Overview
Non-syndromic complete hemimelia is a rare congenital condition where a child is born with a limb that is missing its lower (or sometimes upper) segment entirely, without any other associated birth defects or underlying syndrome. The word 'hemimelia' comes from Greek meaning 'half limb.' In complete hemimelia, the affected limb is absent from a certain point downward — for example, the lower leg and foot may be completely missing while the thigh is present. 'Non-syndromic' means this occurs as an isolated finding, not as part of a broader genetic syndrome affecting multiple body systems. The condition is present at birth and is usually noticed immediately. It can affect the arms or legs, and may involve one or both sides of the body. The exact cause is not fully understood in most cases, though disruptions during early fetal limb development are believed to play a role. Some cases may be linked to genetic factors, while others appear to occur randomly. Treatment focuses on helping the child achieve the best possible function and quality of life. This typically involves prosthetic limbs, physical and occupational therapy, and sometimes surgical procedures to improve limb shape or function. With modern prosthetics and rehabilitation, many children with hemimelia grow up to lead active, independent lives.
Key symptoms:
Complete absence of the lower portion of a limb from birthMissing lower leg and/or foot (fibular or tibial hemimelia)Missing lower arm and/or hand (radial or ulnar hemimelia)Shortened or underdeveloped remaining limb segmentDifferences in limb length between the two sides of the bodyPossible differences in the shape of the remaining limb stumpDifficulty with balance and walking if a leg is affectedDifficulty with grasping or fine motor tasks if an arm is affected
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 Non-syndromic complete hemimelia.
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Specialists
View all specialists →No specialists are currently listed for Non-syndromic complete hemimelia.
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 complete hemimelia.
Community
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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.When is the best time to start fitting my child with a prosthetic limb, and what type is recommended?,Should we see a clinical geneticist to find out if there is a genetic cause, and what does that mean for future pregnancies?,What surgical options might be considered, and when would surgery be recommended?,How often will my child need a new prosthesis as they grow, and what does that cost?,What therapy services should my child receive, and how often?,Are there support groups or communities for children and families living with limb differences?,What signs should I watch for that would mean my child needs to be seen sooner than their next scheduled appointment?
Common questions about Non-syndromic complete hemimelia
What is Non-syndromic complete hemimelia?
Non-syndromic complete hemimelia is a rare congenital condition where a child is born with a limb that is missing its lower (or sometimes upper) segment entirely, without any other associated birth defects or underlying syndrome. The word 'hemimelia' comes from Greek meaning 'half limb.' In complete hemimelia, the affected limb is absent from a certain point downward — for example, the lower leg and foot may be completely missing while the thigh is present. 'Non-syndromic' means this occurs as an isolated finding, not as part of a broader genetic syndrome affecting multiple body systems. The
How is Non-syndromic complete hemimelia inherited?
Non-syndromic complete hemimelia follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Non-syndromic complete hemimelia typically begin?
Typical onset of Non-syndromic complete hemimelia is neonatal. Age of onset can vary across affected individuals.