OBSOLETE: Fibular hemimelia, unilateral

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ORPHA:295081
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8Treatment centers

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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

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Fibular hemimelia, unilateral.

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No actively recruiting trials found for OBSOLETE: Fibular hemimelia, unilateral at this time.

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No specialists are currently listed for OBSOLETE: Fibular hemimelia, unilateral.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to OBSOLETE: Fibular hemimelia, unilateral.

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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.