Overview
Isolated absence of both forearm and hand is a rare congenital limb deficiency present at birth, in which a baby is born missing both the forearm (the part between the elbow and wrist) and the hand on one or both arms. This condition is also known as bilateral transverse upper limb deficiency at the forearm level, or bilateral congenital below-elbow amputation. The term 'isolated' means it occurs without other major birth defects or syndromes. This condition happens during early pregnancy when the limbs are forming. In most cases, the exact cause is unknown. It may occur randomly (sporadically) without a clear genetic explanation, though in rare instances environmental factors during pregnancy or genetic changes may play a role. The upper arms and elbows are typically normal, and the child's overall health and intelligence are usually unaffected. Treatment focuses on helping the child achieve the best possible function and independence. This often includes prosthetic devices (artificial limbs), occupational therapy, and adaptive equipment. Early intervention programs can help children learn to perform daily tasks. Advances in prosthetic technology, including myoelectric (muscle-controlled) prostheses, have greatly improved outcomes. Surgical options are rarely needed but may be considered to improve the residual limb for better prosthetic fitting. With proper support, most individuals lead full, active, and independent lives.
Key symptoms:
Absence of both forearms and hands from birthShortened arms ending at or near the elbowDifficulty grasping and holding objectsChallenges with self-care tasks like dressing and eatingDifficulty with fine motor activities like writingPossible differences in balance due to altered arm lengthResidual limb may have small finger-like buds (nubbins) at the end
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 both forearm and hand.
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Specialists
View all specialists →No specialists are currently listed for Isolated absence of both forearm and hand.
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 both forearm and hand.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
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 truly isolated, or should we test for any underlying genetic syndromes?,At what age should my child start using prosthetic limbs, and what type is best to start with?,How often will prosthetics need to be replaced as my child grows?,What occupational therapy services are available to help my child become more independent?,Are there specialized limb deficiency clinics or multidisciplinary teams we should be referred to?,What is the chance of this condition occurring again in future pregnancies?,Are there support groups or organizations for families of children with limb differences?
Common questions about Isolated absence of both forearm and hand
What is Isolated absence of both forearm and hand?
Isolated absence of both forearm and hand is a rare congenital limb deficiency present at birth, in which a baby is born missing both the forearm (the part between the elbow and wrist) and the hand on one or both arms. This condition is also known as bilateral transverse upper limb deficiency at the forearm level, or bilateral congenital below-elbow amputation. The term 'isolated' means it occurs without other major birth defects or syndromes. This condition happens during early pregnancy when the limbs are forming. In most cases, the exact cause is unknown. It may occur randomly (sporadicall
How is Isolated absence of both forearm and hand inherited?
Isolated absence of both forearm and hand follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Isolated absence of both forearm and hand typically begin?
Typical onset of Isolated absence of both forearm and hand is neonatal. Age of onset can vary across affected individuals.