Tibial hemimelia

Common Name(s)

Tibial hemimelia

Tibial hemimelia (TH) is a rare birth defect that causes a baby to have a partially or completely missing tibia, which is the large bone located below the knee (often called the shin bone). Affected individuals can also have issues with the knee, such as missing ligaments that support the knee and trouble straightening the knee. Other features may include foot deformities and feet with additional or webbed toes (syndactyly). Part of the ankle may be missing, causing the foot to point down or inward (clubfoot). An opening or split in the lip (cleft lip) and/or an opening in the roof of the mouth (cleft palate) has been seen in some children with TH.

TH is present at birth (congenital) and can affect either one leg (unilateral) or both legs (bilateral). It can occur alone (isolated TH) or can be seen in combination with other birth defects or health complications as part of a syndrome. There are different types of TH that describe whether a person is missing the entire tibia, the top of the tibia, or just the bottom of the tibia.

The cause of TH is uncertain. Many cases are random (sporadic) but some seem to be genetic, as they occur in more than one person in a family. Most of the genetic cases are inherited in an autosomal recessive way, which means a change (mutation) in both copies of a gene a person has is needed to have TH. However, a specific gene has not yet been associated with TH. Doctors typically diagnose TH before or at birth with ultrasounds, physical exams, and X-rays. There is no cure for TH. Treatment usually includes surgery to help make the affected leg more functional. In severe cases, an amputation just above or below the knee may be necessary. If your child has been diagnosed with TH, talk to a doctor about the most current treatment options. Support groups can help connect you with families also affected by tibial hemimelia.

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Advocacy and Support Organizations

 

Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Tibial 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 "Tibial hemimelia" returned 8 free, full-text research articles on human participants. First 3 results:

Tibial hypoplasia with a bifid tibia: an unclassified tibial hemimelia.
 

Author(s): Krupa Shah, Hitesh Shah

Journal:

 

Tibial hemimelia is a rare congenital limb deficiency which is characterised by a hypoplastic/aplastic tibia. It actually represents a spectrum of anomalies, ranging from mild hypoplasia of the tibia to total absence of the tibia. Several classifications based on radiological description ...

Last Updated: 31 Dec 1969

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Unclassified tibial hemimelia.
 

Author(s): Vishnu Senthil, Imthias V Kottamttavide, Hitesh Shah

Journal:

 

Tibial hemimelia (congenital longitudinal deficiency of the tibia) is rare (1 in 1 000 000). There are several classifications in the literature. We report an unclassified case of tibial hemimelia. A 6-year-old girl presented with shortening of the right lower limb, with a small ...

Last Updated: 31 Dec 1969

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Preliminary report on amputation versus reconstruction in treatment of tibial hemimelia.
 

Author(s): Halil İbrahim Balcı, Yavuz Sağlam, Fuat Bilgili, Cengiz Şen, Mehmet Kocaoğlu, Levent Eralp

Journal: Acta Orthop Traumatol Turc. 2015 ;49(6):627-33.

 

Tibial hemimelia is a rare disorder characterized by the absence or hypoplasia of the tibia with associated rigidity. The aim of this study was to retrospectively evaluate the affectivity of reconstructive surgeries including centralization of the knee-ankle joints and lengthening ...

Last Updated: 31 Dec 1969

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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 "Tibial hemimelia" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.