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BBS Common features: Obesity , Hyperphagia, Visual and cognitive impairment, renal anomalies, postaxial polydactyly

BBS has a highly variable phenotype that evolves significantly during childhood and/or adolescence2

Phenotype can vary between siblings.

*Company-estimated number of affected individuals.

References: 1. Forsythe E et al. Front Pediatr. 2018. doi:10.3389/fped.2018.00023. 2. Forsythe E, Beales PL. Eur J Hum Genet. 2013;21(1):8-13. 3. Pigeyre M et al. Clin Sci (Lond). 2016;130(12):943-986. 4. Sherafat-Kazemzadeh R et al. Pediatr Obes. 2013;8(5):e64-e67. 5. Pomeroy J et al. Pediatr Obes. 2021. doi:10.1111/ijpo.12703. 6. Beales PL et al. J Med Genet. 1999;36(6):437-446. 7. Vlahovic AM, Haxhija EQ. Pediatric and Adolescent Plastic Surgery for the Clinician. Springer; 2017:89-105. 8. National Institutes of Health. MedlinePlus® Genetics. Accessed October 27, 2021. 9. Eneli I et al. Appl Clin Genet. 2019;12:87-93. 10. Huvenne H et al. Obes Facts. 2016;9(3):158-173. 11. Seo S et al. Hum Mol Genet. 2009;18(7):1323-1331. 12. Heymsfield SB et al. Obesity (Silver Spring). 2014;22(01):S1-S17. 13. Forsythe E et al. Clin Genet. 2015;87(4):343-349. 14. Vos N et al. Curr Diab Rep. 2020. doi.101007/s11892-020-01327-7. 15. Kenny J et al. Per Med. 2017;14(5):447-456. 16. Poitou C et al. Eur J Endocrinol. 2020;183(5):R149-R166. 17. Srivastava G, Apovian CM. Nat Rev Endocrinol. 2018;14(1):12-24.

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