Overview
Isolated absence of the upper arm and forearm with the hand present is a rare congenital limb difference that is present at birth. In this condition, the bones of the upper arm (humerus) and forearm (radius and ulna) are missing or severely underdeveloped, but the hand is present and attached directly or nearly directly to the shoulder area. This condition is sometimes called phocomelia when the hand appears to arise from the trunk or shoulder region. The term 'isolated' means it occurs on its own without other major birth defects or as part of a recognized syndrome. This limb difference happens during early pregnancy when the baby's arms are forming, typically between the fourth and eighth weeks of development. The exact cause is often unknown, though in some cases it may be linked to genetic factors, disruptions in blood supply to the developing limb, or environmental exposures during pregnancy. Historically, the drug thalidomide was a well-known cause of this type of limb reduction, though today most cases occur without a clear cause. There is no way to restore the missing bones after birth. Treatment focuses on helping the child function as well as possible. This may include prosthetic devices, occupational therapy, physical therapy, and sometimes surgery to improve the position or function of the hand. Many children adapt remarkably well and develop creative ways to perform daily tasks. Early intervention with a multidisciplinary team is important to maximize independence and quality of life.
Key symptoms:
Missing upper arm bone (humerus)Missing forearm bones (radius and ulna)Hand attached at or near the shoulderShortened or absent arm lengthLimited reach and arm movementDifficulty with two-handed tasksPossible differences in hand size or finger developmentAsymmetry between arms if only one side is affectedReduced grip strength on the affected side
Clinical phenotype terms (18)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Isolated absence of upper arm and forearm with hand present.
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Specialists
View all specialists →No specialists are currently listed for Isolated absence of upper arm and forearm with hand present.
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 Isolated absence of upper arm and forearm with hand present.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What tests should be done to make sure there are no other associated conditions or syndromes?,Would genetic testing be helpful for our family, and could this happen again in a future pregnancy?,What prosthetic options are available for my child, and at what age should we start?,How can occupational therapy help my child become more independent?,Are there any surgical options that could improve my child's hand function or positioning?,What school accommodations should we request for my child?,Can you connect us with other families or support groups for children with limb differences?
Common questions about Isolated absence of upper arm and forearm with hand present
What is Isolated absence of upper arm and forearm with hand present?
Isolated absence of the upper arm and forearm with the hand present is a rare congenital limb difference that is present at birth. In this condition, the bones of the upper arm (humerus) and forearm (radius and ulna) are missing or severely underdeveloped, but the hand is present and attached directly or nearly directly to the shoulder area. This condition is sometimes called phocomelia when the hand appears to arise from the trunk or shoulder region. The term 'isolated' means it occurs on its own without other major birth defects or as part of a recognized syndrome. This limb difference happ
How is Isolated absence of upper arm and forearm with hand present inherited?
Isolated absence of upper arm and forearm with hand present follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Isolated absence of upper arm and forearm with hand present typically begin?
Typical onset of Isolated absence of upper arm and forearm with hand present is neonatal. Age of onset can vary across affected individuals.