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.
What is Pfeiffer Syndrome? Pfeiffer Syndrome (first reported in 1964) is a condition resulting from premature fusion of the sutures of the skull and deformity of the skull.
Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull ...
Pfeiffer Sydrome: Overview: Pfeiffer syndrome was not recognized as a unique syndrome until 1964, when R.A. Pfeiffer first described eight individuals with this condition ...
n. Acrocephalosyndactyly with broad short thumbs and great toes, often with duplication of the great toes and syndactyly of other digits. Also called Pfeiffer syndrome
Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial ...