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Yang, C. Blepharocheilodontic Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4993 (accessed on 22 September 2026).
Yang C. Blepharocheilodontic Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4993. Accessed September 22, 2026.
Yang, Catherine. "Blepharocheilodontic Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4993 (accessed September 22, 2026).
Yang, C. (2020, December 24). Blepharocheilodontic Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4993
Yang, Catherine. "Blepharocheilodontic Syndrome." Encyclopedia. Web. 24 December, 2020.
Blepharocheilodontic Syndrome
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/blepharocheilodontic-syndrome

Blepharocheilodontic (BCD) syndrome is a disorder that is present at birth. It mainly affects the eyelids (blepharo-), upper lip (-cheilo-), and teeth (-dontic).

genetic conditions

References

  1. Ababneh FK, Al-Swaid A, Elhag A, Youssef T, Alsaif S. Blepharo-cheilo-dontic(BCD) syndrome: expanding the phenotype, case report and review of literature. AmJ Med Genet A. 2014 Jun;164A(6):1525-9. doi: 10.1002/ajmg.a.36465.
  2. Ghoumid J, Stichelbout M, Jourdain AS, Frenois F, Lejeune-Dumoulin S,Alex-Cordier MP, Lebrun M, Guerreschi P, Duquennoy-Martinot V, Vinchon M, FerriJ, Jung M, Vicaire S, Vanlerberghe C, Escande F, Petit F, Manouvrier-Hanu S.Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutationsin CDH1 and CTNND1. Genet Med. 2017 Sep;19(9):1013-1021. doi:10.1038/gim.2017.11.
  3. Gorlin RJ, Zellweger H, Curtis MW, Wiedemann HR, Warburg M, Majewski F,Gillessen-Kaesbach G, Prahl-Andersen B, Zackai E. Blepharo-cheilo-dontic (BCD)syndrome. Am J Med Genet. 1996 Oct 16;65(2):109-12.
  4. Guion-Almeida ML, Rodini ES, Kokitsu-Nakata NM, Bologna-Amantini D.Blepharo-Cheilo-Dontic (BCD) syndrome: report on four new patients. Am J MedGenet. 1998 Mar 5;76(2):133-6.
  5. Valdéz-de la Torre MH, Quintana-García M, Canún S. Blepharo-cheilo-dontic(BCD) syndrome in two Mexican patients. Am J Med Genet. 1999 Jul 16;85(2):157-9.
  6. Weaver KN, Rutledge KD, Grant JH, Robin NH. Imperforate anus is a rareassociated finding in blepharocheilodontic syndrome. Am J Med Genet A. 2010Feb;152A(2):438-40. doi: 10.1002/ajmg.a.33207.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
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Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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