National Organization for Rare Disorders, Inc.
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 Back to top
- Acrocephalosyndactyly, Type I
- ACS I
- Syndactylic Oxycephaly
Disorder Subdivisions Back to top
General Discussion Back to top
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 Back to top
Children's Craniofacial Association
13140 Coit Road
Dallas, TX 75240
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
1660 L Street, NW, Suite 301
Washington, DC 20036
Let's Face It
School of Dentistry / Dentistry Library
1011 N. University
Concord, MA 01742
Post Office Box 751112
Limekiln, PA 19535
Apert Syndrome Support Group
St. Louis, MO 63126
American Heart Association
8200 Brookriver Drive
Dallas, TX 75247
National Foundation for Facial Reconstruction
333 East 30th Street, Lobby Unit
New York, NY 10016
Craniofacial Clinic at University of Virginia
University of Virginia Medical Center
Dept. of Plastic and Maxillofacial Surgery
Charlottesville, VA 22908
Danish Apert Syndrome Association (Danmarks Apertforening)
Vedbaek, Intl DK-2950
Tel: +45 4589 0300
Fax: +45 4589 0350
Craniofacial Foundation of America
975 East Third Street
Chattanooga, TN 37403
123 Edward Street, Suite 1003
Ontario, M5G 1E2
Tel: (416) 597-2229
Fax: (416) 597-8494
Tel: (800) 665-3223
Headlines - Craniofacial Support Group
128 Beesmoor Road
Bristol, Intl BS36 2JP
Tel: 01454 850557
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
For a Complete Report Back to top
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 email@example.com
Last Updated: 9/23/2007
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