UCL Great Ormond Street Institute of Child Health


Great Ormond Street Institute of Child Health


Erwin Pauws's research group

Craniofacial Development & Birth Defects

uCT mouse skull

Normal craniofacial development is a precisely coordinated process involving the modelling of a framework supporting the tissues of the head, in particular the brain. Embryonic development of craniofacial structures involve complex signalling mechanisms that regulate cell migration, proliferation and differentiation as well as interactions between different cell populations.

Some of the most common birth defects affect craniofacial structures. Craniosynostosis, a birth defect with an incidence of 1:2500, is characterised by the premature fusion of cranial sutures that disturbs this natural framework. This results in dramatic dysmorphology of the skull and face, sometimes accompanied by several additional functional abnormalities. Clinical and genetic studies have identified multiple forms of human craniosynostosis, and many are associated with mutations within FGF-related signalling pathways. Crouzon syndrome is a form of coronal craniosynostosis and midfacial hypoplasia without malformations in the extremities. Crouzon syndrome makes up to 4.5% of all craniosynostosis patients and mutations in the FGFR2 gene have been shown to be causative.

embryonic mouse skull

Research into these debilitating diseases is carried out by our group, in close collaboration with Great Ormond Street Hospital, as part of a multidiscipliniary research program into craniofacial birth defects.

The main aims of this research are to:

  • Expand the fundamental knowledge on how impaired Fibroblast Growth Factor (FGF) signalling contributes to craniofacial birth defects like Crouzon syndrome.
  • Translate novel findings into relevant, clinical treatment strategies to enhance or replace current approaches for the treatment of craniosynostosis syndromes.

Trachea WT Alcian Blue

CollagenII immuno
Trachea WT Alcian Blue
CollagenII immuno