Living with Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
A rare inherited condition with fused forearm bones and a low platelet count present from birth.
Understanding Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
The two forearm bones, the radius and ulna, are joined near the elbow. Platelets, the blood cells that help blood clot, are low because the bone marrow doesn't make enough of the cells that produce them. GARD lists onset in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low platelet count (amegakaryocytic thrombocytopenia)
- Fused forearm bones (radioulnar synostosis)
- Curved pinky fingers (clinodactyly)
- Joined fingers (syndactyly)
- Hip problems (hip dysplasia)
- Hearing loss from inner ear changes
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 rare disease patient organizations for support
- 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 HOXA11 gene. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: atrus syndrome; radioulnar synostosis with amegakaryocytic thrombocytopenia
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome.
Explore research for Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Explore actively recruiting Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome studies with HealthSpark.
Find actively recruiting studies for Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.