Wcn24-2038 Orofaciodigital Syndrome Type 1: Clinical and Genetic Heterogeneity

Orofaciodigital syndrome type 1 (OFD1) is an orphan disease with a prevalence of 1:50,000 1:250,000, manifested by abnormalities of the facial part of the skull, oral cavity and fingers, as well as damage to internal organs, including the kidneys. The disease is caused by a mutation in the OFD1 gene, which encodes the proteins of the centrosome and the basal body of primary cilia, is inherited according to an X-linked dominant mode of inheritance and occurs predominantly in females, leading to the intrauterine death of male embryos.