Saethre Chotzen Syndrome

National Organization for Rare Disorders, Inc.

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.


  • ACS3
  • SCS
  • acrocephalosyndactyly type III
  • acrocephaly, skull asymmetry, and mild syndactyly
  • ACS type III
  • Chotzen syndrome

Disorder Subdivisions

  • None

General Discussion

Saethre Chotzen syndrome (SCS) belongs to a group of rare genetic disorders known as "acrocephalosyndactyly" disorders. All of these are characterized by premature closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis), and/or webbing or fusion (syndactyly) of certain fingers or toes (digits).

In many infants with SCS, cranial sutures may fuse unevenly and this may contribute to the head and face appearing to be dissimilar from one side to the other (craniofacial asymmetry). Additional variations 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 a state where the eyes do not point in the same direction (strabismus). Some affected individuals may also have a "beaked" nose; deviation of the partition that separates the nostrils (deviated nasal septum); small, low-set ears; and an underdeveloped upper jaw (hypoplastic maxilla). The disorder is also associated with variations 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. Intelligence is usually normal. SCS is inherited in an autosomal dominant manner.


Children's Craniofacial Association
13140 Coit Road
Suite 517
Dallas, TX 75240
Tel: (214)570-9099
Fax: (214)570-8811
Tel: (800)535-3643

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763

FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Tel: (423)266-1632
Fax: (423)267-3124
Tel: (800)332-2373

The Arc
1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
TDD: (817)277-0553

Let's Face It
University of Michigan, School of Dentistry / Dentistry Library
1011 N. University
Ann Arbor, MI 48109-1078
Tel: (360)676-7325

PO Box 751112
Las Vegas, NV 89136
Tel: (702)769-9264
Fax: (702)341-5351
Tel: (888)486-1209

333 East 30th Street, Lobby Unit
New York, NY 10016
Tel: (212)263-6656
Fax: (212)263-7534

Headlines - Craniofacial Support Group
128 Beesmoor Road
Frampton Cotterell
Bristol, BS36 2JP
United Kingdom
Tel: 01454850557

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

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766

Cleft Lip and Palate Foundation of Smiles
2044 Michael Ave SW
Wyoming, MI 49509
Tel: (616)329-1335

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to and click on Rare Disease Database under "Rare Disease Information".

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 or email

Last Updated:  7/9/2012
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