Overview
Non-syndromic longitudinal limb defect is a rare congenital condition where one or more limbs — arms or legs — are partially or completely missing along their length at birth. Unlike syndromic limb defects, this condition occurs on its own, without other major birth defects or intellectual disabilities as part of a recognized syndrome. The term 'longitudinal' means the missing or underdeveloped bone or tissue runs along the long axis of the limb — for example, a missing radius bone in the forearm, or an absent fibula in the lower leg. Common examples include radial ray deficiency (missing or small radius), fibular hemimelia (absent or short fibula), and tibial hemimelia (absent tibia). Children born with this condition may have a limb that looks shorter than usual, has missing fingers or toes, or is shaped differently. The affected limb may have limited movement or function depending on which bones are involved. Some children adapt remarkably well, while others may benefit from prosthetics, surgery, or physical therapy to improve function and independence. Treatment is tailored to each person and may include prosthetic limbs, orthopedic surgery to lengthen or reconstruct bones, and physical or occupational therapy. The goal is to maximize function and quality of life. With the right support, many people with this condition live full, active lives.
Key symptoms:
Missing or underdeveloped bone in an arm or legShorter than normal arm or legMissing, fused, or extra fingers or toes on the affected limbUnusual shape or appearance of the hand, foot, forearm, or lower legLimited range of motion in the affected limbDifficulty gripping objects if the hand or forearm is affectedDifficulty walking or bearing weight if the leg is affectedInstability of joints near the defectCurved or bowed appearance of the limb
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 Non-syndromic longitudinal limb defect.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Non-syndromic longitudinal limb defect at this time.
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Specialists
View all specialists →No specialists are currently listed for Non-syndromic longitudinal limb defect.
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 Non-syndromic longitudinal limb defect.
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.Which specific bones are affected and what does that mean for my child's function?,Should we pursue genetic testing to understand the cause?,When is the right time to start using a prosthetic limb?,What surgical options are available and what are the risks and benefits?,How often will my child need new prosthetics as they grow?,What therapy services should we start and how often?,Are there support groups or other families we can connect with?
Common questions about Non-syndromic longitudinal limb defect
What is Non-syndromic longitudinal limb defect?
Non-syndromic longitudinal limb defect is a rare congenital condition where one or more limbs — arms or legs — are partially or completely missing along their length at birth. Unlike syndromic limb defects, this condition occurs on its own, without other major birth defects or intellectual disabilities as part of a recognized syndrome. The term 'longitudinal' means the missing or underdeveloped bone or tissue runs along the long axis of the limb — for example, a missing radius bone in the forearm, or an absent fibula in the lower leg. Common examples include radial ray deficiency (missing or s
At what age does Non-syndromic longitudinal limb defect typically begin?
Typical onset of Non-syndromic longitudinal limb defect is neonatal. Age of onset can vary across affected individuals.