Craniosynostosis: improving diagnosis and care for children with this rare condition | Children's Charity

Craniosynostosis: improving diagnosis and care for children with this rare condition

Published on 6 October 2016

About 350 children are born with craniosynostosis every year in the UK.1,2 In children with this condition, the bones in the skull fuse together too early, giving the head an abnormal shape and leaving no room for the brain to grow. Children can usually have operations to correct this, but they can be left with some long-term problems. Dr Steve Twigg at the University of Oxford is looking at the genetic causes of craniosynostosis. He hopes this will help to diagnose the underlying cause of the condition earlier, giving families invaluable information, including a clearer picture of their child’s future. 

How are children’s lives affected now?

In babies and young children the skull is made up of several plates of bone. Between the plates there are narrow gaps that allow the skull to grow as the brain develops.

“Once the skull and brain are fully developed the gaps disappear and the plates fuse together” explains Dr Twigg. “In craniosynostosis, this happens too early.”

Children with the condition usually have surgery to correct head shape and make room for the brain to grow. But they can sometimes be left with vision or hearing problems, breathing difficulties or learning disabilities.

There are several genetic conditions linked to craniosynostosis, but in many cases the cause can be difficult to find.

“Parents often want to know what caused their child’s skull abnormality. In most cases a number of factors affecting the unborn baby are to blame, and in about a quarter of children a precise genetic diagnosis can be made through genetic screening” explains Dr Twigg. “But there are many affected children for whom the cause is still unknown.”

How could this research help?

A possible reason for why the cause remains unknown in some children may be that the fault sits in regions of the genetic material (DNA) that aren’t normally screened.

“These regions are called ‘non-coding’ DNA and they are the focus of our work” says Dr Twigg. The team plan to track down new causes of craniosynostosis in patients who do not yet have a specific genetic diagnosis by specifically looking at these regions of DNA.

“Finding the underlying genetic causes means that patients and families can immediately benefit from an accurate diagnosis, giving them a clearer picture of their child’s future” explains Dr Twigg. “This can end a diagnostic odyssey that could have lasted years or even decades.”

Their research could also help to guide surgical decisions and, in the longer term, lead to new treatment approaches.

References

  1. NHS Choices website http://www.nhs.uk/Conditions/Craniosynostosis/Pages/Introduction.aspx [accessed 29/08/2016]
  2. Wilkie AO et al. Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. Pediatrics 2010 126(2):e391-400
Project LeaderDr Stephen RF Twigg BSc DPhil
Project team
  • Professor Andrew OM Wilkie FRS FMedSci FRCP
  • Professor Jim R Hughes BSc DPhil
LocationMRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford
Other locations
  • MRC Haematology Unit, John Radcliffe Hospital, University of Oxford
Duration30 months
Grant awarded21 July 2016
Start date1 August 2016
End date31 January 2019
Grant amount£173,162.00
Grant codeGN2483

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