Definition of Pfeiffer syndrome
Pfeiffer syndrome: A syndrome of craniosynostosis (premature fusion of the cranial sutures) due to mutation in FGFR (fibroblast growth factor receptor) characterized by bulging eyes (proptosis) due to shallow eye sockets, underdevelopment of the midface and broad short thumbs and big toes.
There are three types of Pfeiffer syndrome:
Pfeiffer syndrome is inherited in an autosomal dominant manner. Type 1 is due to mutation in the FGFR1 and (more often) FGFR2 genes. Types 2 and 3 are due to mutation in the FGFR1 gene.
The health care of children with Pfeiffer syndrome is often best managed by a multidisciplinary team which may include a neurosurgeon, plastic surgeon, otolaryngologist, dentist, audiologist, speech pathologist, pediatrician, and geneticist. A dozen or more surgeries may be required over a lifetime. The first surgery is usually to relieve the premature fusion of the cranial sutures. Hydrocephalus, upper airway obstruction, and exposure of the cornea by the proptosis may require shunting, tracheostomy, and surgical eyelid closure, respectively.
The prognosis (outlook) is most favorable with Pfeiffer syndrome type 1. Types 2 and 3 carry an increased risk of early death.
Last Editorial Review: 8/28/2013
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