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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

Pfeiffer syndrome

Reviewed February 2008

What is Pfeiffer syndrome?

Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet.

Many of the characteristic facial features of Pfeiffer syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose. More than half of all children with Pfeiffer syndrome have hearing loss; dental problems are also common.

In people with Pfeiffer syndrome, the thumbs and first (big) toes are wide and bend away from the other digits. Unusually short fingers and toes (brachydactyly) are also common, and there may be some webbing or fusion between the digits (syndactyly).

Pfeiffer syndrome is divided into three subtypes. Type 1, also known as classic Pfeiffer syndrome, has symptoms as described above. Most individuals with type 1 Pfeiffer syndrome have normal intelligence and a normal life span. Types 2 and 3 are more severe forms of Pfeiffer syndrome that often involve problems with the nervous system. The premature fusion of skull bones can limit brain growth, leading to delayed development and other neurological problems. Type 2 is distinguished from type 3 by the presence of a cloverleaf-shaped head, which is caused by more extensive fusion of bones in the skull.

How common is Pfeiffer syndrome?

Pfeiffer syndrome affects about 1 in 100,000 individuals.

What genes are related to Pfeiffer syndrome?

Pfeiffer syndrome results from mutations in the FGFR1 or FGFR2 gene. These genes provide instructions for making proteins known as fibroblast growth receptors 1 and 2. Among their multiple functions, these proteins signal immature cells to become bone cells during embryonic development. A mutation in either the FGFR1 or FGFR2 gene alters protein function and causes prolonged signaling, which can promote the premature fusion of skull bones and affect the development of bones in the hands and feet.

Type 1 Pfeiffer syndrome is caused by mutations in either the FGFR1 or FGFR2 gene. Types 2 and 3 are caused by mutations in the FGFR2 gene, and have not been associated with changes in the FGFR1 gene.

Related Gene(s)

Changes in these genes are associated with Pfeiffer syndrome.

  • FGFR1
  • FGFR2

How do people inherit Pfeiffer syndrome?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Where can I find information about diagnosis or management of Pfeiffer syndrome?

These resources address the diagnosis or management of Pfeiffer syndrome and may include treatment providers.

  • Gene Review: FGFR-Related Craniosynostosis (http://www.ncbi.nlm.nih.gov/books/NBK1455/)
  • Genetic Testing Registry: Pfeiffer syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1863356)
  • MedlinePlus Encyclopedia: Craniosynostosis (http://www.nlm.nih.gov/medlineplus/ency/article/001590.htm)
  • MedlinePlus Encyclopedia: Webbing of fingers or toes (http://www.nlm.nih.gov/medlineplus/ency/article/003289.htm)

You might also find information on the diagnosis or management of Pfeiffer syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/pfeiffer-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/pfeiffer-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Pfeiffer syndrome?

You may find the following resources about Pfeiffer syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Pfeiffer syndrome?

  • acrocephalosyndactyly, type V
  • ACS5
  • ACS V
  • Craniofacial-skeletal-dermatologic dysplasia
  • Noack syndrome

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Pfeiffer syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Pfeiffer syndrome?

autosomal ; autosomal dominant ; brachydactyly ; cell ; craniofacial ; craniosynostosis ; dysplasia ; embryonic ; fibroblast ; gene ; hypertelorism ; inherited ; mutation ; nervous system ; neurological ; ocular proptosis ; proptosis ; protein ; syndactyly ; syndrome ; upper jaw

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Chen L, Deng CX. Roles of FGF signaling in skeletal development and human genetic diseases. Front Biosci. 2005 May 1;10:1961-76. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15769677?dopt=Abstract)
  • Cornejo-Roldan LR, Roessler E, Muenke M. Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. Hum Genet. 1999 May;104(5):425-31. (http://www.ncbi.nlm.nih.gov/pubmed/10394936?dopt=Abstract)
  • Harb E, Kran B. Pfeiffer syndrome: systemic and ocular implications. Optometry. 2005 Jul;76(7):352-62. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16038862?dopt=Abstract)
  • Vogels A, Fryns JP. Pfeiffer syndrome. Orphanet J Rare Dis. 2006 Jun 1;1:19. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16740155?dopt=Abstract)
  • Wilkie AO, Patey SJ, Kan SH, van den Ouweland AM, Hamel BC. FGFs, their receptors, and human limb malformations: clinical and molecular correlations. Am J Med Genet. 2002 Oct 15;112(3):266-78. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12357470?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2008
Published: July 21, 2014