Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Pfeiffer syndrome


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.)

Organizations related to Pfeiffer syndrome
  • FACES: The National Craniofacial Association
    P.O. Box 11082
    Chattanooga TN 37401
    Phone #: 423-266-1632
    800 #: 800-332-2373
    e-mail: faces@faces-cranio.org
    Home page: http://www.faces-cranio.org
  • Headlines - Craniofacial Support
    128 Beesmoor Road
    Bristol Intl BS36 2JP
    Phone #: 44--014-54-850557
    800 #: N/A
    e-mail: info@headlines.org.uk
    Home page: http://www.headlines.org.uk
  • Let's Face It (USA)
    P.O. Box 29972
    Bellingham WA 98228-1972
    Phone #: 360-676-7325
    800 #: --
    e-mail: faceit@umich.edu
    Home page: http://www.dent.umich.edu/faceit
  • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
    150 Custer Court
    Green Bay WI 54301-1243
    Phone #: 920-336-5333
    800 #: 877-336-5333
    e-mail: mums@netnet.net
    Home page: http://www.netnet.net/mums/
  • Madisons Foundation
    PO Box 241956
    Los Angeles CA 90024
    Phone #: 310-264-0826
    800 #: N/A
    e-mail: getinfo@madisonsfoundation.org
    Home page: http://www.madisonsfoundation.org
  • March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains NY 10605
    Phone #: 914-428-7100
    800 #: 888-663-4637
    e-mail: Askus@marchofdimes.com
    Home page: http://www.marchofdimes.com
  • NIH/Nat'l Institute on Deafness & Other Communication Disorders Information Clearinghouse
    1 Communication Ave
    Bethesda MD 20892-3456
    Phone #: 301-402-0900
    800 #: 800-241-1044
    e-mail: nidcdinfo@nidcd.nih.gov
    Home page: http://www.nidcd.nih.gov
  • National Craniofacial Foundation
    3100 Carlisle Street
    Dallas TX 75204
    Phone #: --
    800 #: 800-535-3643
    e-mail: N/A
    Home page: N/A
  • National Hydrocephalus Foundation
    12413 Centralia
    Lakewood CA 90715-1623
    Phone #: 562-924-6666
    800 #: 888-857-3434
    e-mail: nhf@earthlink.net
    Home page: http://www.nhfonline.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html