Incomplete EEC (Ectrodactyly, Ectodermal dysplasia and cleft lip/palate) syndrome with bilateral Entropion: A Case Report
Abstract
EEC syndrome is a very rare syndrome having ectrodactyly, ectodermal dysplasia and cleft lip/ palate as cardinal signs with other variable associated features. Very few cases being reported. It is mostly inherited in an autosomal dominant manner. Such cases need coordinated multidisciplinary approach for treatment. A case of incomplete EEC syndrome having ectrodactyly and cleft palate with absence of the signs of ectodermal dysplasia with no systemic anomalies was reported. Other features noted in this case were syndactyly of fingers and toes with bilateral entropion.
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Introduction
EEC syndrome is a genetic developmental disorder characterized by three cardinal signs i.e. ectrodactyly, ectodermal dysplasia and oro-facial clefts (cleft lip/palate).1 Also known as ―split hand – split foot—ectodermal dysplasia –cleft syndrome‖. The presence of the cardinal signs together is not mandatory and any of the three can be present with variable expressions.2 The exact prevalence it is not known. More than 300 cases have been reported in the literature.3
Every time all features of this syndrome are not present so the term ―Incomplete EEC‖ was coined by Pries et al for a combination in which one or more components are missing. 4 Kuster and Majanski reported 8 cases in 2 families without ectrodactyly coining the term ― Oligosymptomatic EEC".5
The present article is a case report of ―Incomplete EEC ―having ectrodactyly, cleft palate and entropion with absence of the signs of ectodermal dysplasia with no other systemic anomalies.
Conclusion
This case of EEC calls for a heightened awareness of the possibility of EEC Syndrome in the general population. It would be helpful in early diagnosis and better management of such patients with the earlier diagnosis.