Thrombocytopenia-Absent Radius (TAR) Syndrome
Description
Thrombocytopenia-Absent Radius (TAR) syndrome is a rare congenital disorder characterized by the absence of the radius bone in the forearm and a low platelet count. This comprehensive guide provides information about TAR syndrome, including its causes, symptoms, diagnosis, management, and strategies for thriving.
Genes Involved
TAR syndrome is primarily caused by mutations in the RBM8A gene, located on chromosome 1. This gene plays a crucial role in the development of blood cells and bone formation.
Recognizing the Signs and Symptoms
Individuals with TAR syndrome may experience a range of symptoms, including:
- Absent radius: This results in a shortened forearm and hand, with the hand often turning inward (radial deviation).
- Thrombocytopenia: A low platelet count can lead to easy bruising, prolonged bleeding, and a higher risk of internal bleeding.
- Other possible features: Some individuals may also have heart defects, kidney problems, or facial abnormalities.
Causes
TAR syndrome is a genetic disorder. Mutations in the RBM8A gene are responsible for the condition in most cases. These mutations can be inherited from a parent or occur spontaneously.
Inheritance/recurrence risk
TAR syndrome is typically inherited in an autosomal dominant pattern, meaning that one copy of the mutated gene from either parent is sufficient to cause the disorder. If one parent has TAR syndrome, there is a 50% chance that each child will inherit the condition.
