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VOLUME 10 , ISSUE 2 ( May-Aug, 2017 ) > List of Articles


Pfeiffer Syndrome

Mrs. S Saranya

Keywords : Pfeiffer syndrome, craniosynstosis, mutations, birth defect

Citation Information : Saranya MS. Pfeiffer Syndrome. 2017; 10 (2):52-55.

DOI: 10.5005/pjn-10-2-52

License: CC BY-NC 4.0

Published Online: 01-06-2011

Copyright Statement:  Copyright © 2017; The Author(s).


Pfeiffer syndrome is a rare genetic disorder characterized by premature fusion of certain skull bones (craniosynostosis) and other birth defects in the hands and feet. There are three subtypes of the syndrome, with Types II and III being the most severe. There is no specific treatment for Pfeiffer syndrome. Treatment is directed at improving the individual's symptoms. Pfeiffer syndrome is associated with mutations (changes) in the FGFR genes. It affects about 1 out of every 100,000 children. Pfeiffer syndrome can be inherited or can occur due to a new mutation, or change, in the involved gene. In cases of severe Pfeiffer syndrome, a new mutation is typically the cause.

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