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

Antley Bixler Syndrome


Synonyms of Antley Bixler Syndrome
  • ABS
  • Craniosynostosis, Choanal Atresia, Radial Humeral Synostosis
  • Multisynostotic Osteodysgenesis with Long Bone Fractures
  • Trapezoidocephaly-Multiple Synostosis Syndrome

Disorder Subdivisions

  • Multisynostotic Osteodysgenesis


General Discussion
Antley-Bixler Syndrome is a rare genetic disorder that is primarily characterized by distinctive malformations of the head and facial (craniofacial) area and additional skeletal abnormalities. For example, the disorder is typically associated with premature closure of the fibrous joints (cranial sutures) between particular bones of the skull (craniosynostosis). Many affected infants and children also may have a prominent forehead, underdeveloped midfacial regions (midfacial hypoplasia), protruding eyes (proptosis), and other craniofacial abnormalities. Additional skeletal malformations are usually present, such as fusion of certain adjacent bones of the arms (e.g., radiohumeral or radioulnar synostosis); long, thin fingers and toes (arachnodactyly); and bowing of the thigh bones. In addition, certain joints may become permanently flexed or extended in fixed postures (joint contractures), resulting in restricted movements.

Antley-Bixler Syndrome often appears to be inherited as an autosomal recessive trait. However, according to researchers, other cases may result from spontaneous (sporadic) genetic changes (mutations) that may be transmitted as an autosomal dominant trait.

Organizations related to Antley Bixler Syndrome
  • 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
  • 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: mums@netnet.net
    Home page: http://www.netnet.net/mums/
  • March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains NY 10605
    Phone #: 914-428-7100
    800 #: 888-663-4637
    e-mail: Askus@marchofdimes.com
    Home page: http://www.marchofdimes.com
  • NIH/National Institute of Child Health & Human Development (Preg & Perinat)
    Pregnancy and Perinatology Branch
    Bethesda MD 20892-7510
    Phone #: 301-496-5575
    800 #: --
    e-mail: BOCKR@mail.nih.gov
    Home page: http://www.nichd.nih.gov



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