Marfan syndrome

Autosomal dominant connective tissue disease causing abnormalities of fibrillin (a glycoprotein in elastic fibres)

Clinical features

Arachnodactyly (long, spidery fingers)

High-arched palate

Arm span > height

Lens dislocation ± unstable iris

Aortic dilatation (β-blockers appear to slow this)

Aortic incompetence may occur, e.g. in pregnancy

Aortic dissection may cause sudden death—echo screening may be helpful for affected individuals

Diagnosis

Karyotyping

Management

Referral to paediatrician

Betablocker to reduce the risk of Aortic root dilatation

Echocardiogram to look for aortic root dilatation/ Cardiac surveillance

Genetic counselling

Opthalmology referral