Living with Radial aplasia-thrombocytopenia syndrome
A rare genetic condition with missing forearm bones and a low platelet count that causes easy bruising and bleeding.
Understanding Radial aplasia-thrombocytopenia syndrome
Low platelets (thrombocytopenia) usually appear in infancy and become less severe over time. They cause easy bruising and frequent nosebleeds, and serious bleeding episodes can happen, especially in the first year. Unlike similar conditions, people with TAR have thumbs. Other features can include hand differences, skeletal differences in the arms, legs, or hips, and heart or kidney differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low platelet count with easy bruising and nosebleeds
- Missing radius bone in the forearm
- Underdeveloped ulna or upper arm bone
- Curved pinky fingers
- Hip or kneecap problems
- A small lower jaw or a prominent forehead
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists, bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in RBM8A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Platelet Disorder Support Association
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the RBM8A gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: 1q21.1 susceptibility locus for thrombocytopenia-absent radius (tar) syndrome; tar; tar - thrombocytopenia with absent radius syndrome; tar syndrome; thrombocytopenia absent radius syndrome; thrombocytopenia with absent radii (tar) syndrome
Patient organizations
- Platelet Disorder Support AssociationRadial aplasia-thrombocytopenia syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Radial aplasia-thrombocytopenia syndrome.
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