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Other Names for this Disease
- Acrocephalosyndactyly, type 5
- Pfeiffer type acrocephalosyndactyly
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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. Management typically includes various surgical interventions.
- Pfeiffer syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/pfeiffer-syndrome. Accessed May 2, 2011.
- Nathaniel H Robin, Marni J Falk, Chad R Haldeman-Englert. FGFR-Related Craniosynostosis Syndromes. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1455/#craniosynostosis.Management. Accessed July 1, 2011.
On this page
- Genetics Home Reference (GHR) contains information on Pfeiffer syndrome. Click on the link to go to GHR and review the information.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Pfeiffer syndrome. Click on the link to go to OMIM and review these resources.