Crouzon syndrome

Crouzon syndrome is a rare genetic disorder caused by mutations in the FGFR2 gene that leads to craniosynostosis, the premature fusion of the fibrous joints between the bones of the skull before the brain has finished growing. This early fusion restricts and distorts the growth of the skull and facial bones, typically producing a distinctively shaped head, bulging and widely spaced eyes, a beaked nose, an underdeveloped upper jaw and a receding chin. Because the skull cannot expand normally, affected individuals can experience increased pressure inside the skull, which if untreated may contribute to vision problems, hearing loss and, in severe cases, developmental complications. Unlike some related craniosynostosis syndromes, most individuals with Crouzon syndrome have normal intelligence. The condition is typically inherited in an autosomal dominant pattern, meaning a single copy of the altered gene from one parent is sufficient to cause it, though many cases arise from new spontaneous mutations. Treatment usually involves a series of surgeries beginning in infancy to relieve pressure on the brain, reshape the skull and correct facial structure, along with ongoing monitoring of vision, hearing and breathing throughout childhood.