Tar Syndrome - Symptoms, Reasons And Treatment

Tar syndrome, also known as Thrombocytopenia with Absent Radii, is a rare genetic disorder that affects blood clotting and bone development. This condition is caused by a mutation in a specific gene, leading to abnormalities in platelet formation and bone growth.

People with Tar syndrome may experience various health challenges but can lead fulfilling lives with proper management.

Symptoms of Tar Syndrome

Individuals with TAR syndrome may experience symptoms such as low platelet count leading to easy bruising and bleeding, particularly in the first year of life. They may also have abnormal or absent thumbs, as well as other limb abnormalities.

Some individuals may have additional health issues related to their heart, kidneys, or other organs. Regular medical monitoring is essential for managing TAR syndrome.

Swelling of the hands and feet, making them appear larger than usual.
Limited movement in the joints, causing stiffness and difficulty in bending the limbs.
Unusual skin pigmentation, with patches of dark or light spots on the skin.
Short stature, where individuals with TAR syndrome may be shorter than average for their age.
Delayed or absent development of the thumbs, leading to unique hand abnormalities.

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Causes of Tar Syndrome

The condition is caused by mutations in the RBM8A or RBM8A-associated genes. This results in abnormal development of the limbs and blood cells, leading to the unique features and complications associated with tar syndrome.

Genetic mutations in the RBM8A gene are a known cause of TAR syndrome, leading to abnormal development of blood cells in affected individuals.
Environmental factors, such as exposure to certain toxins or chemicals during pregnancy, have been suggested as potential triggers for TAR syndrome in some cases.
Inheritance of the mutated gene from one or both parents can also contribute to the development of TAR syndrome in children, with a higher likelihood of occurrence in families with a history of the condition.
Disruptions in the normal process of bone marrow formation and function can result in TAR syndrome, affecting the production of essential blood cells like platelets and red blood cells.

Types of Tar Syndrome

There are two types of TAR syndrome, classic and atypical. Classic TAR syndrome includes low levels of platelets and absence of the radius bone in the forearm. Atypical TAR syndrome involves additional symptoms such as heart defects or abnormal development of other bones.

Both types can vary in severity and impact the individual's health and daily life differently.

Thrombocytopenia-absent radius (TAR) syndrome is a rare genetic disorder characterized by low platelet counts and the absence of the radius bone in the forearm.
Atypical TAR syndrome may present with additional features beyond the classic symptoms, such as heart defects, kidney abnormalities, or skeletal anomalies.
Mild TAR syndrome cases may manifest with only minor physical abnormalities and normal blood counts, making diagnosis challenging without genetic testing.
Neonatal-onset TAR syndrome is the most severe form, often leading to life-threatening bleeding episodes in infancy due to the profound platelet deficiency.

Risk Factors

Risk factors for TAR syndrome include genetics, as it is a genetic disorder passed down through families. Additionally, there may be a higher risk for individuals with a family history of the condition.

The syndrome is rare, affecting both males and females. It is essential to consult with a healthcare provider for a proper diagnosis and management plan.

Genetic predisposition plays a significant role in increasing the risk of developing TAR syndrome.
Maternal exposure to certain medications or toxins during pregnancy can be a risk factor for TAR syndrome in the unborn child.
Infections during pregnancy, such as rubella or cytomegalovirus, may elevate the risk of TAR syndrome in the fetus.
Consanguineous marriages, especially between close relatives, can raise the likelihood of TAR syndrome due to a higher chance of inheriting genetic mutations.
Advanced maternal age at the time of conception has been associated with an increased risk of TAR syndrome in offspring.

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Diagnosis of Tar Syndrome

To diagnose TAR syndrome, doctors will perform a physical examination, blood tests, and a bone marrow biopsy to assess platelet levels and bone marrow function. Genetic testing may also be conducted to confirm the diagnosis.

It is important to consult a healthcare professional if you suspect TAR syndrome to receive proper evaluation and management.

Physical Examination: A healthcare provider may conduct a thorough physical examination to look for characteristic physical features associated with TAR syndrome, such as abnormalities in the arms and platelet issues.
Blood Tests: Blood tests, including a complete blood count (CBC) and genetic testing, may be performed to assess platelet levels and confirm the genetic mutation responsible for TAR syndrome.
Bone Marrow Aspiration: A bone marrow aspiration can help evaluate the bone marrow's ability to produce blood cells and confirm the presence of reduced or absent platelets, a common feature of TAR syndrome.
Imaging Studies: X-rays or other imaging studies may be recommended to assess skeletal abnormalities, such as the absence of radius bones in the arms.

Treatment for Tar Syndrome

Treatment for TAR syndrome focuses on managing symptoms and complications. This may include blood transfusions to increase platelet levels, physical therapy to improve mobility, and surgery to correct limb abnormalities.

Regular medical monitoring is essential to ensure optimal health and early intervention for any issues that may arise. Your healthcare team will work with you to create a personalized treatment plan based on your specific needs.

Hormone replacement therapy may be considered to address hormonal imbalances commonly seen in individuals with TAR syndrome, helping to regulate growth and development.
Regular monitoring and management of thrombocytopenia through platelet transfusions or medications may be necessary to prevent bleeding complications in patients with TAR syndrome.
Physical therapy can play a crucial role in improving muscle strength, coordination, and overall mobility in individuals with TAR syndrome, helping them achieve better functional abilities.
Surgical interventions such as limb lengthening procedures or orthopedic corrections may be recommended to address skeletal abnormalities and improve the quality of life for individuals with TAR syndrome.

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Frequently Asked Questions

What early signs should I look for with tar syndrome?

Early signs of TAR syndrome may include low platelet count, hand and arm abnormalities at birth, delayed growth, and easy bruising or bleeding.

What lifestyle changes should I make to manage tar syndrome effectively?

To manage TAR syndrome, focus on regular medical check-ups, a healthy diet rich in iron and vitamins, appropriate exercise, and avoiding activities that may cause injury.

What serious complications could arise from tar syndrome?

Serious complications of TAR syndrome include bleeding disorders, skeletal abnormalities, and heart defects that may require medical intervention.

How is tar syndrome typically managed?

Tar syndrome is managed through supportive care to address symptoms such as anemia, thrombocytopenia, and immune deficiency. Stem cell transplant may be considered.