Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome: Ocular Findings and Surgical Treatment.

Purpose: Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is a rare genetic disorder. We present ocular findings and their treatment in patients with EEC.

Methods And Results: We report on 3 female patients (aged 59, 45, and 11 years) suffering from EEC with varying extraocular and ocular severity of phenotypic expression of the disease.

A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes.

The ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3; OMIM #604292), the Rapp-Hodgkin syndrome (RHS), and various other syndromes are caused by mutations in the TP63 gene, which encodes a p53-like transcription factor. Here, we report on a woman aged 37 years and her daughter aged 3 years with the previously reported c.1028G>A (p.