Tibial Hemimelia


Tibial Hemimelia

Description, Causes and Risk Factors:

Tibial hemimelia is not a city in Tibet. It is a leg and foot condition where there is a partial or total absence of the tibia (also known as the shinbone). It is the rarest form of lower limb deficiency (present at birth) and only happens in one in a million births. This is a big deal because the tibia is the strongest weight bearing bone in the body.

There are two long bones in the lower leg, the thicker one is called the tibia and the thinner one is the fibula. When a baby has tibial hemimelia, the fibula is there, but the tibia is either missing or misshapen.

There is often a foot deformity and the foot may even have additional toes. If that wasn't enough, the knee may also be twisted inwards.

Most legs affected by tibial hemimelia will look unusual and it can happen in either in one leg or both legs. Thirty percent of the time with tibial hemimelia, both legs have it. Sometimes the fibula may also be deformed or unaffected.

Some forms of tibial hemimelia are genetically transmitted; others are sporadic. The exact prevalence of this rare condition is not known but it has been reported as familial in certain populations. Isolated sporadic cases are also on record. Malformations in addition to ectrodactyly and bilateral aplasia of the tibias (the full-blown syndrome), include distal hypoplasia or bifurcation of the femurs, hypo- or aplasia of the ulnas, aplasia of the patella, hypoplastic big toes and cup-shaped ears. Mildest visible manifestation is hypoplastic big toes, whereas the severest is tetramonodactyly or transverse hemimelia.

There are five types of tibial hemimelia: type 1a, type 1b, type 2, type 3, and type 4. In type 1a tibial hemimelia, there is complete absence of the tibia with proximal and lateral dislocation of the fibula.

In a series of 37 patients of TH-SHFM belonging to different families, 15 had tibial hemimelia (9 bilateral, 4 unilateral and 2 with right tibial agenesis and left severe hypoplasia) with foot anomalies ranging from one-toed to 5-toed clubfoot. The anomalies ranged from hand or foot anonychia, hand or foot syndactyly and/or preaxial hand polydactyly, to isolated unilateral tibial agenesis (with or without uni- or bilateral lobster clawhand), to bilateral tibial agenesis and bilateral lobster clawhand.

TH-SHFM associated with fatal pulmonary hypertension and congenital alveolar capillary dysplasia is reported in a consanguineous Turkish family. CHD seen in our case was a large membranous ventricular septal defect. Lethal congenital cardiac malformations have been described with “Tibial Hemimelia-Polydactyly syndrome”, an entity similar but distinct from TH-SHFM. Congenital heart disease has not been reported with TH-SHFM.

Symptoms:

Features of tibial hemimelia-split hand/foot syndrome, in absence of any familyhistory, in this neonate with anorectal atresia,sacral agenesis, hemivertebra and in particularthe CHD may either be a rare association or isit possible that there is an unexploredetiopathogenetic correlation which couldexplain the presence of all these rareconditions in a single neonate!

Diagnosis:

Tibial hemimelia may be discovered when the baby is born or during a routine ultrasound. Treatment of the Tibial hemimelia by a foot and ankle surgeon really depends on how severe it is.

Treatment:

The options for treatment of tibial hemimelia will vary depending on which bones are present, the size and shape of them and any problems in other structures such as muscles and ligaments.

For a mild form of tibial hemimelia, the Ilizarov apparatus may be used to lengthen the baby or child's leg and improve the position of the foot. In more severe cases of tibial hemimelia, amputation may be the best option, followed by a prosthetic limb (fake leg), which may be placed above or below the knee depending on the condition of the knee joint.

Some attempts at reconstruction of the tibia have been made using the fibula, but this rarely provides a functioning limb because of instability at the knee and problems with the quadriceps (thigh) musculature.

When considering tibial hemimelia treatment options for your child, it is important to remember there is not one `right' or `wrong' decision. Parents should never feel pressured into making any quick decisions, but should always have clear unbiased information.

If you child suffers from tibial hemimelia, then you need to contact a foot and ankle surgeon who can give you the best course of action for your child.

NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

4 Comments

  1. Sarah Mangut

    I have a baby with this condition, Doctors have suggested amputation below the knee and provision of a prosthesis later but the cost of the surgery and the prosthesis is a bit high for us. Can you recommend any charity organization that may be of help?
    Sarah

    Reply
    • editor-m

      Thank you for comment, Sarah. Unfortunately, we are not aware of such organisations but pretty sure there are many of them. Maybe, some of our readers will be able to help you with this.

      Reply
  2. Atai Lee

    Hi Sarah,

    I write to you from all the way in Jamaica. My son was also born with the condition that is when I became aware of its existence.

    You are correct the expertise for surgery is rare and the cost is burdensome unless you are a wealthy person. Shriners Hospital can assist with amputation.

    We we need to form a community, raise awareness and mobilize funding to assist in the treatment and advancement in finding solutions. every child should be able to have both legs functional as long as the human capacity exist to make this so.

    Reply
  3. Joy Aina

    Good day sir.
    I have a daughter with bilateral tibial hemimilia. The option presented so far is amputation but I know a hospital in Florida called Paley Institute where Dr Paley specializes in reconstruction with very high success rate. The cost of multiple surgeries is about $400,000. Do you know of any Charity that can support with payment for reconstruction of my Only daughters legs?

    Thank you
    Joy

    Reply

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