This website provides information on patients with mutations in the EIF4A3 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the EIF4A3 gene is a multisystem disorder characterized by microstomia, micrognathia, midline cleft mandible, cleft palate, Robin sequence, absence of central lower incisors, minor ears anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet.

Not all individuals with a mutation in the EIF4A3 gene have full phenotype.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the EIF4A3 gene.

Maria Rita Passos-Bueno, PhD, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Brazil, passos@usp.br

Roseli Maria Zechi-Ceide, PhD, Hospital for Rehabilitation of the Craniofacial Anomalies, University of São Paulo, Bauru, Brazil, roselizc@usp.br