This website provides information on patients with mutations in the EFNB1 gene, including clinical data, molecular data, management, and research options.

The craniofrontonasal syndrome caused by mutations in the EFNB1 gene is an X-linked multisystem disorder characterized by midline defects, such as severe hypertelorism, a grooved nasal tip and unilateral or bilateral coronal craniosynostosis, including some other extracranial features. It is characterized by the paradox that the phenotype will be more severe in heterozygous females (which manifest with craniofrontonasal syndrome) than in hemizygous males, which are considered to be carriers or minimally affected.
Not all individuals with a mutation in the EFNB1 gene have these features.

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 EFNB1 gene.

Jorge Román Corona Rivera, MD, PhD, Department of Molecular Genetics and Genomics, ‘Dr Enrique Corona Rivera’ Institute of Human Genetics, Health Sciences University Centre, University of Guadalajara; and Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, ‘Dr. Juan I. Menchaca’ Civil Hospital of Guadalajara, Guadalajara, Jalisco, Mexico, rocorona@cucs.udg.mx

Christian Peña-Padilla, MD, Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, ‘Dr. Juan I. Menchaca’ Civil Hospital of Guadalajara, Guadalajara, Jalisco, Mexico, chris_15348@hotmail.com

Rocío Carolina Cortés-Pastranaa, MD, Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, ‘Dr. Juan I. Menchaca’ Civil Hospital of Guadalajara, Guadalajara, Jalisco, Mexico, caro_2297@hotmail.com