Pfeiffer syndrome

Pfeiffer syndrome is a rare genetic disorder of skull development, characterized by premature fusion of certain skull bones, known as craniosynostosis, which alters the shape of the head and face, along with abnormalities of the hands and feet such as wide and deviated thumbs and big toes. It results from mutations in the fibroblast growth factor receptor genes FGFR1 on chromosome eight or FGFR2 on chromosome ten, which are essential for normal bone development. Facial features typically include a prominent forehead and wide set, bulging eyes with an underdeveloped upper jaw, and more than half of affected children experience hearing loss, dental problems and sometimes sleep apnea, with shortened and occasionally webbed fingers and toes. The condition has three recognized types: type one is the mildest, usually with normal intelligence, while types two and three are more severe and often fatal in infancy due to neurological complications. German geneticist Rudolf Arthur Pfeiffer described the condition in 1964, documenting eight affected individuals across three generations of one family with an autosomal dominant inheritance pattern; the syndrome affects roughly one in one hundred thousand births.