DR. BRUTTENDU MOHARANA

DR. SUCHETA PARIJA

Abstract

Ectrodactyly- ectodermal dysplasia-cleft lip or palate syndrome (EEC syndrome/ split hand-split foot malformation: SHFM) is comprised of the triad of ectrodactyly, ectodermal dysplasia and cleft lip/palate/both. It is rare and inherited as an autosomal dominant disorder. Manifestation of all the anomalies of the triad is uncommon. Here we report a case of EEC where along with the complete triad, dry skin and hypopigmented skin patches were also present. There were additional clinical features of unilateral anophthalmos, contralateral iridofundal coloboma, and sacral dimple. This is perhaps the first case report of such an association.