Saethre Chotzen Syndrome

National Organization for Rare Disorders, Inc.

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 517
Dallas, TX 75240
USA
Tel: (214)570-9099
Fax: (214)570-8811
Tel: (800)535-3643
Email: contactCCA@ccakids.com
Internet: http://www.ccakids.com

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
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

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
Suite 901A
New York, NY 10016
Tel: (212)684-5860
Fax: (212)684-5864
Tel: (800)393-3223
Email: camille@forwardface.org
Internet: http://www.forwardface.org

Let's Face It
University of Michigan
School of Dentistry / Dentistry Library
1011 N. University
Ann Arbor, MI 48109-1078
USA
Tel: (360)676-7325
Email: faceit@umich.edu
Internet: http://www.dent.umich.edu/faceit

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

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

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

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

For a Complete Report

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

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