Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination

Deepak Sharma; Chetan Kumar; Sanjay Bhalerao; Aakash Pandita; Sweta Shastri; Pradeep Sharma

doi:10.3389/fped.2015.00051

Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination

Front Pediatr. 2015 Jun 16:3:51. doi: 10.3389/fped.2015.00051. eCollection 2015.

Authors

Deepak Sharma¹, Chetan Kumar², Sanjay Bhalerao², Aakash Pandita¹, Sweta Shastri³, Pradeep Sharma⁴

Affiliations

¹ Department of Neonatology, Fernandez Hospital , Hyderabad , India.
² Department of Pediatrics, Madras Institute of Orthopaedics and Traumatology , Chennai , India.
³ ACPM Medical College , Dhule , India.
⁴ Rabindranath Tagore Medical College , Udaipur , India.

Abstract

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1 in 90,000 in population. It is known with various names including split hand-split foot-ectodermal dysplasia-cleft syndrome or split hand, cleft hand, or lobster claw hand/foot. We report first case of EEC with associated heart disease (Tetralogy of Fallot) who was diagnosed as EEC on the basis of clinical features and EEC was confirmed with genetic analysis.

Keywords: R280C mutation; TP63 gene; Tetralogy of Fallot; cleft hand or lobster claw hand/foot; ectrodactyly ectodermal dysplasia–cleft.