Pfeiffer syndrome
Common Name(s)
Pfeiffer syndrome
Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Pfeiffer syndrome" for support, advocacy or research.
The mission of the World Craniofacial Foundation is to provide help, hope, and healing for children with craniofacial abnormalities and their families.
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Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Pfeiffer syndrome" for support, advocacy or research.
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.orgRecommended Apps
Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.
Finding the right clinical trial for Pfeiffer syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.
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:
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 ...
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 ...
To view other free, full-text articles on human participants, please click on the link below.
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:
Journal: Diagn Interv Imaging. 2012 Oct;93(10):785-9.
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 ...
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 ...
To view other free, full-text review articles on human participants, please click on the link below.
Symptoms, Diagnosis, and Treatment
Clinical Trial Information This information is provided by ClinicalTrials.gov
Condition Summary: Advanced Cholangiocarcinoma
Finding the right clinical trial for Pfeiffer syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.