- Pfeiffer syndrome
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DiseasesDB = 32145
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OMIM = 101600
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MeshID = D000168Pfeiffer syndrome is a
genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis ), which prevents further growth of theskull and affects the shape of the head and face. It is named for Rudolf Arthur Pfeiffer. [WhoNamedIt|synd|3477] [cite journal |author=Pfeiffer RA |title=Dominant Hereditary Acrocephalosyndactylia |language=German |journal=Zeitschrift für Kinderheilkunde |volume=90 |issue= |pages=301–20 |year=1964 |pmid=14316612 |doi=]Pfeiffer syndrome affects about 1 in 100,000 individuals. cite journal |author=Vogels A, Fryns JP |title=Pfeiffer syndrome |journal=Orphanet J Rare Dis |volume=1 |issue= |pages=19 |year=2006 |pmid=16740155 |doi=10.1186/1750-1172-1-19 |url=http://www.ojrd.com/content/1//19]
Pathophysiology and presentation
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.Classification
Pfeiffer syndrome is divided into three subtypes.
* Type 1 or "classic" Pfeiffer syndrome has symptoms as described above. Most individuals with type 1 have normal intelligence and a normal life span.
* Types 2 and 3 are more severe forms of Pfeiffer syndrome, often involving problems with the nervous system. Type 2 is distinguished from type 3 by more extensive fusion of bones in the skull, leading to a "cloverleaf" shaped head.Genetics
It is associated with deficiencies of
fibroblast growth factor receptor s.cite journal |author=Chen L, Deng CX |title=Roles of FGF signaling in skeletal development and human genetic diseases |journal=Front. Biosci. |volume=10 |issue= |pages=1961–76 |year=2005 |pmid=15769677 |doi= |url=http://www.bioscience.org/2005/v10/af/1671/fulltext.htm] cite journal |author=Cornejo-Roldan LR, Roessler E, Muenke M |title=Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome |journal=Hum. Genet. |volume=104 |issue=5 |pages=425–31 |year=1999 |month=May |pmid=10394936 |doi= |url=http://link.springer.de/link/service/journals/00439/bibs/9104005/91040425.htm] cite journal |author=Wilkie AO, Patey SJ, Kan SH, van den Ouweland AM, Hamel BC |title=FGFs, their receptors, and human limb malformations: clinical and molecular correlations |journal=Am. J. Med. Genet. |volume=112 |issue=3 |pages=266–78 |year=2002 |month=October |pmid=12357470 |doi=10.1002/ajmg.10775]More specifically, mutations in the
FGFR1 andFGFR2 gene s 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. Amutation in either gene causes prolonged signaling, which can promote early maturation of bone cells in a developingembryo 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.
This condition is inherited in an
autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.Other facts
The singer Prince, and former wife, dancer
Mayte Garcia had a son with Pfeiffer syndrome type 2, but he died shortly after birth.References
Wikimedia Foundation. 2010.
