Marfan Syndrome

Genetic connective tissue disorder

Aetiology

• Autosomal dominant mutation of the fibrillin-1 gene (FBN1)

Clinical presentation

Ocular features

• Disocated lens (ectopia lentis)
• Can be in any meridial, classically superotemporal
• Zonules still intact

Other features

• Tall, thin stature

• Disproportionately long limbs compared with trunk

• Arachnoidactoly

• Narrow high-arched ('gothic') palate

• Pectus excavatum

• Dilated aortic root

Signs

Wrist sign

Thumb sign