Living with Humerus trochlea aplasia
An extremely rare inherited bone difference at the elbow end of the upper arm bone, reported only in Japanese patients.
Understanding Humerus trochlea aplasia
It has only been described in Japanese patients so far. Nearly half of patients have it on both sides, and then it is symmetrical. It sometimes causes ulnar nerve palsy (weakness from a nerve in the arm) or cubitus varus (the elbow angles inward). It is present from birth.
Signs & symptoms
GARD doesn't list specific symptoms for this condition. Its summary describes:
- Elbow bone difference
- Ulnar nerve weakness (palsy) in some
- Inward-angled elbow (cubitus varus) in some
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 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
- 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
Changes in genes (also called variants) cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: aplasia of trochlea of humerus
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 Humerus trochlea aplasia.
Explore research for Humerus trochlea aplasia
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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