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]
Template:Genetic disorder Template:Rare diseases Template:Congenital disorders
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