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Tibial Hemimelia explained

Tibial Hemimelia is a partial or total absence of the tibia and is the rarest form of lower limb deficiency present at birth. There are two long bones in the lower leg, the thicker one is called the tibia and the thinner one is the fibula. With Tibial Hemimelia the fibula is present but the tibia is either missing or misshapen. There is a foot deformity and the foot may have additional toes

The knee may also be twisted inwards.

Most legs affected by Tibial Hemimelia will look ‘unusual’. It can occur either in one leg or both legs – thirty percent have both legs affected. The fibula may be deformed or unaffected.

Diagnosis

Severe cases are likely to be seen at scans during pregnancy. Milder cases may not be noticed straight away and only become apparent when the shortening of the leg becomes more noticeable and the leg is X-rayed.  Most cases are thought to occur for no reason.

Steps have produced a downloadable publication, Leg Length Difference for parents who have been told of a possible problem with their baby’s legs.

How can it be treated?

Treatment depends on the exact form of the condition.

For the mildest form the Ilizarov apparatus may be used to lengthen the leg and improve the position of the foot. Steps are producing a publication on ‘Leg Equalisation’, explaining the process of leg lengthening and shortening and covers aspects of caring for a child during this process.

In more severe cases amputation is often the best option with the provision of a prosthetic limb which may be above or below the knee depending on the condition of the knee joint and the presence or absence of certain other parts of the upper leg.

Some attempts at reconstruction using the fibula have been made but rarely provide a well functioning limb due to instability at the knee and problems with the quadriceps (thigh) musculature. Steps have also produced a guide to help parents and carers prepare themselves and their child for a hospital admission.

Steps have produced a Fact Sheet about  Tibial Hemimelia to help parents understand the condition and its treatment.

 

Below is Rhys’ story. Rhys was born with Tibial Hemimelia and his mum describes the ups and downs of his diagnosis, surgery and the exciting and active life he leads.

Rhys's Story

 

Rhys was diagnosed with Tibial Hemimelia, which affects one child in every million born…Read More