Abstract:

Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked dominant genetic disease, the main clinical features are related to the ocular, facial, cardiovascular and dental anomalies, the abnormities of eye is mainly congenital cataract, and with a higher incidence. In recent years many researches of OFCD syndrome were reported, in order to improve the understanding of the OFCD syndrome, we make a review of the advances of clinical features, gene research and therapy of OFCD.