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"Resources" on this report.
Copyright 1986, 1988, 1990, 1992, 1994, 1999, 2000, 2006, 2007
Synonyms of Apert Syndrome
- Acrocephalosyndactyly, Type I
- ACS1
- ACS I
- Syndactylic Oxycephaly
Disorder Subdivisions
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.
Organizations related to Apert Syndrome
- AboutFace International
123 Edward Street, Suite 1003
Toronto
Ontario None M5G 1E2
Phone #: 416-597-2229
800 #: 800-665-3223
e-mail: info@aboutfaceinternational.org
Home page: http://www.aboutfaceinternational.org
- AmeriFace
PO Box 751112
Las Vegas NV 89136
Phone #: 702-769-9264
800 #: 888-486-1209
e-mail: info@ameriface.org
Home page: http://www.ameriface.org
- American Heart Association
7272 Greenville Avenue
Dallas TX 75231-4596
Phone #: 214-373-6300
800 #: 800-242-8721
e-mail: Review.personal.info@heart.org
Home page: http://www.americanheart.org
- Apert Support and Information Network
P.O. Box 1184
Fair Oaks CA 95628
Phone #: 916-961-1092
800 #: --
e-mail: apertnet@ix.netcom.com
Home page: http://www.apert.org
- Apert Syndrome Support Group
8708 Kathy
St. Louis MO 63126
Phone #: 314-965-3356
800 #: --
e-mail: N/A
Home page: N/A
- Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
- Children's Craniofacial Association
13140 Coit Road
Suite 517
Dallas TX 75240
Phone #: 214-570-9099
800 #: 800-535-3643
e-mail: contactCCA@ccakids.com
Home page: http://www.ccakids.com
- Congenital Heart Anomalies, Support, Education, & Resources, Inc. (CHASER, Inc.)
2112 North Wilkins Road
Swanton OH 43558
Phone #: 419-825-5575
800 #: --
e-mail: myer106w@wonder.em.cdc.gov
Home page: http://www.csun.edu/~hcmth011/chaser/chaser-news.html
- Craniofacial Foundation of America
975 East Third Street
Chattanooga TN 37403
Phone #: 423-778-9176
800 #: 800-418-3223
e-mail: info@craniofacialfoundation.org
Home page: http://www.craniofacialfoundation.org/www
- Danish Apert Syndrome Association (Danmarks Apertforening)
Dronningeengen 17
Vedbaek Intl DK-2950
Phone #: +45- 45-89 0300
800 #: --
e-mail: soeren@lildal.com
Home page: N/A
- 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
- Forward Face, Inc.
317 East 34th Street
Suite 901A
New York NY 10016
Phone #: 212-684-5860
800 #: 800-393-3223
e-mail: camille@forwardface.org
Home page: http://www.forwardface.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- Headlines - Craniofacial Support Group
128 Beesmoor Road
Frampton Cotterell
Bristol Intl BS36 2JP
Phone #: 014-54 -850557
800 #: N/A
e-mail: info@headlines.org.uk
Home page: 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
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
- Sjældne Diagnoser / Rare Disorders Denmark
Frederiksholms Kanal 2, 3rd Floor
Copenhagen K None 1220
Phone #: 45 -33 -14 00 10
800 #: N/A
e-mail: mail@sjaeldnediagnoser
Home page: http://www.raredisorders.dk
- Transposition of the Great Arteries
317 East 34th St.
#901
New York NY 10016
Phone #: 212-263-6656
800 #: 800-422-3223
e-mail: whitney@nffr.org
Home page: http://www.nffr.org
- University of Virginia Craniofacial Anomalies Clinic
Department of Plastic Surgery
Box 800376
Charlottesville VA 22908
Phone #: 804-924-5068
800 #: 800-251-3627
e-mail: tjg6f@virginia.edu
Home page: N/A
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