National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Pfeiffer Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- acrocephalosyndactyly, type V
- craniofacial-skeletal-dermatologic syndrome
- Noack syndrome
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 differences to their midface (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 genes fibroblast growth factor receptor-2 (FGFR2) and fibroblast growth factor receptor-1 (FGFR1).
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.)
Cleft Lip and Palate Foundation of Smiles
- 2044 Michael Ave SW
- Wyoming, MI 49509
- Tel: (616)329-1335
- Email: Rachelmancuso09@comcast.net
- Website: http://www.cleftsmile.org
FACES: The National Craniofacial Association
- PO Box 11082
- Chattanooga, TN 37401
- Tel: (423)266-1632
- Fax: (423)267-3124
- Tel: (800)332-2373
- Email: email@example.com
- Website: http://www.faces-cranio.org
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
Headlines - Craniofacial Support Group
- 128 Beesmoor Road
- Frampton Cotterell
- Bristol, BS36 2JP
- United Kingdom
- Tel: 1454850557
- Email: firstname.lastname@example.org
- Website: http://www.headlines.org.uk
Let's Face It
- University of Michigan, School of Dentistry / Dentistry Library
- 1011 N. University
- Ann Arbor, MI 48109-1078
- Tel: (360)676-7325
- Email: email@example.com
- Website: http://dent.umich.edu/
March of Dimes Birth Defects Foundation
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- Tel: (914)997-4488
- Fax: (914)997-4763
- Website: http://www.marchofdimes.com
NIH/National Institute on Deafness and Other Communication Disorders
- 31 Center Drive, MSC 2320
- Communication Avenue
- Bethesda, MD 20892-3456
- Tel: (301)402-0900
- Fax: (301)907-8830
- Tel: (800)241-1044
- Email: firstname.lastname@example.org
- Website: http://www.nidcd.nih.gov
National Hydrocephalus Foundation
- 12413 Centralia Rd.
- Lakewood, CA 90715-1653
- Tel: (562)924-6666
- Fax: (562)924-6666
- Tel: (888)857-3434
- Email: email@example.com
- Website: http://www.nhfonline.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 1/11/1970
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