TAR syndrome

TAR Syndrome

Thrombocytopenia Absent Radius (TAR) syndrome (pronounced: throm-bo-cy-to-pe-nia ab-sent ra-di-us) is a rare genetic disorder that primarily affects the bone marrow, blood, and skeletal system.

Etymology

The term "Thrombocytopenia Absent Radius" is derived from the three main characteristics of the condition. "Thrombocytopenia" (pronounced: throm-bo-cy-to-pe-nia) refers to a low platelet count, "Absent" indicates the missing part, and "Radius" (pronounced: ra-di-us) is the name of the bone in the forearm that is typically absent or underdeveloped in individuals with this condition.

Definition

TAR syndrome is characterized by the absence of the radius bone in the forearm and a significantly reduced platelet count. This leads to increased bleeding and bruising in affected individuals. Other physical abnormalities, such as underdeveloped thumbs or other bone abnormalities, may also be present.

Symptoms

The most common symptoms of TAR syndrome include:

• Absence or underdevelopment of the radius bone
• Low platelet count, leading to increased bleeding and bruising
• Underdeveloped thumbs
• Other bone abnormalities

Causes

TAR syndrome is caused by a mutation in the RB1 gene. This gene is responsible for the production of a protein that helps control cell growth and division. When this gene is mutated, it can lead to the development of TAR syndrome.

Treatment

Treatment for TAR syndrome typically involves managing the symptoms of the condition. This can include blood transfusions to increase platelet count, surgery to correct bone abnormalities, and physical therapy to improve mobility and function.

Related Terms

• Thrombocytopenia
• Radius (bone)
• RB1 gene
• Blood transfusion
• Surgery
• Physical therapy

External links

• Medical encyclopedia article on TAR syndrome
• Wikipedia's article - TAR syndrome

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