Ectrodactyly Ectodermal Dysplasia Cleft Syndrome with Fistula and Nasolacrimal Duct Obstruction - A Case Report

Abstract

Ectrodactyly ectodermal dysplasia cleft (EEC) syndrome is a rare multiple congenital anomaly syndrome characterised by ectodermal dysplasia, distal limb anomaly, cleft lip and palate, and lacrimal duct anomalies. We report a rare case of EEC syndrome in a 2 year old girl who presented with watering from both eyes from three months of age. She had undergone bilateral cleft lip repair with primary nose  correction along with a anterior hard palate repair and   palatoplasty. Examination showed low set ears, bilateral  ectrodactyly, bilateral agenesis of leg, bilateral cleft lip and cleft palate, micrognathia, along with congenital punctal atresia of all 4 puncte, lacrimal fistula on the right side with regurgitation of pus through the lacrimal fistula on pressure over lacrimal sac. She underwent right eye dacryocystectomy with fistulectomy. Timely management with dacryocystectomy and dacryocystorhinostomy can prevent fistula and mucocele in such patients