Non-invasive 3D Study of Facial Features in Marfan Syndrome Across Ages

What this Trial Is About

This research focuses on Marfan syndrome MFS, a rare connective tissue disorder caused by mutations in the fibrillin-1 gene. It aims to identify and describe the facial features linked to MFS and how these features change over time. The study also explores possible connections between facial shape and key diagnostic signs of MFS, especially in children and adults. The study involves observing patients with MFS, both adults and children, without testing any treatments or interventions. Participants will be grouped based on their age, and their facial morphology will be assessed non-invasively using 3D imaging over an 18-month period. The study will track changes and progression of facial features related to the syndrome. Participants will undergo facial assessments and monitoring to collect data on their facial structure and its development. Researchers will analyze these features alongside other clinical signs of MFS. The main outcome measure is the progression of facial characteristics over 18 months. The study will continue until June 2027, focusing on understanding the disease better through detailed facial morphology evaluation.

Marfan Syndrome (MFS) and Facial Dysmorphism: Non-invasive 3D Assessment