Living with Humeral agenesis/hypoplasia
A rare limb difference at birth in which the upper arm bone is missing or underdeveloped, leaving a short arm.
Understanding Humeral agenesis/hypoplasia
It is not part of a larger syndrome. One or both arms are short. The forearm may look attached directly to the shoulder, with no shoulder or elbow joints. The radius may bow, the ulna may be short, and the hand may tilt at the wrist.
Signs & symptoms
GARD doesn't list specific symptoms for this condition. Its summary describes:
- Short arm on one or both sides
- Missing or small upper arm bone
- Forearm appears attached to shoulder
- No elbow joint
- Bowed radius and short ulna
- Hand tilted at the wrist
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. GARD doesn't list a specific gene or inheritance pattern.
Also known as: congenital absence of humerus; congenital hypoplasia of humerus; congenital short humerus; humeral intercalary meromelia
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 Humeral agenesis/hypoplasia.
Explore research for Humeral agenesis/hypoplasia
Explore actively recruiting Humeral agenesis/hypoplasia studies with HealthSpark.
Find actively recruiting studies for Humeral agenesis/hypoplasia 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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