Thrombocytopenia Absent Radius Syndrome

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Thrombocytopenia Absent Radius Syndrome

National Organization for Rare Disorders, Inc.

Important
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

  • Radial Aplasia-Amegakaryocytic Thrombocytopenia
  • Radial Aplasia-Thrombocytopenia Syndrome
  • TAR Syndrome
  • Thrombocytopenia-Absent Radii Syndrome

Disorder Subdivisions

  • Tetraphocomelia-Thrombocytopenia Syndrome

General Discussion

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 common abnormalities are often present including additional skeletal defects such as absence or underdevelopment of the other bones of the forearm (ulnae), structural malformations of the heart (congenital heart defects), kidney (renal) defects. Affected individuals may be abnormally short for their age (short stature) and exhibit cow's milk intolerance. TAR syndrome is believed to be inherited as an autosomal recessive trait. However, evidence suggests that inheritance in TAR syndrome may be more complex than simple recessive inheritance in some cases.

Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

American Heart Association
8200 Brookriver Drive
Suite N-100
Dallas, TX 75247
Tel: (214)784-7212
Fax: (214)784-1307
Tel: (800)242-8721
Email: Review.personal.info@heart.org
Internet: http://www.americanheart.org

NIH/National Heart, Lung and Blood Institute
P.O. Box 30105
Bethesda, MD 20892-0105
Tel: (301)592-8573
Fax: (301)251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov
Internet: http://www.nhlbi.nih.gov/

Reach
P.O. Box 54
Helston
Cornwall, Intl TR13 8WD
United Kingdom
Tel: 0845 1306225
Fax: 0845 1300262
Email: reach@reach.org.uk
Internet: http://www.reach.org.uk

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Internet: http://rarediseases.info.nih.gov/GARD

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.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

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 orphan@rarediseases.org

Last Updated:  7/8/2007
Copyright  1989, 1998, 2000, 2002, 2007 National Organization for Rare Disorders, Inc.

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