Important
It is possible that the main title of the report Apert Syndromeis not the name you expected.

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
800: (800)535-3643
csmith@ccakids.com
http://www.ccakids.com

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

The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring
MD
20910
Tel: (301)565-3842
Fax: (301)565-3843
800: (800)433-5255
TDD: (817)277-0553
info@thearc.org
http://www.thearc.org/

Forward Face, Inc.
317 East 34th Street
Room 901
New York
NY
10016
Tel: (212)684-5860
Fax: (212)684-5864
800: (800)393-3223
info@forwardface.org
http://www.forwardface.org

Let's Face It (USA)
P.O. Box 29972
Bellingham
WA
98228-1972
USA
Tel: (360)676-7325
faceit@umich.edu
http://www.dent.umich.edu/faceit

AmeriFace
PO Box 751112
Las Vegas
NV
89136
USA
Tel: (702)769-9264
Fax: (702)341-5351
800: (888)486-1209
info@ameriface.org
http://www.ameriface.org

Apert Syndrome Support Group
8708 Kathy
St. Louis
MO
63126
Tel: (314)965-3356National Foundation for Facial Reconstruction
317 East 34th St.
#901
New York
NY
10016
Tel: (212)263-6656
Fax: (212)263-7534
800: (800)422-3223
whitney@nffr.org
http://www.nffr.org

American Heart Association
National Center
7272 Greenville Avenue
Dallas
TX
75231-4596
Tel: (214)373-6300
Fax: (214)373-0268
800: (800)242-8721
inquire@heart.org
http://www.americanheart.org

Congenital Heart Anomalies, Support, Education, & Resources
2112 North Wilkins Road
Swanton
OH
43558
Tel: (419)825-5575
Fax: (419)825-2880
chaser@compuserve.com
http://www.csun.edu/~hcmth011/chaser/chaser-news.html

National Craniofacial Foundation
3100 Carlisle Street
Suite 215
Dallas
TX
75204
800: (800)535-3643University of Virginia Craniofacial Anomalies Clinic
Department of Plastic Surgery
Box 800376
Charlottesville
VA
22908
Tel: (804)924-5068
Fax: (804)924-1333
800: (800)251-3627
tjg6f@virginia.eduDanish Apert Syndrome Association (Danmarks Apertforening)
Dronningeengen 17
Vedbaek
Intl
DK-2950
Denmark
Tel: +45 4589 0300
Fax: +45 4589 0350
soeren@lildal.comCraniofacial Foundation of America
975 East Third Street
Chattanooga
TN
37403
Tel: (423)778-9192
Fax: (423)778-8172
800: (800)418-3223
farmertm@erlanger.org
http://www.craniofacialcenter.com

Apert Support and Information Network
P.O. Box 1184
Fair Oaks
CA
95628
Tel: (916)961-1092
Fax: (916)961-1092
apertnet@ix.netcom.com
http://www.apert.org

AboutFace International
123 Edward St
Suite 1003
Toronto
Ontario
M5G 1E2
Canada
Tel: 4165972229
Fax: 4165978494
800: 8006653223
info@aboutfaceinternational.org
http://www.aboutfaceinternational.org

Headlines - Craniofacial Support
128 Beesmoor Road
Bristol
Intl
BS36 2JP
United Kingdom
Tel: 44-01454-850557
info@headlines.org.uk
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: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/

Sjældne Diagnoser / Rare Disorders Denmark
Frederiksholms Kanal 2, 3rd Floor
Copenhagen K
1220
Denmark
Tel: 45 33 14 00 10
Fax: 45 33 14 55 09
mail@sjaeldnediagnoser
http://www.raredisorders.dk