Pfeiffer Syndrome Type I

Important
It is possible that the main title of the report Pfeiffer Syndrome Type I 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.

Synonyms

Acrocephalosyndactyly V (ACS5 or ACS V), Subtype I
Acrocephalosyndactyly Type I, Subtype I
Noack Syndrome, Type I
Classic Type Pfeiffer Syndrome

Disorder Subdivisions

None

General Discussion

Pfeiffer Syndrome is a very rare genetic disorder characterized by abnormalities of the head and facial (craniofacial) area, distinctive malformations of the fingers and toes (digits), and/or additional physical abnormalities. This disorder, which is also known as Acrocephalosyndactyly Type V, is generally accepted to be the same disorder as Noack Syndrome (Acrocephalopolysyndactyly Type I). The Acrocephalosyndactyly (ACS) disorders are a group of very rare genetic disorders characterized by premature closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis), causing the top of the head to appear abnormally pointed (acrocephaly), and webbing or fusion of certain fingers and/or toes (syndactyly).

According to the medical literature, researchers have recognized three subtypes of Pfeiffer Syndrome: namely, Pfeiffer Syndrome Types I, II, and III. Major findings that may be associated with all forms of the disorder include premature fusion of certain cranial sutures (craniosynostosis), abnormally broad thumbs and great toes that may bend outward (varus deformity), and syndactyly of certain fingers and toes. The range and severity of associated symptoms and findings may vary greatly from case to case. (For more information on Pfeiffer Syndrome Types II and III, please see the Related Disorders section below.)

In most infants with Type I, or Classic Type Pfeiffer Syndrome, craniosynostosis causes the head to appear short and unusually pointed at the top (turribrachycephaly). Affected infants and children typically have craniofacial abnormalities including an unusually high, full forehead; a flattened middle portion of the face (midface hypoplasia); a small nose with a flattened bridge; widely spaced eyes (ocular hypertelorism); an underdeveloped upper jaw (hypoplastic maxilla), causing the lower jaw to appear unusually prominent (relative mandibular prognathism); and/or dental abnormalities. Individuals with Pfeiffer Syndrome Type I also have digital abnormalities including the malformations mentioned above (i.e., abnormally broad thumbs and great toes that may bend outward [varus deformity] and syndactyly). Intelligence is usually normal.

In some cases, Pfeiffer Syndrome Type I may be due to new genetic changes (mutations) that occur randomly, with no apparent cause (sporadic). In other cases, the disorder may be inherited as an autosomal dominant genetic trait.

Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

FACES: The National Craniofacial Association
P.O. Box 11082
Chattanooga, TN 37401
Tel: (423)266-1632
Fax: (423)267-3124
Tel: (800)332-2373
Email: faces@faces-cranio.org
Internet: http://www.faces-cranio.org

National Hydrocephalus Foundation
12413 Centralia
Lakewood, CA 90715-1623
USA
Tel: 5629246666
Fax: 5629246666
Tel: 8888573434
Email: nhf@earthlink.net
Internet: http://www.nhfonline.org

Let's Face It (USA)
P.O. Box 29972
Bellingham, WA 98228-1972
USA
Tel: 3606767325
Email: faceit@umich.edu
Internet: http://www.dent.umich.edu/faceit

National Craniofacial Foundation
3100 Carlisle Street
Suite 215
Dallas, TX 75204
Tel: (800)535-3643

NIH/Nat'l Institute on Deafness & Other Communication Disorders Information Clearinghouse
1 Communication Ave
Bethesda, MD 20892-3456
Tel: (301)402-0900
Fax: (301)907-8830
Tel: (800)241-1044
TDD: (800)241-1105
Email: nidcdinfo@nidcd.nih.gov
Internet: http://www.nidcd.nih.gov

Headlines - Craniofacial Support
128 Beesmoor Road
Bristol, Intl BS36 2JP
United Kingdom
Tel: 44-01454-850557
Email: info@headlines.org.uk
Internet: http://www.headlines.org.uk

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: 9203365333
Fax: 9203390995
Tel: 8773365333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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

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 orphan@rarediseases.org

Last Updated: 4/14/2008
Copyright 1988, 1989, 1994, 1998, 1999, 2003 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: April 14, 2008

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