NORD gratefully acknowledges Nathaniel H. Robin, MD, Professor of Genetics and Pediatrics, University of Alabama at Birmingham, for assistance in the preparation of this report.
Pfeiffer syndrome is a rare genetic disorder characterized by premature fusion of certain skull bones (craniosynostosis), and abnormally broad and medially deviated thumbs and great toes. Most affected individuals also have differences to their midface (protruding eyes) and conductive hearing loss. Three forms of Pfeiffer syndrome are recognized, of which types II and III are the more serious.
Pfeiffer syndrome is an autosomal dominant condition associated with mutations in the genes fibroblast growth factor receptor-2 (FGFR2
) and fibroblast growth factor receptor-1 (FGFR1
Pfeiffer syndrome is now known to be a member of a group of conditions caused by mutations in the FGFR
genes including Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2
-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans and Muenke syndrome. (For more information on these conditions, please see the Related Disorders section below.)
Pfeiffer Syndrome Resources
(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., craniofacial malformations, digital and skeletal abnormalities, hearing loss, etc.].)
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