What is Humerus trochlea aplasia?
Humerus trochlea aplasia is an extremely rare skeletal condition in which the trochlea — a spool-shaped part of the lower end of the upper arm bone (humerus) that forms a key part of the elbow joint — fails to develop properly or is completely absent. The trochlea normally allows the elbow to bend and straighten smoothly by articulating with the ulna (one of the two forearm bones). When this structure is missing or underdeveloped, the elbow joint does not function normally, which can lead to limited range of motion, instability of the elbow, and difficulty with everyday arm movements. People with this condition may notice problems with bending or fully extending the elbow, and the joint may appear abnormal or feel unstable. Pain and progressive joint problems can develop over time. Because this condition is present from birth, it is typically identified in childhood, often when a child has trouble with arm movements or when an X-ray reveals the abnormal bone structure. There is currently no cure for humerus trochlea aplasia. Treatment focuses on managing symptoms and improving elbow function. Options may include physical therapy to maintain range of motion, bracing or splinting for joint support, and in some cases orthopedic surgery to reconstruct or stabilize the elbow joint. The rarity of this condition means that management is highly individualized, and care is best coordinated by specialists experienced with skeletal abnormalities.
Key symptoms:
Limited ability to bend or straighten the elbowElbow joint instabilityAbnormal appearance of the elbowDifficulty carrying or lifting objectsReduced range of motion in the armElbow pain or discomfortAbnormal angle of the forearm relative to the upper armDifficulty with daily tasks requiring arm useProgressive joint stiffness
- Inheritance
- Variable
- Can be inherited in different ways depending on the underlying gene
- Age of Onset
- Neonatal
- Begins at or shortly after birth (first 4 weeks)
Treatments
Source: openFDA + DailyMed · NDA / BLA labels with structured indications · refreshed weekly
No FDA-approved treatments are currently listed for Humerus trochlea aplasia.
View clinical trials →Clinical Trials
View all trials with filters →Source: ClinicalTrials.gov · synced daily · phases, status, and PI names normalized at ingest
No actively recruiting trials found for Humerus trochlea aplasia at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →Source: NPI Registry + PubMed · trial PI roles cross-referenced with ClinicalTrials.gov · ranked by match score (publications + PI activity + community signal)
No specialists are currently listed for Humerus trochlea aplasia.
Treatment Centers
8 centersSource: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months
Children's Hospital Colorado Rare Disease Program ↗
Children's Hospital Colorado
📍 Aurora, CO
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDBoston Children's Hospital Rare Disease Program ↗
Boston Children's Hospital
📍 Boston, MA
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
🏨 Children'sAnn & Robert H. Lurie Children's Hospital Genetics ↗
Lurie Children's Hospital
📍 Chicago, IL
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDCincinnati Children's Hospital Medical Center ↗
Cincinnati Children's
📍 Cincinnati, OH
👤 Boston Children's Hospital Rare Disease Program
🏨 Children'sNationwide Children's Hospital Rare Disease Center ↗
Nationwide Children's Hospital
📍 Columbus, OH
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
Travel Grants
No travel grants are currently matched to Humerus trochlea aplasia.
Community
No community posts yet. Be the first to share your experience with Humerus trochlea aplasia.
Start the conversation →Latest news about Humerus trochlea aplasia
Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC
No recent news articles for Humerus trochlea aplasia.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is the trochlea aplasia, and how much does it affect my child's elbow function?,Is this condition isolated, or could it be part of a broader skeletal syndrome?,Would genetic testing be helpful for our family?,What physical therapy or occupational therapy do you recommend?,Is surgery an option, and what are the risks and expected outcomes?,What activities should be avoided to protect the elbow joint?,How often should we schedule follow-up imaging and specialist visits?
Common questions about Humerus trochlea aplasia
What is Humerus trochlea aplasia?
Humerus trochlea aplasia is an extremely rare skeletal condition in which the trochlea — a spool-shaped part of the lower end of the upper arm bone (humerus) that forms a key part of the elbow joint — fails to develop properly or is completely absent. The trochlea normally allows the elbow to bend and straighten smoothly by articulating with the ulna (one of the two forearm bones). When this structure is missing or underdeveloped, the elbow joint does not function normally, which can lead to limited range of motion, instability of the elbow, and difficulty with everyday arm movements. People
At what age does Humerus trochlea aplasia typically begin?
Typical onset of Humerus trochlea aplasia is neonatal. Age of onset can vary across affected individuals.
Frequently asked questions about Humerus trochlea aplasia
Auto-generated from canonical disease facts (Orphanet, OMIM, ClinicalTrials.gov, openFDA, NPPES). Not a substitute for clinical guidance.
What is Humerus trochlea aplasia?
Humerus trochlea aplasia is a rare disease catalogued in international rare-disease ontologies (Orphanet ORPHA:3383, OMIM 191000). It is typically inherited as variable. Age of onset is generally neonatal. For verified primary sources, see the UniteRare Humerus trochlea aplasia page.
How is Humerus trochlea aplasia inherited?
Humerus trochlea aplasia follows variable inheritance. Genetic counseling is recommended for affected families to understand recurrence risk in offspring and the likelihood of unaffected siblings being carriers. Variants in the underlying gene(s) may be identified via clinical genetic testing.
Are there FDA-approved treatments for Humerus trochlea aplasia?
Approved treatments for Humerus trochlea aplasia are tracked from openFDA and DailyMed primary sources. Many rare diseases have no specific FDA-approved therapy; for those, supportive care and management of complications form the basis of clinical care. Orphan-drug-designation status is noted where applicable.
Are there clinical trials for Humerus trochlea aplasia?
Active clinical trials for Humerus trochlea aplasia are tracked daily from ClinicalTrials.gov. Trial availability changes frequently; check the UniteRare trial listings for the current count and recruitment status. Sponsors of rare-disease research often welcome inquiries even when a trial is not actively recruiting at a given moment.
How do I find a specialist for Humerus trochlea aplasia?
Verified Humerus trochlea aplasia specialists are identified through ClinicalTrials.gov principal-investigator records, peer-reviewed publication authorship (via PubMed), and the NPPES NPI registry. NORD-designated Centers of Excellence and NIH-affiliated rare-disease clinics are also tracked. UniteRare's specialist directory is updated continuously as new evidence becomes available.
See full Humerus trochlea aplasia page for complete clinical details, sources, and verified-specialist listings.
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