Thrombocytopenia Absent Radius Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Thrombocytopenia Absent Radius 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.
Synonyms Back to top
- thrombocytopenia-absent radii syndrome
- TAR syndrome
- radial aplasia-thrombocytopenia syndrome
- radial aplasia-amegakaryocytic thrombocytopenia
Disorder Subdivisions Back to top
- tetraphocomelia-thrombocytopenia syndrome
General Discussion Back to top
Thrombocytopenia-absent radius (TAR) syndrome is a rare disorder that is present at birth (congenital). It is characterized by low levels of platelets in the blood (thrombocytopenia) and absence (aplasia) of the long, thin bones of the forearms (radii). Other abnormalities are often present including additional skeletal defects such as absence or underdevelopment of the other bone of the forearm (ulna), structural malformations of the heart (congenital heart defects), and kidney (renal) defects. Affected individuals may be abnormally short for their age (short stature) and exhibit cow's milk intolerance. TAR syndrome is inherited as an autosomal recessive genetic disorder and caused by deletion and/or mutations in the RBM8A gene.
Resources Back to top
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
American Heart Association
7272 Greenville Avenue
Dallas, TX 75231
NIH/National Heart, Lung and Blood Institute
P.O. Box 30105
Bethesda, MD 20892-0105
P.O. Box 54
Cornwall, TR13 8WD
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
PO Box 241956
Los Angeles, CA 90024
For a Complete Report Back to top
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
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
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email email@example.com
Last Updated: 1/16/2013
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