Document Type

Article

Publication Date

10-2026

Identifier

DOI: 10.1002/ajmg.a.70199

Abstract

Considerable advances have been made in our understanding of Bardet-Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence-based, and consensus-driven process, a multidisciplinary group of international experts and patient-led 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 <  2 years 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 ≥ 1 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. Trial Registration: CRIBBS Registry; ClinicalTrials.gov: NCT02329210.

Journal Title

American journal of medical genetics. Part A

Volume

200

Issue

10

First Page

2181

Last Page

2198

MeSH Keywords

Humans; Bardet-Biedl Syndrome; Algorithms; Genetic Testing; Obesity; Phenotype

PubMed ID

42175648

Keywords

Bardet–Biedl syndrome; ciliopathies; diagnostic algorithm; diagnostic criteria; genetics; obesity

Comments

Grants and funding

This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Publisher's Link: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.70199

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