Marfan syndrome

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Pectus excavatum

Marfan's syndrome

Overview

Symptoms

Treatment

Prevention

Marfan syndrome

Symptoms:

Family history of Marfan 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:

A physical examination may show:

Joint laxity (hypermobile joints )
Myopia (nearsightedness)
Dislocation of lens (ectopia lentis)
Malformed cornea (flat)
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)
Pneumothorax (collapsed lung)

The following tests may be performed:

Echocardiogram
Eye examination
Fibrillin-1 mutation testing (in some individuals)

Review Date: 4/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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