Thrombocytopenia Absent Radius Syndrome

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)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Thrombocytopenia Absent Radius Syndrome Association
212 Sherwood Drive
RD 1
Linwood, NJ 08221-9745
Tel: (609)927-0418
Email: tarsa@aol.com

American Heart Association
National Center
7272 Greenville Avenue
Dallas, TX 75231-4596
Tel: (214)373-6300
Fax: (214)373-0268
Tel: (800)242-8721
Email: inquire@heart.org
Internet: http://www.americanheart.org

Congenital Heart Anomalies, Support, Education, & Resources
2112 North Wilkins Road
Swanton, OH 43558
Tel: (419)825-5575
Fax: (419)825-2880
Email: chaser@compuserve.com
Internet: http://www.csun.edu/~hcmth011/chaser/chaser-news.html

NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda, MD 20824-0105
Tel: (301)592-8573
Fax: (301)251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov

Reach: The Association for Children with Hand or Arm Deficiency
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

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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