Definition for ectrodactyly-ectodermal dysplasia-clefting syndrome

Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC) is an autosomal dominant disorder characterized by the triad of ectrodactyly, ectodermal dysplasia, and facial clefting (Celli, Duijf, Hamel, et al. more

Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC) is an autosomal dominant disorder characterized by the triad of ectrodactyly, ectodermal dysplasia, and facial clefting (Celli, Duijf, Hamel, et al. 1999). Other features noted in association with EEC include vesicoureteral reflux, recurrent urinary tract infections (Ramirez, Lammer, 2004), obstruction of the nasolacrimal duct (Peterson-Falzone, Hardin-Jones, Karnell, 2001), decreased pigmentation of the hair and skin, missing or abnormal teeth, enamel hypoplasia, absent punctae in the lower eye lids, photophobia, occasional cognitive impairment and kidney anomalies. less