Thrombocytopenia absent radius syndrome
Thrombocytopenia Absent Radius Syndrome (TAR Syndrome) is a rare genetic disorder characterized by the absence of the radius bone in the forearm and a significantly reduced platelet count. This condition is present from birth and affects approximately 1 in 100,000 newborns worldwide.
Symptoms and Characteristics[edit | edit source]
The primary characteristics of TAR Syndrome are the absence of the radius bone in the forearm and a low platelet count, known as thrombocytopenia. The absence of the radius bone can lead to various physical abnormalities, such as a short stature and difficulty in arm movement. Thrombocytopenia can result in easy bruising, prolonged bleeding, and an increased risk of hemorrhage.
Other symptoms may include heart defects, kidney abnormalities, and skeletal malformations. Cognitive development is typically normal, although some individuals may have learning disabilities.
Causes[edit | edit source]
TAR Syndrome is caused by a complex genetic mutation. It is typically inherited in an autosomal recessive manner, meaning both parents must carry a copy of the mutated gene for the child to be affected. The specific genes involved are RBM8A and a noncoding RNA region on chromosome 1.
Diagnosis[edit | edit source]
Diagnosis of TAR Syndrome is typically made based on physical characteristics and a complete blood count (CBC) test to confirm thrombocytopenia. Genetic testing can confirm the diagnosis.
Treatment[edit | edit source]
Treatment for TAR Syndrome is symptomatic and supportive. This may include platelet transfusions, surgeries to correct bone abnormalities, and therapies to improve mobility. Regular monitoring of the heart and kidneys is also important.
Prognosis[edit | edit source]
The prognosis for individuals with TAR Syndrome varies. With appropriate treatment and management, many individuals can lead normal lives. However, complications such as severe bleeding or heart defects can be life-threatening.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Thrombocytopenia absent radius syndrome is a rare disease.
| Thrombocytopenia absent radius syndrome Resources | |
|---|---|
|
 |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
