Parents

Craniofrontonasal syndrome occurs when the EFNB1 gene is mutated in heterozygous or hemizygous state (one of the two chromosome X in females or the only one in males). As it is located on Xq13.1, it is a Dominant X-linked disorder. Contrary as expected, females are more severely affected than males by a mechanism called cellular interference. Affected females will present with midline defects, a severe hypertelorism, a grooved nasal tip and unilateral or bilateral coronal craniosynostosis, as well as some other extracranial features.