Overview
Unilateral amelia of the upper limb is a rare congenital condition in which a baby is born with one arm completely missing. The term 'amelia' means the total absence of a limb, and 'unilateral' means it affects only one side of the body. This condition is present at birth and is identified during pregnancy on ultrasound or immediately after delivery. It falls under the broader category of limb reduction defects, where part or all of a limb does not form properly during early fetal development. The causes of unilateral upper limb amelia can vary. In some cases, it may be linked to genetic factors, disruptions in blood supply to the developing limb, exposure to certain medications or environmental factors during pregnancy (such as thalidomide historically), or it may occur as part of a broader syndrome. In many cases, no specific cause is found, and the condition occurs in isolation without other health problems. Note: This Orphanet entry (295053) is marked as 'OBSOLETE,' meaning it may have been reclassified or merged into a broader category of limb deficiency conditions. Patients and families should work with their medical team to find the most current classification. Treatment focuses on adaptive strategies, prosthetic limbs, occupational therapy, and supportive care to help the individual achieve maximum independence and quality of life. There is no cure that can regrow a missing limb, but advances in prosthetics and rehabilitation continue to improve outcomes significantly.
Key symptoms:
Complete absence of one arm from birthAbsence of the shoulder joint or partial shoulder on the affected sideDifficulty with tasks that normally require two handsPossible asymmetry of the chest or shoulder areaPossible associated anomalies in some cases (heart defects, kidney problems, or other limb differences)
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
1 eventData sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Amelia of upper limb, unilateral.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Amelia of upper limb, unilateral.
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: Amelia of upper limb, unilateral.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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 my child's limb absence isolated, or could it be part of a genetic syndrome?,Should we pursue genetic testing, and what would it tell us?,At what age should we consider fitting a prosthetic limb?,What types of prosthetics are available, and what would be best for my child's age and needs?,How often should we see an occupational therapist?,Are there any associated health conditions we should screen for?,Can you refer us to a limb difference support group or specialized clinic?
Common questions about OBSOLETE: Amelia of upper limb, unilateral
What is OBSOLETE: Amelia of upper limb, unilateral?
Unilateral amelia of the upper limb is a rare congenital condition in which a baby is born with one arm completely missing. The term 'amelia' means the total absence of a limb, and 'unilateral' means it affects only one side of the body. This condition is present at birth and is identified during pregnancy on ultrasound or immediately after delivery. It falls under the broader category of limb reduction defects, where part or all of a limb does not form properly during early fetal development. The causes of unilateral upper limb amelia can vary. In some cases, it may be linked to genetic fact
At what age does OBSOLETE: Amelia of upper limb, unilateral typically begin?
Typical onset of OBSOLETE: Amelia of upper limb, unilateral is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for OBSOLETE: Amelia of upper limb, unilateral?
Yes — 1 recruiting clinical trial is currently listed for OBSOLETE: Amelia of upper limb, unilateral on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.