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Apert Syndrome

Important
It is possible that the main title of the report Apert 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.

Synonyms

  • Acrocephalosyndactyly, Type I
  • ACS I
  • Syndactylic Oxycephaly
  • ACS1

Disorder Subdivisions

  • None

General Discussion

Apert syndrome, also known as acrocephalosyndactyly type I (ACS1), is a rare genetic disorder that is apparent at birth (congenital). The disorder is character-ized by distinctive malformations of the head that lead to distinctive facial features. In addition, the hands and/or feet may be webbed (syndactyly) and in some cases, mental retardation may also be present.

Among babies born with Apert syndrome, the fibrous joints between bones of the skull (sutures) close prematurely (craniosynostosis). The pressure of continued brain growth distorts various bones of the skull and the face. The skull is forced into one of several characteristic shapes. Often the head appears abnormally pointed at the top (acrocephaly). The distortion of the skull plates create changes in the facial bones leading to characteristic facial abnormalities, such as widely spaced eyes (ocular hypertelorism), abnormal protrusion of the eyes (exophthalmos), underdevelopment of midfacial regions (midface hypoplasia), and/or a narrow roof of the mouth (palate).

Malformations of the hands and feet may include unusually broad thumbs and great toes, short fingers, and/or partial to complete fusion (syndactyly) of certain fingers and toes (digits). Most commonly, there is complete fusion of bones within the second to the fourth fingers and the presence of a single common nail ("mitten-like" syndactyly).

In almost all instances, Apert syndrome results from new genetic changes (mutations) that appear to occur randomly for unknown reasons (sporadically). In rare cases, the disorder may be inherited as an autosomal dominant trait.

Resources

Children's Craniofacial Association
13140 Coit Road
Suite 517
Dallas, TX 75240
USA
Tel: (214)570-9099
Fax: (214)570-8811
Tel: (800)535-3643
Email: contactCCA@ccakids.com
Internet: http://www.ccakids.com

FACES: The National Craniofacial Association
PO 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

The Arc
1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org

Let's Face It
University of Michigan, School of Dentistry / Dentistry Library
1011 N. University
Ann Arbor, MI 48109-1078
USA
Tel: (360)676-7325
Email: faceit@umich.edu
Internet: http://www.dent.umich.edu/faceit

AmeriFace
P.O. Box 751112
Limekiln, PA 19535
USA
Tel: (702)769-9264
Fax: (702)341-5351
Tel: (888)486-1209
Email: info@ameriface.org
Internet: http://www.ameriface.org

Apert Syndrome Support Group
8708 Kathy
St. Louis, MO 63126
Tel: (314)965-3356
Internet: http://www.dailystrength.org/c/Apert-Syndrome/support-group

American Heart Association
7272 Greenville Avenue
Dallas, TX 75231
Tel: (214)784-7212
Fax: (214)784-1307
Tel: (800)242-8721
Email: Review.personal.info@heart.org
Internet: http://www.heart.org

National Foundation for Facial Reconstruction
333 East 30th Street, Lobby Unit
New York, NY 10016
Tel: (212)263-6656
Fax: (212)263-7534
Internet: http://www.nffr.org

Craniofacial Clinic at University of Virginia
University of Virginia Medical Center
Dept. of Plastic and Maxillofacial Surgery
Box 376
Charlottesville, VA 22908
Tel: (434)924-2528
Email: tjg6f@virginia.edu
Internet: http://www.medicine.virginia.edu/

Danish Apert Syndrome Association (Danmarks Apertforening)
Dronningeengen 17
Vedbaek, DK-2950
Denmark
Tel: 4545890300
Fax: 4545890350
Email: soeren@lildal.com

Craniofacial Foundation of America
975 East Third Street
Chattanooga, TN 37403
Tel: (423)778-9176
Fax: (423)778-8172
Tel: (800)418-3223
Email: terry.smyth@erlanger.org
Internet: http://www.craniofacialfoundation.org

AboutFace International
123 Edward Street, Suite 1003
Toronto
Ontario, M5G 1E2
Canada
Tel: 4165972229
Fax: 4165978494
Tel: 8006653223
Email: info@aboutfaceinternational.org
Internet: http://www.aboutface.ca/

Headlines - Craniofacial Support Group
128 Beesmoor Road
Frampton Cotterell
Bristol, BS36 2JP
United Kingdom
Tel: 01454850557
Email: info@headlines.org.uk
Internet: http://www.headlines.org.uk

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
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.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 orphan@rarediseases.org

Last Updated:  9/23/2007
Copyright  1986, 1988, 1990, 1992, 1994, 1999, 2000, 2006, 2007 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: September 04, 2014
This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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