P239: Optimizing diagnostic referrals for Marfan syndrome: Phenotypic risk stratification in the pediatric population
Abstract
Marfan syndrome (MFS) (MIM 154700) is a genetic, multi-system connective tissue disorder primarily affecting the skeletal, ocular, and cardiovascular systems. MFS is caused by heterozygous pathogenic variants in the FBN1 (HGNC:3603) gene, which encodes a structural and regulatory protein called fibrillin-1. A diagnosis of MFS is made based upon distinct clinical criteria, molecular findings (specifically a genetic variant in FBN1), and/or family history of MFS, as described in the Ghent II nosology.
Fields of Study & Subjects
Connective tissue disorders research
Genomics and Rare Diseases
Systemic Sclerosis and Related Diseases
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103733–103733
- Publication date
- 1 January 2026
- Language
- EN