Antley Bixler Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Antley Bixler 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.
- Craniosynostosis, Choanal Atresia, Radial Humeral Synostosis
- Trapezoidocephaly-Multiple Synostosis Syndrome
- Multisynostotic Osteodysgenesis with Long Bone Fractures
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.
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
P. O. Box 11082
Chattanooga, TN 37401
NIH/National Institute of Child Health & Human Development (Preg & Perinat)
Pregnancy and Perinatology Branch
6100 Executive Blvd Rm 4B03
Bethesda, MD 20892-7510
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
For a Complete Report
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