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EEC syndrome

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) is an autosomal dominant condition with variable penetrance comprising:

  • ectrodactyly
  • ectodermal dysplasia
  • facial clefting including cleft lip and palate

Common associated features include:

  • vesicoureteric reflux leading to recurrent urinary tract infections
  • nasolacrimal duct obstruction leading to tearing
  • hypopigmentation
  • hypoplasia or absence of teeth

There are thought to be three different forms of EEC syndrome with phenotypic similarities but different gene abnormalities(1).

 

Ref: (1) van Bokhoven H et al. (2001). Am J Hum Genet 69: 481-492.

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