Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Summitt Syndrome


Synonyms of Summitt Syndrome
  • Summitt's Acrocephalosyndactyly

Disorder Subdivisions



    General Discussion
    Summitt syndrome is an extremely rare genetic disorder characterized by malformations of the head, abnormalities of the hands and/or feet, and obesity. The syndrome is inherited as an autosomal recessive genetic trait. Some researchers believe that Summitt syndrome is one of seven closely related forms of a disorder characterized by characteristic malformations of the head and webbing between several toes and/or fingers (acrocephalopolysyndactyly). The malformations of the head are the result of the premature closings of the seams (cranial sutures) between the bony plates that make up the skull. Of the various forms of this disorder, many geneticists believe that Summitt syndrome is closely related to Carpenter syndrome (acrocephalopolysyndactyly type II).

    Organizations related to Summitt Syndrome
    • AmeriFace
      PO Box 751112
      Las Vegas NV 89136
      Phone #: 702-769-9264
      800 #: 888-486-1209
      e-mail: info@ameriface.org
      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: csmith@ccakids.com
      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: faces@faces-cranio.org
      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: info@forwardface.org
      Home page: http://www.forwardface.org
    • Let's Face It (USA)
      P.O. Box 29972
      Bellingham WA 98228-1972
      Phone #: 360-676-7325
      800 #: --
      e-mail: faceit@umich.edu
      Home page: http://www.dent.umich.edu/faceit
    • National Craniofacial Foundation
      3100 Carlisle Street
      Dallas TX 75204
      Phone #: --
      800 #: 800-535-3643
      e-mail: N/A
      Home page: N/A
    • National Foundation for Facial Reconstruction
      317 East 34th St.
      New York NY 10016
      Phone #: 212-263-6656
      800 #: 800-422-3223
      e-mail: whitney@nffr.org
      Home page: http://www.nffr.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