Ciliopathies: types

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Ciliopathies: types. Joubert syndrome (JS), Bardet-Biedl syndrome (BBS). Fully referenced neurology checklist.

Major ciliopathies

  • Joubert syndrome (JS)
  • Bardet-Biedl syndrome (BBS)
  • Oral-facial digital syndrome (OFDS): types I to XIV

Other ciliopathies

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References

  1. Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016; 5:12.
  2. Thomas S, Legendre M, Saunier S, et al. TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet 2012; 91:372-378. 
  3. Knopp C, Rudnik-Schöneborn S, Eggermann T, et al. Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing. Mol Cell Probes 2015; 29:299-307. 
  4. Zhang Y, Seo S, Bhattarai S, et al. BBS mutations modify phenotypic expression of CEP290-related ciliopathies. Hum Mol Genet 2014; 23:40-51. 
  5. Hayes LL, Simoneaux SF, Palasis S, Niyazov DM. Laryngeal and tracheal anomalies in an infant with oral-facial-digital syndrome type VI (Váradi-Papp): report of a transitional type. Pediatr Radiol 2008; 38:994-998.
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