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Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. It is named for Rudolf Arthur Pfeiffer.[1][2]
Pfeiffer syndrome affects about 1 in 100,000 individuals. [3]
Many of the characteristic facial features of Pfeiffer syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to bulging and wide-set eyes, an underdeveloped upper jaw, and a beaked nose. About 50 percent of children with Pfeiffer syndrome have hearing loss (hearing loss with craniofacial syndromes), and dental problems are also common.
Pfeiffer syndrome is divided into three subtypes.
It is associated with deficiencies of fibroblast growth factor receptors.[4][5][6]
More specifically, mutations in the FGFR1 and FGFR2 genes cause Pfeiffer syndrome. The FGFR1 and FGFR2 genes play an important role in signaling the cell to respond to its environment, perhaps by dividing or maturing. A mutation in either gene causes prolonged signaling, which can promote early maturation of bone cells in a developing embryo and the premature fusion of bones in the skull, hands, and feet.
Type 1 Pfeiffer syndrome is caused by mutations in either the FGFR1 or FGFR2 gene. Types 2 and 3 are caused by mutations in the FGFR2 gene.
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