Saethre Chotzen Syndrome

Important
It is possible that the main title of the report Saethre Chotzen 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 III
ACS Type III
Chotzen Syndrome
ACS3
SCS
Acrocephaly, Skull Asymmetry, and Mild Syndactyly

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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Resources

Children's Craniofacial Association
13140 Coit Road
Suite 307
Dallas, TX 75240
USA
Tel: 2145709099
Fax: 2145708811
Tel: 8005353643
Email: csmith@ccakids.com
Internet: http://www.ccakids.com

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

FACES: The National Craniofacial Association
P.O. 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 (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: 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
Tel: (800)393-3223
Email: info@forwardface.org
Internet: http://www.forwardface.org

Let's Face It (USA)
P.O. Box 29972
Bellingham, WA 98228-1972
USA
Tel: 3606767325
Email: faceit@umich.edu
Internet: http://www.dent.umich.edu/faceit

AboutFace USA
PO Box 158
South Beloit, IL 61080
USA
Tel: 8884861209
Email: info@AboutFaceUSA.org
Internet: http://www.aboutfaceusa.org

National Craniofacial Foundation
3100 Carlisle Street
Suite 215
Dallas, TX 75204
Tel: (800)535-3643

Society for the Rehabilitation of the Facially Disfigured, Inc.
550 First Avenue
New York, NY 10016
Tel: (212)340-5400

Headlines - Craniofacial Support
128 Beesmoor Road
Bristol, Intl BS36 2JP
United Kingdom
Tel: 44-01454-850557
Email: info@headlines.org.uk
Internet: http://www.headlines.org.uk

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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: 5/13/2003
Copyright 1987, 1990, 1992, 1995, 2000, 2003 National Organization for Rare Disorders, Inc.

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