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.
- acrocephalosyndactyly type III
- acrocephaly, skull asymmetry, and mild syndactyly
- ACS type III
- Chotzen syndrome
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
Dallas, TX 75240
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
1825 K Street NW, Suite 1200
Washington, DC 20006
Let's Face It
University of Michigan, School of Dentistry / Dentistry Library
1011 N. University
Ann Arbor, MI 48109-1078
P.O. Box 751112
Limekiln, PA 19535
National Foundation for Facial Reconstruction
333 East 30th Street, Lobby Unit
New York, NY 10016
Headlines - Craniofacial Support Group
128 Beesmoor Road
Bristol, BS36 2JP
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Cleft Lip and Palate Foundation of Smiles
2044 Michael Ave SW
Wyoming, MI 49509
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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
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Last Updated: 7/9/2012
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