Diseases & Conditions


Saethre Chotzen Syndrome

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.

Organizations related to Saethre Chotzen Syndrome
  • AmeriFace
    PO Box 751112
    Las Vegas NV 89136
    Phone #: 702-769-9264
    800 #: 888-486-1209
    e-mail: [email protected]
    Home page: http://www.ameriface.org
  • Children's Craniofacial Association
    13140 Coit Road
    Dallas TX 75240
    Phone #: 214-570-9099
    800 #: 800-535-3643
    e-mail: [email protected]
    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: [email protected]
    Home page: http://www.faces-cranio.org
  • Forward Face, Inc.
    317 East 34th Street
    New York NY 10016
    Phone #: 212-684-5860
    800 #: 800-393-3223
    e-mail: [email protected]
    Home page: http://www.forwardface.org
  • Headlines - Craniofacial Support
    128 Beesmoor Road
    Bristol Intl BS36 2JP
    Phone #: 44--014-54-850557
    800 #: N/A
    e-mail: [email protected]
    Home page: http://www.headlines.org.uk
  • Let's Face It (USA)
    P.O. Box 29972
    Bellingham WA 98228-1972
    Phone #: 360-676-7325
    800 #: --
    e-mail: [email protected]
    Home page: http://www.dent.umich.edu/faceit
  • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
    150 Custer Court
    Green Bay WI 54301-1243
    Phone #: 920-336-5333
    800 #: 877-336-5333
    e-mail: [email protected]
    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: [email protected]
    Home page: http://www.madisonsfoundation.org
  • March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains NY 10605
    Phone #: 914-428-7100
    800 #: 888-663-4637
    e-mail: [email protected]
    Home page: http://www.marchofdimes.com
  • National Craniofacial Foundation
    3100 Carlisle Street
    Dallas TX 75204
    Phone #: --
    800 #: 800-535-3643
    e-mail: N/A
    Home page: N/A
  • Society for the Rehabilitation of the Facially Disfigured, Inc.
    550 First Avenue
    New York NY 10016
    Phone #: 212-340-5400
    800 #: --
    e-mail: N/A
    Home page: N/A
  • The Arc (a national organization on mental retardation)
    1010 Wayne Ave
    Silver Spring MD 20910
    Phone #: 301-565-3842
    800 #: 800-433-5255
    e-mail: [email protected]
    Home page: http://www.thearc.org/

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