Marfan Syndrome and Facial Dysmorphism Non-invasive 3D Facial Assessment Observational Study

What this Trial Is About

Marfan syndrome (MFS) is a rare connective tissue disorder caused by mutations in the gene for fibrillin-1. These mutations affect connective tissue throughout the body and lead to various clinical symptoms that can appear from birth to adolescence. This research aims to identify and describe the unique facial features linked to MFS and how they change over time, as well as to explore connections between these facial traits and other diagnostic signs of the syndrome. The study uses non-invasive 3D imaging to assess facial morphology in individuals with MFS, focusing on typical facial characteristics such as dolichocephaly, down-slanting eyelids, malar hypoplasia, and retrognathia. By analyzing these features, researchers hope to better understand facial dysmorphism in pediatric patients and its progression, filling gaps in current knowledge about how these facial traits relate to the overall disease. Participants will undergo detailed facial evaluations over an 18-month period to monitor disease progression. Researchers will collect data on facial shape changes and compare them with standard diagnostic criteria for MFS. This observational study involves tracking these features over time to improve early diagnosis and understanding of the syndrome's facial aspects.

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