EEC syndrome
Last reviewed 01/2018
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.