Overview
Fibular hemimelia, also known as fibular deficiency or absence of the fibula, is a condition present at birth where the fibula bone (the smaller bone on the outer side of the lower leg) is partially or completely missing on one side of the body. When it affects only one leg, it is called unilateral fibular hemimelia. This is the most common long bone deficiency seen in children. The condition can range from mild shortening of the fibula to its complete absence. Because the fibula plays a role in ankle stability and leg growth, children with this condition often have a shorter leg on the affected side, an unstable or abnormally shaped ankle, and sometimes missing toes or a bowed tibia (shinbone). The foot on the affected side may be smaller and may point inward or outward. In some cases, the knee joint may also be affected. Treatment depends on the severity and may include limb lengthening surgery, use of prosthetics, bracing, or in more severe cases, amputation followed by prosthetic fitting to allow better function and mobility. Many children with fibular hemimelia go on to lead active, fulfilling lives with appropriate treatment and support. Note: This specific Orphanet entry (295081) is marked as obsolete, meaning it may have been merged into a broader classification of fibular hemimelia.
Also known as:
Key symptoms:
One leg shorter than the otherMissing or shortened fibula bone in one legUnstable ankle jointBowing of the shinbone (tibia)Missing toes on the affected footSmaller foot on the affected sideFoot turned inward or outwardKnee instability or stiffnessAbsent or abnormal knee ligamentsLimping or difficulty walkingLeg length difference that worsens with growthBall-and-socket ankle joint
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 OBSOLETE: Fibular hemimelia, unilateral.
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Specialists
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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: Fibular hemimelia, unilateral.
Community
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's fibular hemimelia, and what classification does it fall under?,What is the expected leg length difference at skeletal maturity?,Is limb lengthening surgery or amputation with prosthetic fitting the better option for my child?,How many surgeries might my child need as they grow?,What are the risks and complications of the recommended treatment?,How will this condition affect my child's ability to walk, run, and play sports?,Should we see a geneticist to check for any associated conditions?
Common questions about OBSOLETE: Fibular hemimelia, unilateral
What is OBSOLETE: Fibular hemimelia, unilateral?
Fibular hemimelia, also known as fibular deficiency or absence of the fibula, is a condition present at birth where the fibula bone (the smaller bone on the outer side of the lower leg) is partially or completely missing on one side of the body. When it affects only one leg, it is called unilateral fibular hemimelia. This is the most common long bone deficiency seen in children. The condition can range from mild shortening of the fibula to its complete absence. Because the fibula plays a role in ankle stability and leg growth, children with this condition often have a shorter leg on the affect
How is OBSOLETE: Fibular hemimelia, unilateral inherited?
OBSOLETE: Fibular hemimelia, unilateral follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Fibular hemimelia, unilateral typically begin?
Typical onset of OBSOLETE: Fibular hemimelia, unilateral is neonatal. Age of onset can vary across affected individuals.