Marfan syndrome

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Marfan's syndrome

Pectus excavatum

• 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

A physical examination may show:

• Joint laxity (hypermobile joints )
• Myopia (nearsightedness)
• Dislocation of lens (ectopia lentis)
• Malformed cornea (flat)
• Retinal detachment

• 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: 04/20/2005
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.