SUMMARY
The “EEC Syndrome” (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is a rare disorder with autosomal dominant inheritance and incomplete penetrance. Ocular findings include photophobia, chronic blepharitis, keratoconjunctivitis sicca, superficial corneal vascularization and defects of lacrimal duct system. We are presenting a case report of ectrodactyly and ectodermal dysplasia with important ocular involvement causing decreased visual acuity. Clefting of the lip and palate were absent due, it is postulated, to the variable expressivity of EEC Syndrome. Early and continued ophthalmologic evaluation and management are imperative, since decreased visual acuity can be the major debilitating problem in this disorder.
Key words:
ectrodactyly; ectodermal dysplasia; cleft lip/palate