EEC syndrome

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.