Overview
This condition, listed as 'Congenital absence of upper arm and forearm with hand present, unilateral,' is an obsolete (no longer actively used) medical classification that described a rare limb difference present at birth. In this condition, a baby is born with one arm that is missing the upper arm (humerus) and forearm (radius and ulna) bones, but the hand is still present and attached directly to the shoulder area. This is sometimes called phocomelia when the hand or part of the limb attaches directly to the trunk or shoulder without the normal long bones in between. The term 'unilateral' means it affects only one side of the body. Because this Orphanet code is now obsolete, patients with this condition are likely reclassified under broader categories of congenital limb reduction defects or phocomelia. The cause can vary — it may occur sporadically with no clear reason, may be linked to genetic factors, or may result from environmental exposures during pregnancy (such as the historical association with thalidomide). Treatment focuses on maximizing function through prosthetics, physical therapy, occupational therapy, and sometimes surgery. Many individuals with this condition live full, independent lives with appropriate support and adaptive devices.
Key symptoms:
Hand attached directly at or near the shoulder on one sideMissing upper arm boneMissing forearm bonesShortened or absent arm on one sideReduced range of motion in the affected limbDifficulty with tasks requiring two handsPossible differences in hand size or finger formation on the affected sideNormal arm and hand on the unaffected side
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: Congenital absence of upper arm and forearm with hand present, unilateral.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Congenital absence of upper arm and forearm with hand present, 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: Congenital absence of upper arm and forearm with hand present, unilateral.
Community
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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.What is the exact anatomy of my child's limb, and which bones are present or absent?,Should we pursue genetic testing to look for an underlying cause or associated conditions?,When should we start occupational therapy, and what goals should we set?,Would a prosthetic device be helpful, and at what age should we start?,Are there any associated health conditions we should screen for?,Can you refer us to a limb difference support group or peer network?,What school accommodations might my child need as they grow?
Common questions about OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral
What is OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral?
This condition, listed as 'Congenital absence of upper arm and forearm with hand present, unilateral,' is an obsolete (no longer actively used) medical classification that described a rare limb difference present at birth. In this condition, a baby is born with one arm that is missing the upper arm (humerus) and forearm (radius and ulna) bones, but the hand is still present and attached directly to the shoulder area. This is sometimes called phocomelia when the hand or part of the limb attaches directly to the trunk or shoulder without the normal long bones in between. The term 'unilateral' me
At what age does OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral typically begin?
Typical onset of OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral is neonatal. Age of onset can vary across affected individuals.