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Genetic and Rare Diseases Information Center (GARD)

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Pfeiffer syndrome


Other Names for this Disease

  • Acrocephalosyndactyly, type 5
  • ACS5
  • Pfeiffer type acrocephalosyndactyly
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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.[1] Management typically includes various surgical interventions.[2]
Last updated: 7/25/2014

References

  1. Pfeiffer syndrome. Genetics Home Reference. February 2008; http://ghr.nlm.nih.gov/condition/pfeiffer-syndrome. Accessed 7/25/2014.
  2. Nathaniel H Robin, Marni J Falk, Chad R Haldeman-Englert. FGFR-Related Craniosynostosis Syndromes. GeneReviews. June 7, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1455/#craniosynostosis.Management. Accessed 7/25/2014.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Pfeiffer syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pfeiffer syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Acrocephalosyndactyly, type 5
  • ACS5
  • Pfeiffer type acrocephalosyndactyly
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.