Marfan's Syndrome

Key points

• Marfan's syndrome is an autosomal dominant connective tissue disorder. It is caused by a defect in the FBN1 gene on chromosome 15 that codes for the protein fibrillin-1. It affects around 1 in 3,000 people. Features
• tall stature with arm span to height ratio > 1.05
• high-arched palate
• arachnodactyly
• pectus excavatum