Pfeiffer syndrome

Common Name(s)

Pfeiffer syndrome

Pfeiffer syndrome is a disorder that affects the bones in the skull, hands and feet. Signs and symptoms can include craniosynostosis, which prevents normal skull growth and affects the shape of the head and face; distinctive facial features including bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose; hearing loss; and dental problems. Other features may include broad and deviated thumbs and great toes; brachydactyly; and syndactyly. It is caused by mutations in the FGFR1 or FGFR2 genes and is inherited in an autosomal dominant manner. The syndrome is divided into 3 subtypes (types 1, 2 and 3) based on the presence and severity of signs and symptoms. Management typically includes various surgical interventions.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pfeiffer syndrome" for support, advocacy or research.

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World Craniofacial Foundation

The mission of the World Craniofacial Foundation is to provide help, hope, and healing for children with craniofacial abnormalities and their families.

Last Updated: 7 Nov 2013

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pfeiffer syndrome" for support, advocacy or research.

Logo
World Craniofacial Foundation

The mission of the World Craniofacial Foundation is to provide help, hope, and healing for children with craniofacial abnormalities and their families.

http://www.worldcf.org

Last Updated: 7 Nov 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pfeiffer syndrome" returned 11 free, full-text research articles on human participants. First 3 results:

The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself.
 

Author(s): Sally Jay, Akira Wiberg, Marc Swan, Tracy Lester, Louise J Williams, Indira B Taylor, David Johnson, Andrew O M Wilkie

Journal: Am. J. Med. Genet. A. 2013 May;161A(5):1158-63.

 

Pfeiffer syndrome is an autosomal dominant condition classically combining craniosynostosis with digital anomalies of the hands and feet. The majority of cases are caused by heterozygous mutations in the third immunoglobulin-like domain (IgIII) of FGFR2, whilst a small number of cases ...

Last Updated: 23 Apr 2013

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High-grade vesicoureteral reflux in Pfeiffer syndrome.
 

Author(s): Abolhassan Seyedzadeh, Farshid Kompani, Ebrahim Esmailie, Sara Samadzadeh, Bohaire Farshchi

Journal: Urol J. 2008 ;5(3):200-2.

 

Last Updated: 30 Sep 2008

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Monoblock craniofacial internal distraction in a child with Pfeiffer syndrome: a case report.
 

Author(s): Jaiho Chung, Dong Ha Park, Soo Han Yoon

Journal: J. Korean Med. Sci.. 2008 Apr;23(2):342-6.

 

A 7-yr-old boy visited our surgical center with Pfeiffer syndrome type 1, presenting with macrocrania, broad big toe and thumb, exophthalmos, tongue protrusion, malocclusion with midfacial retrusion, mild respiratory difficulty due to minor upper airway obstruction, and developmental ...

Last Updated: 25 Apr 2008

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pfeiffer syndrome" returned 4 free, full-text review articles on human participants. First 3 results:

Pfeiffer syndrome type II discovered perinatally: Report of an observation and review of the literature.
 

Author(s): H Ben Hamouda, Y Tlili, S Ghanmi, H Soua, S Jerbi, M M Souissi, H Hamza, M T Sfar

Journal: Diagn Interv Imaging. 2012 Oct;93(10):785-9.

 

Last Updated: 19 Oct 2012

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Pfeiffer syndrome.
 

Author(s): Annick Vogels, Jean-Pierre Fryns

Journal:

 

Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal ...

Last Updated: 26 Jun 2006

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A case of Pfeiffer syndrome.
 

Author(s): Moon Sung Park, Jae Eon Yoo, Jaiho Chung, Soo Han Yoon

Journal: J. Korean Med. Sci.. 2006 Apr;21(2):374-8.

 

Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea. The authors report with a review of literature the case of a newborn baby with Pfeiffer syndrome, manifested ...

Last Updated: 14 Apr 2006

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Clinical Trial Information This information is provided by ClinicalTrials.gov

A Phase II, Single Arm Study of BGJ398 in Patients With Advanced Cholangiocarcinoma
 

Status: Recruiting

Condition Summary: Advanced Cholangiocarcinoma

 

Last Updated: 18 Jul 2014

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Dovitinib for Gastric Cancer With FGFR2 Amplification
 

Status: Recruiting

Condition Summary: Gastric Cancer

 

Last Updated: 13 Jan 2014

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