Overview
Bilateral humeral agenesis or hypoplasia is an extremely rare congenital condition in which both upper arm bones (the humerus bones) are either completely absent (agenesis) or significantly underdeveloped (hypoplasia) at birth. This condition affects both arms, meaning the child is born with shortened or missing upper arms on both sides. The hands and forearms may be present but are positioned closer to the shoulders than normal, or in some cases, additional limb abnormalities may also be present. This entry in Orphanet is marked as 'OBSOLETE,' which means it has been retired or reclassified. It may now be categorized under a broader group of limb reduction defects or a more specific syndrome that includes bilateral humeral involvement. Limb reduction defects can occur as isolated findings or as part of a larger genetic syndrome. Because this is an obsolete classification, patients and families who have been given this diagnosis should work closely with a clinical geneticist to determine whether a more specific or updated diagnosis applies. Treatment is generally supportive and may include prosthetics, occupational therapy, and surgical interventions to improve function. The goal of care is to maximize independence and quality of life. Early intervention services for children can be very helpful in developing adaptive skills.
Also known as:
Key symptoms:
Absent or very short upper arm bones on both sidesShortened armsLimited arm movement and reachHands positioned close to the shouldersDifficulty with tasks requiring arm length such as reaching or liftingPossible additional limb differencesReduced grip strength or arm strengthAsymmetry in body proportions
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Humeral agenesis/hypoplasia, bilateral.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for OBSOLETE: Humeral agenesis/hypoplasia, bilateral at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Humeral agenesis/hypoplasia, bilateral.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to OBSOLETE: Humeral agenesis/hypoplasia, bilateral.
Community
No community posts yet. Be the first to share your experience with OBSOLETE: Humeral agenesis/hypoplasia, bilateral.
Start the conversation →Latest news about OBSOLETE: Humeral agenesis/hypoplasia, bilateral
No recent news articles for OBSOLETE: Humeral agenesis/hypoplasia, bilateral.
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.Is there an underlying genetic syndrome causing this condition, and should we pursue genetic testing?,What type of prosthetic options are available for my child at this age?,How often should we schedule occupational and physical therapy?,Are there any associated health problems we should screen for?,Can you refer us to a specialized limb difference clinic?,What early intervention services should we enroll in?,Is there a risk of this condition occurring in future pregnancies?
Common questions about OBSOLETE: Humeral agenesis/hypoplasia, bilateral
What is OBSOLETE: Humeral agenesis/hypoplasia, bilateral?
Bilateral humeral agenesis or hypoplasia is an extremely rare congenital condition in which both upper arm bones (the humerus bones) are either completely absent (agenesis) or significantly underdeveloped (hypoplasia) at birth. This condition affects both arms, meaning the child is born with shortened or missing upper arms on both sides. The hands and forearms may be present but are positioned closer to the shoulders than normal, or in some cases, additional limb abnormalities may also be present. This entry in Orphanet is marked as 'OBSOLETE,' which means it has been retired or reclassified.
At what age does OBSOLETE: Humeral agenesis/hypoplasia, bilateral typically begin?
Typical onset of OBSOLETE: Humeral agenesis/hypoplasia, bilateral is neonatal. Age of onset can vary across affected individuals.