Marfan's syndrome (patient information)

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Marfan's syndrome
Overview
What are the symptoms?
What are the causes?
Diagnosis
When to seek urgent medical care?
Treatment options
Where to find medical care for Marfan's syndrome?
Prevention
What to expect (Outlook/Prognosis)?
Possible complications
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Directions to Hospitals Treating Marfan's syndrome
Risk calculators and risk factors for Marfan's syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Aditya Govindavarjhulla, M.B.B.S. [2]

Overview

Marfan's syndrome is a disorder of connective tissue, the tissue that strengthens the body's structures. Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin.

What are the symptoms of Marfan's syndrome?

• People with Marfan syndrome are usually tall with long, thin arms and legs and spider-like fingers -- a condition called arachnodactyly. When they stretch out their arms, the length of their arms is much greater than their height.
• Nearsightedness
• Learning disability

What causes Marfan's syndrome?

Marfan's syndrome is caused by defects in a gene called fibrillin-1. Fibrillin-1 plays an important role as the building block for elastic tissue in the body.

The gene defect also causes too much growth of the long bones of the body. This causes the tall height and long arms and legs seen in people with this syndrome. How this overgrowth happens is not well understood.

Other areas of the body that are affected include:

• Lung tissue
• The aorta, the main blood vessel that takes blood from the heart to the body may stretch or become weak (called aortic dilation or aortic aneurysm)
• The eyes, causing cataracts and other problems
• The skin
• Tissue covering the spinal cord

In most cases, Marfan syndrome is inherited, which means it is passed down through families. However, up to 30% of cases have no family history. Such cases are called "sporadic." In sporadic cases, the syndrome is believed to result from a spontaneous new gene defect.

Diagnosis

Physical exam

Physical examination findings include

Head

• Thin, narrow face
• Highly arched palate and crowded teeth
• Small lower jaw (micrognathia)

Eye

• Defects of the lens or cornea
• Retinal detachment
• Vision problems

Heart

• Aneurysm
• Collapsed lung
• Heart valve problems

Extremities

• Hypotonia
• Flat feet
• Joints that are too flexible

Others

• A chest that sinks in or sticks out -- funnel chest (pectus excavatum) or pigeon breast (pectus carinatum)
• Spine that curves to one side (scoliosis)