PhD defence V.L. (Victor) van Roey

Below is a brief summary of the dissertation:

In this thesis, we aimed to improve the care for people with congenital craniofacial conditions (i.e., anomalies of the head and/or face present at birth) in Europe, focusing on unilateral cleft lip and palate (UCLP), Treacher Collins syndrome (TCS), and Miller syndrome. These conditions are all considered rare, but they still differ in how many people they affect and in the complexity of their treatment.

For UCLP, we reviewed and compared different surgical approaches for treatment, finding that early closure of the hard palate can lead to better speech outcomes, fewer oronasal fistulas, and less need for additional surgery. We also found that healthcare costs of these approaches are relatively similar, so choosing a surgical approach should be guided mainly by clinical outcomes. For TCS, we worked with experts to create the first framework for optimal diagnosis and treatment, aimed at improving treatment and standardizing care across multiple countries. We also developed a European registry to collect information on TCS, promoting future research and further improvement of care. Finally, we investigated Miller syndrome, one of the rarest craniofacial syndromes, to understand its unique features and how it differs from similar conditions, such as TCS.

Overall, our findings highlight the importance of multidisciplinary care and international collaboration, helping to reduce undesirable variations in treatment and improve outcomes for these rare congenital conditions in Europe.