Fraser Syndrome with Major Hydrocephalus

Fraser syndrome (Cryptophthalmos syndrome) is a rare malformative genetic syndrome. Cryptophthalmos is one of the most common features. Etiopathogenesis is controversial and the management is multidisciplinary. We report a case of Fraser syndrome with a review of the literature. The newborn was hospitalized in neonatal unit care, the University Hospital Mohamed VI, Marrakesh. With a similar case in siblings. The diagnosis was based on two major criteria:cryptophthalmos, syndactyly and a minor criterion: the labio-sphenoidal cleft. In addition, there was a major hydrocephalus with a reduction of the cerebral parenchyma. The karyotype was normal. The treatment required a multidisciplinary approach, our patient was not operable. Prenatal diagnosis is essential to make the diagnosis in time and to make a therapeutic decision. Fraser syndrome remains a major surgical and aesthetic challenge, particularly in developing countries.