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Copyright 1987, 1990, 1992, 1995, 2000, 2003
NORD is very grateful to Gareth Baynam, MBBS, PhD, Clinical Geneticist, King Edward Memorial Hospital, Australia, for assistance in the preparation of this report.
Synonyms of Saethre Chotzen Syndrome
- Acrocephalosyndactyly Type III
- Acrocephaly, Skull Asymmetry, and Mild Syndactyly
- ACS3
- ACS Type III
- Chotzen Syndrome
- SCS
Disorder Subdivisions
- Acrocephaly, Skull Asymmetry, and Mild Retardation
General Discussion
Saethre-Chotzen syndrome belongs to a group of rare genetic disorders known as "acrocephalosyndactyly" disorders. All are 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 pointed (acrocephaly), and/or webbing or fusion (syndactyly) of certain fingers or toes (digits). Saethre-Chotzen syndrome is also known as acrocephalosyndactyly type III.
In many infants with Saethre-Chotzen syndrome, cranial sutures may fuse unevenly, causing the head and face to appear somewhat dissimilar from one side to the other (craniofacial asymmetry). Additional malformations of the skull and facial (craniofacial) region may also be present, such as widely spaced eyes (ocular hypertelorism) with unusually shallow eye cavities (orbits); drooping of the upper eyelids (ptosis); and abnormal deviation of one eye in relation to the other (strabismus). Some affected individuals may also have a "beaked" nose; deviation of the partition that separates the nostrils (deviated nasal septum); small, low-set, malformed ears; and an underdeveloped upper jaw (hypoplastic maxilla). The disorder is also associated with malformations of the hands and feet, such as partial fusion of soft tissues (cutaneous syndactyly) of certain fingers and toes (digits); unusually short digits (brachydactyly); and broad great toes. Although intelligence is usually normal, some affected individuals may have mild to moderate mental retardation. Saethre-Chotzen syndrome is usually inherited as an autosomal dominant trait.
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Organizations related to Saethre Chotzen Syndrome
- 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
- Arc
1660 L Street, NW, Suite 301
Washington DC 20036
Phone #: 202-534-3700
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
- 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: info@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: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- 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 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
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- National Foundation for Facial Reconstruction
317 East 34th Street
Room 901
New York NY 10016
Phone #: 212-263-6656
800 #: --
e-mail: N/A
Home page: http://www.nffr.org
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