Fgfr Gene Mutation and Pfeiffer Syndrome

Abstract

Pfeiffer syndrome is a genetic disease caused by a defect in the FGFR-1 or FGFR-2 genes. This syndrome affects the skeleton, whether it is a protrusion of the skull bone or problems in the limbs. Not only this, but also affects the eyes, leading to their protrusion, in addition to the possibility of hydrocephalus, and internal viscera imbalance. There are 3 types of the syndrome classified according to the clinical examination of the case, where the symptoms range from mild to severe, which requires surgical intervention. It is easy to diagnose the fetus early through ultrasound examination, which shows ossification in the bones of the skull and deformities of the fingers. The incidence of Pfeiffer syndrome is limited, as it affects one child in 100,000 cases. Genetic testing facilitates early diagnosis and thus helps in rapid treatment and prevention of deterioration of the condition.