Clubfoot – understanding the genetic and environmental causes

  • University of Aberdeen

  • Clubfoot

  • 1998-2010

The research

syringesIn the UK, around 1000 babies a year are born with clubfoot. The condition leads to deformity of the foot resulting in the child being unable to place the sole of the foot flat on the ground. Either or both feet can be affected. Very little is known about the causes of this problem and treatment can take years and include numerous operations. Surgery can lead to scarring and stiffness and children may still be left with some disability.

The best hope for the prevention and management of this poorly understood, distressing and disabling condition lies in the unravelling of its genetic and environmental basis. Between 1998 and 2010, Sparks funded an Aberdeen-based team led by Dr Zosia Miedzybrodzka, investing over £450,000 into the causes of clubfoot.  At the time, the research grew into the largest international study of clubfoot in the world, with more than 850 participating families.

Achievements

 The research team has made some important findings regarding the causes of this condition. For example, they have found that folate metabolism (how folate or folic acid is processed in the body) is important in the development of clubfoot. The team were also able to firmly dispel suggestions that amniocentesis, a test sometimes carried out during pregnancy at 15 weeks or later, may have contributed to the development of clubfoot.

This pioneering research supported by Sparks has led to several publications and further investigations into the genetics of clubfoot, magnetic resonance imaging of models of clubfoot and parenting a child with clubfoot.

Dr Zosia Miedzybrodzka says “Thanks to the support of hundreds of families, orthopaedic surgeons and funding from Sparks, we are able to undertake research that could change prevention and treatment of this condition in the future.”

Sparks continues to fund vital research into children’s medical conditions. Find out more about our current projects or get involved in our fundraising events today.