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Pfeiffer Syndrome

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Nathaniel H. Robin, MD, Professor of Genetics and Pediatrics, University of Alabama at Birmingham, for assistance in the preparation of this report.

Synonyms of Pfeiffer Syndrome

  • acrocephalosyndactyly, type V
  • ACSV
  • craniofacial-skeletal-dermatologic syndrome
  • Noack syndrome

Disorder Subdivisions

  • Pfeiffer syndrome type I
  • Pfeiffer syndrome type II
  • Pfeiffer syndrome type III

General Discussion

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 an abnormal midface, with 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 fibroblast growth factor receptor-2 (FGFR2) gene and the fibroblast growth factor receptor-1 (FGFR1) gene.

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.].)

Organizations:

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

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