Fibular hemimelia

Common Name(s)

Fibular hemimelia

Fibular hemimelia (FH) is a rare birth defect that causes a baby to have a partially or completely missing fibula, which is the small bone located below the knee next to the shinbone (often called the calf bone). Affected individuals may also have lower limb abnormalities or absence of bones in the femur, knee, shinbone, ankle and foot. Abnormalities in the ankle and foot can cause the foot to point down or inward (clubfoot). FH is present at birth (congenital) and usually affects only one leg (unilateral), but can affect both legs (bilateral). When FH is unilateral, it is seen more often in the right leg than the left. FH seems to affect males more often than females.

The exact cause of FH is uncertain. Most cases are random (sporadic) but a very small number seem to have a genetic factor, as they occur in more than one person in a family. A specific gene has not yet been associated with FH but the genetic form seems to be inherited in an autosomal dominant way, which means a mutation in one of the two gene copies a person has is enough to cause FH.

Doctors typically diagnose FH before (prenatal) or at birth with ultrasounds, physical exams, and X-rays. Treatment usually includes surgery to help make the affected leg more functional. In severe cases, amputation to remove the affected part of the leg may be necessary. If your child has been diagnosed with FH, talk to a doctor about the most current treatment options. Support groups can provide more information and connect you with affected families.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fibular hemimelia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fibular hemimelia" returned 12 free, full-text research articles on human participants. First 3 results:

Clinical Results and Complications of Lower Limb Lengthening for Fibular Hemimelia: A Report of Eight Cases.
 

Author(s): Kenichi Mishima, Hiroshi Kitoh, Koji Iwata, Masaki Matsushita, Yoshihiro Nishida, Tadashi Hattori, Naoki Ishiguro

Journal: Medicine (Baltimore). 2016 May;95(21):e3787.

 

Fibular hemimelia is a rare but the most common congenital long bone deficiency, encompassing a broad range of anomalies from isolated fibular hypoplasia up to substantial femoral and tibial shortening with ankle deformity and foot deficiency. Most cases of fibular hemimelia manifest ...

Last Updated: 27 May 2016

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Internal lengthening device for congenital femoral deficiency and fibular hemimelia.
 

Author(s): Lior Shabtai, Stacy C Specht, Shawn C Standard, John E Herzenberg

Journal: Clin. Orthop. Relat. Res.. 2014 Dec;472(12):3860-8.

 

Patients with congenital limb shortening can present with joint instability, soft tissue contractures, and significant leg length discrepancy. Classically, lengthening is done with external fixation, which can result in scarring, pin site infection, loss of motion, and pain. We therefore ...

Last Updated: 4 Nov 2014

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Residual malformations and leg length discrepancy after treatment of fibular hemimelia.
 

Author(s): Dimosthenis A Alaseirlis, Anastasios V Korompilias, Alexandros E Beris, Panayotis N Soucacos

Journal:

 

Fibular hemimelia has been reported as the most common congenital longitudinal deficiency of the long bones. Previous studies have focused on the best treatment options for this congenital condition. There is very little to our knowledge in the literature focused on residual persisting ...

Last Updated: 13 Oct 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fibular hemimelia" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.