5-Minute Pediatric Consult
Bardet-Biedl syndrome
MIM 209900; typically autosomal recessive; pathogenic variants in various genes; nonmotile ciliopathy; characterized by intellectual disability, obesity, retinal dystrophy, postaxial polydactyly, renal anomalies, hypogonadotropic hypogonadism, genitourinary (GU) malformations, and anosmia (looks superficially like Prader-Willi syndrome with polydactyly)
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Citation
Cabana, Michael D., editor. "Bardet-Biedl Syndrome." 5-Minute Pediatric Consult, 9th ed., Wolters Kluwer, 2025. Pediatrics Central, peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617807/all/Bardet_Biedl_syndrome.
Bardet-Biedl syndrome. In: Cabana MDM, ed. 5-Minute Pediatric Consult. Wolters Kluwer; 2025. https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617807/all/Bardet_Biedl_syndrome. Accessed August 10, 2026.
Bardet-Biedl syndrome. (2025). In Cabana, M. D. (Ed.), 5-Minute Pediatric Consult (9th ed.). Wolters Kluwer. https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617807/all/Bardet_Biedl_syndrome
Bardet-Biedl Syndrome [Internet]. In: Cabana MDM, ed. 5-Minute Pediatric Consult. Wolters Kluwer; 2025. [cited 2026 August 10]. Available from: https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617807/all/Bardet_Biedl_syndrome.
* Article titles in AMA citation format should be in sentence-case
TY - ELEC
T1 - Bardet-Biedl syndrome
ID - 617807
ED - Cabana,Michael D,
BT - 5-Minute Pediatric Consult
UR - https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617807/all/Bardet_Biedl_syndrome
PB - Wolters Kluwer
ET - 9
DB - Pediatrics Central
DP - Unbound Medicine
ER -
