Congenital talipes equinovarus (CTEV), often known as 'clubfoot', is a poorly understood but common developmental disorder of the lower limb, which affects around 2 per 1000 Scottish births. Affected individuals are born with one or both feet turned in and down. 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. Both genetic and environmental factors are important, in contrast with other disorders of development, little is known about specific genetic and environmental risk factors.
Over the last eight years, the Aberdeen Clubfoot Research Group, with SPARKS funding, has established a unique and major collection of DNA samples and questionnaire data from clubfoot cases and their families - the largest such series in the world. We are using different genetic and epidemiological approaches to try to unravel the causes of clubfoot. In the long term we hope our work will help to improve treatment for, or prevent some cases of this common childhood condition.
Current Research
Pregnancy risk factors for CTEV
Importance of folate metabolism in CTEV
Comparisons of CTEV in UK and Netherlands
Studying differences in development of mouse feet in normal mice and mice with clubfoot
Homozygosity mapping in clubfoot families from the Pacific Islands of Vanuatu
Candidate genes and their role in CTEV
Can you help us?
We have closed our collection of DNA samples from families with only one case of clubfoot for the time being. However, we are always interested in receiving DNA samples from families in which there are two or more relatives with clubfoot. If you come form such a family, and would like to help our work by giving a DNA sample, then please contact us at clubfoot@abdn.ac.uk .
People involved in project
Clubfoot Research Group:
Genetics : Zosia Miedzybrodzka, Julie Inglis, Londale Madrigal, Caroline Clark
Epidemiology : Linda Sharp, Amanda Cardy, Nicola Torrance Study nurses: Hazel Hailey, Anne-Marie Fegen
Orthopaedics :
David Chesney, Simon Barker, Nic Maffulli
Administration : Martine Barnes
Collaborators:
Prof J Martin (Royal London Hospital)
Prof C Tickle (Dundee University)
Prof R Hennekam (Amsterdam Medical Centre)
Prof WHI McLean (Dundee University)
Mr Peter Giblin ( AusAid Orthopaedic Outreach)
Dr Santos Wari (Vila Central Hospital, Vanuatu)
Dr James Milburn (NHS Grampian)
Prof D StClair (Aberdeen University)
Mrs Sue Banton and members of STEPS
Mrs Marjolijn Kaminski and members of VOK
The UK Talipes Study:
Involved the co-operation of many Orthopaedic Surgeons at the centres where subjects were based:
Mr. D. Aaron, Consultant Orthopaedic Surgeon, Queen Alexandra Hospital, Paisley
Mr. G. Bennet, Consultant Orthopaedic Surgeon, Royal Hospital for Sick Children, Yorkhill, Glasgow.
Mr. R. Buxton, Consultant Orthopaedic Surgeon, Dunfermline Royal Infirmary, Fife, and at Victoria Hospital, Kircaldy.
Mr. A. Campbell, Consultant Orthopaedic Surgeon, Raigmore Hospital, Perth Road, Inverness.
Miss. P. Costigan, Consultant Orthopaedic Surgeon, Dumfries & Galloway Royal Infirmary, Dumfries
Mr. P. Oroko, Consultant Orthopaedic Surgeon, Hairmyres Hospital, East Kilbride
Mr. J. MacDonald, St Johns Hospital at Howden, Livingstone
Mr. J. MacLean, Consultant Orthopaedic Surgeon, Perth Royal Infirmary, Perth
Mr. M. Macnicol, Consultant Orthopaedic Surgeon, Royal Hospital for Sick Children, Edinburgh
Mr. Matthews, Consultant Orthopaedic Surgeon, Doncaster Royal Infirmary, Doncaster, Yorkshire
Mr. I. McGarrity, Consultant Orthopaedic Surgeon, Inverclyde Royal Infirmary, Greenock
Mr. F. Monsell, Consultant Orthopaedic Surgeon, The Hospital for Sick Children, Great Ormond Street, London
Mr. T R Scotland, Consultant Orthopaedic Surgeon, Royal Aberdeen Childrens' Hospital, Aberdeen
Mr. B. Sharma, Consultant Orthopaedic Surgeon, Law Hospital, Carluke
Mr. A. Swanson, Consultant Orthopaedic Surgeon, Ninewells Hospital, Dundee Consultant Orthopaedic Surgeon, Crosshouse Hospital, Kilmarnock
The Scottish Talipes Register was developed by Professor R Porter (Retired). Information was collated by Kate Craig.
Publications
Miedzybrodzka Z. Congenital talipes equinovarus (clubfoot): A disorder of the hand and not the foot. (Review) J Anat 2003 ; 202: 37-42.
Barker S, Chesney D, Miedzybrodzka Z , Maffulli N. Genetics and epidemiology of idiopathic congenital talipes equinovarus. J Pediatr Orthop 2003; 23: 265-272.
Miedzybrodzka Z, Milburn J, Taun R, Wari S, Giblin P, Sharp L. Genetics of Idiopathic Talipes Equinovarus in the Pacific Peoples of Vanuatu. J Med Genet 2002; 39: S42.
Miedzybrodzka Z, Chesney D, Barker S, Sharp L, Haites N, Maffulli N. The genetic basis of idiopathic congenital talipes equinovarus (abstract) Eur J of Hum Genet 2000; 8 (suppl 1): 70.
Chesney D, Miedzybrodzka Z, Barker S, Sharp L, Haites N, Maffulli N. Facial features in children with idiopathic congenital talipes equinovarus. J Med Genet 2000; 37: S61.
Chesney D, Barker S, Miedzybrodzka Z, Haites N, Maffulli N. Epidemiology and genetic theories in the etiology of congenital talipes equinovarus. Bull Hosp Jt Dis. 1999; 58: 59-64 .
Papers submitted
Sharp L & Miedzybrodzka Z (jt first authors), Cardy AH, Inglis J, Madrigal L, Barker S, Chesney D, Clark C, Maffulli N. The C677T polymorphism in the methylenetetrahydrofolate reductase gene (MTHFR), maternal use of folic acid supplements and isolated clubfoot: a case-parent triad analysis. Submitted Am J Epidemiol
Cardy A, Barker S, Chesney S, Sharp L, Maffulli N and Miedzybrodzka Z. Epidemiology of congenital talipes equinovarus. Submitted Acta Orthop
Funding
Thanks to SPARKS (SPorts Action Research for Kids), BBSRC, Scottish Executive Chief Scientist Office, NHS Grampian, University of Aberdeen, Wellcome Trust and Inverurie Rotary Club for funding different aspects of our work.
