Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease

J Dent Res. 2017 Nov;96(12):1361-1369. doi: 10.1177/0022034517716913. Epub 2017 Jun 29.


Standardized guidelines for the oral health management of patients with rare diseases exhibiting morphologic anomalies are currently lacking. This review considers Bardet-Biedl syndrome (BBS), a monogenic autosomal recessive nonmotile ciliopathy, as an archetypal condition. Dental anomalies are present in a majority of individuals affected by BBS due to abnormal embryonic orofacial and tooth development. Genetically encoded intrinsic oral structural anomalies and heterogeneous BBS clinical phenotypes and consequent oral comorbidities confound oral health management. Since the comorbid spectrum of BBS phenotypes spans diabetes, renal disease, obesity, sleep apnea, cardiovascular disease, and cognitive disorders, a broad spectrum of collateral oral disease may be encountered. The genetic impact of BBS on the anatomic development of oral components and oral pathology encountered in the context of various BBS phenotypes and their associated comorbidities are reviewed herein. Challenges encountered in managing patients with BBS are highlighted, emphasizing the spectrum of oral pathology associated with heterogeneous clinical phenotypic expression. Guidelines for provision of care across the spectrum of BBS clinical phenotypes are considered. Establishment of integrated medical-dental delivery models of oral care in the context of rare diseases is emphasized, including involvement of caregivers in the context of managing these patients with special needs.

Keywords: Wnt signalling pathway; cilia; ciliopathies; maxillofacial abnormalities; mutation; registries.

Publication types

  • Review

MeSH terms

  • Bardet-Biedl Syndrome / complications*
  • Craniofacial Abnormalities / etiology*
  • Craniofacial Abnormalities / therapy*
  • Dental Care for Chronically Ill*
  • Humans
  • Mouth Diseases / etiology*
  • Mouth Diseases / therapy*
  • Rare Diseases