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Craniofacial Conditions

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Genetic mutations can be identified in about twenty-five per cent of cases, including many of the specific syndromes and also in some children with apparently non-syndromic coronal synostosis. The important genes identified to date are three of the fibroblast growth factor receptors (FGFR1, FGFR2 and FGFR3) and other genes called TWIST1 and EFNB1. Cases with a genetic cause are more likely to recur within the family. Genetic testing is available in the UK at two centres (Great Ormond Street Hospital, London and Churchill Hospital, Oxford).

Prenatal diagnosis
Prenatal diagnosis for craniosynostosis is generally only possible when a specific mutation has been identified.

View How is it diagnosed? How is it diagnosed?  |  Is there support? View Is there support?

Medical text written February 1994 by Dr W Reardon, Senior Registrar in Clinical Genetics, Institute of Child Health, London, UK. Last updated December 2006 by Professor A Wilkie, Nuffield Professor of Pathology, Weatherall Institute of Molecular Medicine, Oxford University, Oxford, UK.

 

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