Clubfoot Research Group, University of Aberdeen
steps Charity World Wide (UK charity)
VOK (Netherlands clubfoot support group)

What is clubfoot?

Congenital Talipes EquinoVarus is more commonly called clubfoot. It is a function deformity of the foot where the heel is drawn up and the sole of the foot is turned inwards. In the UK around 1000 babies a year are born with clubfoot. Without treatment, walking is impeded and despite advances in modern treatment, disability or stiffness can persist. Compared with other common developmental disorders there has been little research into the cause of CTEV.

What is ECCE?

The ECCE study is a long-term study to identify genetic and environmental causes of clubfoot through study of DNA and questionnaire information. Two parent support groups steps (UK) and VOK (Netherlands) collaborated with the researchers.

Around 750 responses from Trios (parents and one child) and 70 multi-case families have been received.

Why is the research important?

A fundamental question most parents ask is, "Why has this happened?" In our experience parents are exposed to a lot of conflicting information in trying to answer this question. Evidence suggests that there is a genetic component, but also lifestyle choices and other factors may contribute.

How have we collaborated?

The groups sent questionnaires and mouthwash DNA sample kits to members on their databases inviting them to take part.

Meantime, the long process of studying the samples has begun. The researchers are looking at the pattern of the genes in samples from the child/person with clubfoot, and are comparing these with those of their parents' genes.

Participation in the study is now closed unless you are a family who has more than one close relative with clubfoot. If you think you qualify and would like to take part, please contact the steps office.

For More Information

You can download a presentation of the study given at the 2003 steps conference by Zosia Miedzybrodzka from the column on the right. A poster summary is also available to download.