An Incomplete Ectrodactyly Ectodermal Cleft Syndrome – A Case Report

Ectrodactyly ectodermal dysplasia and clefting syndrome (EEC syndrome) is a rare genetic anomaly involving multiple structures and organ systems. It can be due to spontaneous mutation or autosomal dominant inheritance. The prevalence of this condition is 1-9 / 100 000 population. The common structures affected in this condition are the hair, nails, skin, eye, ear and the skeletal system.

This is the report of a 12 year old male child presenting to the paediatric OPD with complaints of hypohidrosis and febrile episodes past few months. There was no history of breathlessness or chest pain. On examination he was found to have alopecia, misalignment of teeth, clefting of both the lower extremities (absence of the second and the third toe on the right foot and the third toe on the left foot with syndactyly in both feet). There was no involvement of the eye and ear. There were no facial deformities. No cleft lip or cleft palate. External genitalia appeared normal. No abnormalities were found on renal ultrasound. The child was born of non consanguineous marriage. Younger sibling and parents are asymptomatic. He was provisionally diagnosed to have EEC syndrome.