Imperforate anus is a rare associated finding in blepharocheilodontic syndrome

Am J Med Genet A. 2010 Feb;152A(2):438-40. doi: 10.1002/ajmg.a.33207.


Blepharocheilodontic (BCD) syndrome is a rare autosomal-dominant condition that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. It exhibits considerable phenotypic variability among affected individuals. An additional rare associated manifestation is imperforate a.u. (IA), which has been reported in three cases [Guyuron et al. (1995); J Craniofac Surg 6:392-394; Gorlin et al. (1996); Am J Med Genet 65:109-112; da Silva Lopes et al. (2003); Am J Med Genet Part A 121A:266-270]. Here we report on a family with BCD that includes IA, confirming that anorectal anomalies are a part of BCD syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics*
  • Anus, Imperforate / genetics*
  • Child, Preschool
  • Cleft Lip / genetics
  • Cleft Palate / genetics
  • Ectropion / genetics*
  • Eyelids / abnormalities*
  • Female
  • Genes, Dominant
  • Humans
  • Infant
  • Pedigree
  • Phenotype
  • Syndrome*
  • Tooth Abnormalities / genetics*