Overview
This condition, listed as 'Congenital absence of upper arm and forearm with hand present, bilateral,' is an obsolete medical classification that described a rare birth difference affecting both arms. In this condition, a baby is born with both hands present but missing the upper arm (humerus) and forearm (radius and ulna) bones on both sides. Essentially, the hands appear to attach directly or nearly directly to the shoulders. This type of limb difference is sometimes referred to as phocomelia when the hands or feet are present but the long bones of the limbs are absent or severely shortened. Because this Orphanet entry is marked as obsolete, it has likely been reclassified or merged into a broader category of limb reduction defects or phocomelia. Bilateral phocomelia can occur as an isolated finding or as part of a genetic syndrome such as Roberts syndrome or thrombocytopenia-absent radius (TAR) syndrome. Historically, thalidomide exposure during pregnancy was a well-known cause of this type of limb difference. Treatment focuses on maximizing function through prosthetics, adaptive devices, occupational therapy, and sometimes surgical interventions. Many individuals with bilateral upper limb differences learn to use their feet and other adaptive strategies to achieve remarkable independence.
Key symptoms:
Absence of the upper arm bones on both sidesAbsence of the forearm bones on both sidesHands attached near or at the shouldersShortened or absent long bones of the armsDifficulty with reaching and graspingReduced arm length on both sidesPossible differences in hand structure or finger numberLimited range of motion in the upper limbsPossible associated heart defects if part of a syndromePossible blood count abnormalities if part of a syndrome
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 eventTrexan: FDA approved
For blockade of the pharmacological effects of exogenously administered opioids as an adjunct to the maintenance of the opioid-free state in detoxified formerly opioid-dependent individuals.
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableTrexan
Clinical Trials
View all trials with filters →No actively recruiting trials found for OBSOLETE: Congenital absence of upper arm and forearm with hand present, 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: Congenital absence of upper arm and forearm with hand present, 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: Congenital absence of upper arm and forearm with hand present, bilateral.
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.Is this limb difference isolated or could it be part of a genetic syndrome?,Should genetic testing be done, and if so, what tests are recommended?,What type of prosthetic devices would be most helpful, and when should fitting begin?,How often should my child see an occupational therapist?,Are there any associated health problems we should screen for, such as heart or blood issues?,Can you connect us with other families or support groups for children with limb differences?,What school accommodations should we request?
Common questions about OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral
What is OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral?
This condition, listed as 'Congenital absence of upper arm and forearm with hand present, bilateral,' is an obsolete medical classification that described a rare birth difference affecting both arms. In this condition, a baby is born with both hands present but missing the upper arm (humerus) and forearm (radius and ulna) bones on both sides. Essentially, the hands appear to attach directly or nearly directly to the shoulders. This type of limb difference is sometimes referred to as phocomelia when the hands or feet are present but the long bones of the limbs are absent or severely shortened.
At what age does OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral typically begin?
Typical onset of OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral is neonatal. Age of onset can vary across affected individuals.
What treatment and support options exist for OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral?
1 patient support program are currently tracked on UniteRare for OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral. See the treatments and support programs sections for copay assistance, eligibility, and contact details.