_1_2_17_3_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810701537424"},{"key":"e_1_2_17_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature02030"},{"key":"e_1_2_17_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33773"},{"key":"e_1_2_17_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.12.e76"},{"key":"e_1_2_17_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/obr.13915"},{"key":"e_1_2_17_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.36.6.437"},{"key":"e_1_2_17_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2011.01688.x"},{"key":"e_1_2_17_10_1","doi-asserted-by":"publisher","DOI":"10.6061\/clinics\/2012(02)09"},{"key":"e_1_2_17_11_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a028191"},{"key":"e_1_2_17_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36245"},{"key":"e_1_2_17_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rare.2025.100092"},{"key":"e_1_2_17_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010024\u201003400\u2010w"},{"key":"e_1_2_17_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/423903"},{"key":"e_1_2_17_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddac227"},{"key":"e_1_2_17_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039\u2010018\u20100363\u20107"},{"key":"e_1_2_17_18_1","doi-asserted-by":"publisher","DOI":"10.3233\/pge\u201014085"},{"key":"e_1_2_17_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13878"},{"key":"e_1_2_17_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21480"},{"key":"e_1_2_17_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010024\u201001634\u20107"},{"key":"e_1_2_17_22_1","doi-asserted-by":"publisher","DOI":"10.22088\/cjim.13.4.805"},{"key":"e_1_2_17_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13256\u2010022\u201003396\u20106"},{"key":"e_1_2_17_24_1","doi-asserted-by":"publisher","DOI":"10.1001\/archophthalmol.2012.2434"},{"key":"e_1_2_17_25_1","volume-title":"GeneReviews","author":"Forsyth R.","year":"1993"},{"key":"e_1_2_17_26_1","volume-title":"Bardet\u2010Biedl Syndrome Overview","author":"Forsyth R. 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