Overview
Bilateral amelia of the upper limb is a rare congenital condition in which a baby is born without both arms. The term 'amelia' comes from the Greek word meaning 'without limb.' In this condition, both upper limbs (arms) are completely absent from birth. This is different from conditions where the limbs are partially formed (called phocomelia or meromelia). The condition is present at birth and is typically detected during prenatal ultrasound or immediately after delivery. Bilateral upper limb amelia can occur as an isolated finding or as part of a broader syndrome that may involve other birth defects affecting the heart, kidneys, or other organs. The causes can vary and may include genetic factors, environmental exposures during pregnancy, or disruptions in blood supply to the developing limbs during early fetal development. In many cases, the exact cause remains unknown. Note: This specific Orphanet entry (295055) is marked as 'OBSOLETE,' meaning it may have been reclassified or merged into a broader category in current medical databases. Patients and families should work with their medical team to identify the most current classification for their condition. Treatment focuses on adaptive devices, prosthetics, occupational therapy, and supportive care to maximize independence and quality of life. There is no cure that can restore the missing limbs, but advances in prosthetic technology and rehabilitation have greatly improved outcomes for affected individuals.
Key symptoms:
Complete absence of both arms from birthAbsence of shoulder structures may varyDifficulty with feeding and self-care tasksPossible associated heart defectsPossible associated kidney abnormalitiesPossible associated spine or rib abnormalitiesChallenges with balance and coordinationPossible associated defects in other limbs
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: Amelia of upper limb, bilateral.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Amelia of upper limb, 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: Amelia of upper limb, bilateral.
Community
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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 this condition isolated or part of a broader syndrome, and what additional testing is needed?,Should we pursue genetic testing, and what would the results mean for future pregnancies?,When should we start occupational therapy and prosthetic fitting?,What type of prosthetic devices are available and appropriate for my child's age?,Are there any associated heart, kidney, or other organ problems we should screen for?,What school accommodations should we request for my child?,Are there support groups or other families we can connect with who have experience with this condition?
Common questions about OBSOLETE: Amelia of upper limb, bilateral
What is OBSOLETE: Amelia of upper limb, bilateral?
Bilateral amelia of the upper limb is a rare congenital condition in which a baby is born without both arms. The term 'amelia' comes from the Greek word meaning 'without limb.' In this condition, both upper limbs (arms) are completely absent from birth. This is different from conditions where the limbs are partially formed (called phocomelia or meromelia). The condition is present at birth and is typically detected during prenatal ultrasound or immediately after delivery. Bilateral upper limb amelia can occur as an isolated finding or as part of a broader syndrome that may involve other birth
At what age does OBSOLETE: Amelia of upper limb, bilateral typically begin?
Typical onset of OBSOLETE: Amelia of upper limb, bilateral is neonatal. Age of onset can vary across affected individuals.