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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 great 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 FGFR1.

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 treatment for Pfeiffer syndrome?

You may find information on treatment or management of Pfeiffer syndrome or some of its symptoms in the links below, particularly the links for Gene Reviews, MedlinePlus Encyclopedia, Educational resources, and Patient support.

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.

  • MedlinePlus - Health information
    • Encyclopedia: Craniosynostosis (http://www.nlm.nih.gov/medlineplus/ency/article/001590.htm)
    • Encyclopedia: Webbing of fingers or toes (http://www.nlm.nih.gov/medlineplus/ency/article/003289.htm)
    • Health Topic: Facial Injuries and Disorders (http://www.nlm.nih.gov/medlineplus/facialinjuriesanddisorders.html)
    • Health Topic: Head and Brain Malformations (http://www.nlm.nih.gov/medlineplus/headandbrainmalformations.html)
  • Additional NIH Resources - National Institutes of Health
    National Institute of Neurological Disorders and Stroke: Craniosynostosis Information Page (http://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm)
  • Educational resources - Information pages
    • Ask the Geneticist: Testing for Pfeiffer syndrome (http://www.genetics.emory.edu/ask/question.php?question_id=2822)
    • Children's Hospital Boston (http://www.childrenshospital.org/az/Site1442/mainpageS1442P0.html)
    • Cincinnati Children's Hospital Medical Center: Craniosynostosis (http://www.cincinnatichildrens.org/health/info/craniofacial/diagnose/craniosynostosis.htm)
    • Collaboration for Craniofacial Development and Disorders, Johns Hopkins University (http://www.hopkinsmedicine.org/craniofacial/Education/DefinedArticle.cfm?MUArticleID=86&Source=Family)
    • Madisons Foundation (http://www.madisonsfoundation.org/index.php/component/option,com_mpower/diseaseID,103/)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=710)
    • The Craniofacial Center, Dallas, Texas (http://www.thecraniofacialcenter.org/pfeiffer.html)
  • Patient support - For patients and families
    • AboutFace USA (http://www.aboutfaceusa.org/)
    • Children's Craniofacial Association (http://www.ccakids.com)
    • Family Village (http://www.familyvillage.wisc.edu/lib_cran.htm)
    • Let's Face It (http://www.dent.umich.edu/faceit/)
    • National Organization for Rare Disorders (NORD) (http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Pfeiffer+syndrome)
    • Resource list from the University of Kansas Medical Center (http://www.kumc.edu/gec/support/craniofa.html)

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

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=craniosynostosis)
  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.genetests.org/query?testid=2760)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/search/condition=%22pfeiffer+syndrome%22+OR+%22craniosynostoses%22+OR+%22acrocephalosyndactylia%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=(pfeiffer+syndrome[TIAB])+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=1800+Days)
  • OMIM - Genetic disorder catalog (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=101600)

What other names do people use for Pfeiffer syndrome?

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

See 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?

  • See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
  • Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
  • Submit your question to Ask the Geneticist (http://www.askthegen.org/).

What glossary definitions help with understanding Pfeiffer syndrome?

autosomal ; autosomal dominant ; brachydactyly ; cell ; craniofacial ; craniosynostosis ; dysplasia ; embryonic ; fibroblast ; gene ; great toe ; hypertelorism ; mutation ; nervous system ; neurological ; ocular proptosis ; proptosis ; protein ; receptor ; symptom ; syndactyly ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://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. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15769677)
  • 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/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=10394936)
  • Harb E, Kran B. Pfeiffer syndrome: systemic and ocular implications. Optometry. 2005 Jul;76(7):352-62. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16038862)
  • Vogels A, Fryns JP. Pfeiffer syndrome. Orphanet J Rare Dis. 2006 Jun 1;1:19. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16740155)
  • 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/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12357470)

 

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: May 11, 2009