Marfan's syndrome

Symptoms:

• family history of Marfan's syndrome
• long, lanky frame
• long, thin limbs
• armspan significantly greater than body height
• long, spidery fingers (arachnodactyly)
• funnel chest (pectus excavatum) or pigeon breast (pectus carinatum)
• scoliosis
• visual difficulties
• flat feet
• learning disability/school problems
• thin narrow face
• micrognathia (small lower jaw)
• coloboma of iris
• hypotonia

Signs and tests:

Physical examination may show:

• joint laxity (hypermobile joints)
• myopia
• dislocation of lens (ectopia lentis)
• malformed cornea (flat)
• blue sclera
• retinal detachment

There may also be signs of:

• dilated aortic root
• aortic regurgitation
• dissecting aortic aneurysm
• mitral valve prolapse
• other aortic aneurysms (thoracic or abdominal)