Novel Gene Mutations Associated with Crouzon Syndrome

Abstract

Crouzon syndrome exhibits consideration of phenotypic heterogeneity, within the aetiology of which
genetics play a crucial role. The FGFR2 gene mediates extracellular signals into cells and mutations within
the FGFR2 gene cause Crouzon syndrome. The review summarizes the genetic phenotype study and genetic
evaluation related to Crouzon syndrome (CS) which frequently determines the degree of complexity, guide
management, guidance and intervention related to this craniofacial defect. CS is a disorder characterized
by early fusion of certain skull bones (craniosynostosis). This prevents normal growth of the skull, which
may affect the form of the top and face. Signs and symptoms of Crouzon syndrome may include wide-set,
bulging eyes; strabismus (misalignment of the eyes); “beak-shaped” nose; and an underdeveloped upper
jawbone. Other features may include dental problems, deafness, and/or harelip and palate. The severity of
signs and symptoms can vary among affected people, even within a family. Intelligence is typically normal,
but intellectual disability could also be present. Crouzon syndrome is caused by changes (mutations) within
the FGFR2 gene and is inherited in an autosomal dominant manner. Treatment may involve surgeries to stop
complications, improve function, and aid in healthy psychosocial development.