Marfan syndrome

Introduction: Marfan syndrome

Marfan syndrome: Marfan syndrome is a connective tissue disorder, so affects many structures, including the skeleton, lungs, eyes, heart and blood vessels. The disease is characterized by ... more about Marfan syndrome.

Marfan syndrome: A genetic connective tissue disorder involving a defect of chromosome 15q21.1 which affects the production of the fibrillin needed to make connective tissue. More detailed information about the symptoms, causes, and treatments of Marfan syndrome is available below.

Symptoms of Marfan syndrome

• Tallness
• Thinness
• Skeletal abnormalities
  • Long bones
  • Long fingers

See full list of 60 symptoms of Marfan syndrome

Medical Textbooks Online about Marfan syndrome

Book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.

Less Common Symptoms of Marfan syndrome

• Large ears
• Cataracts
• Retinal detachment
• Glaucoma
• Strabismus

See full list of 19 occasional symptoms of Marfan syndrome

Wrongly Diagnosed with Marfan syndrome?

• Misdiagnosis of Marfan syndrome

Misdiagnosis and Marfan syndrome

Untreated patients of Marfan's die at age 30: Marfan's syndrome is an autosomal disorder of the connective tissues. It affects the connective tissue of the skeletal, ocular and cardiovascular system. The patient is usually tall and thin with long digits, high arched palate and loose joints. He may also present with ocular and cardiac deformities. The diagnosis is based on the family history and co-relating all the findings. Of concern is aortic root dilatation which occurs in these patients and hence an annual echocardiogram is required. It must be discriminated from acromegaly, gigantism, fragile X syndrome and thyrotoxicosis by means of blood investigations. If untreated the patient dies at the age of 30 or 40 years. Genetic counselling for the family is needed....read more »

Read more about Misdiagnosis and Marfan syndrome

Causes of Marfan syndrome

Read more about causes of Marfan syndrome.

Treatments for Marfan syndrome

• Treatments for skeletal abnormalities
  • Orthopedic brace
  • Surgery
• Treatments for eye abnormalities and myopia
  • Eyeglasses

See full list of 12 treatments for Marfan syndrome

Videos for Marfan syndrome

Patient Surveys for Marfan syndrome

• Patient Profile Survey
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• Survey about the symptoms of your Marfan syndrome
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Prognosis for Marfan syndrome

Prognosis for Marfan syndrome: Good, with often normal lifespan, but it is a lifelong condition requiring adequate medical care.

More about prognosis of Marfan syndrome

Reseach about Marfan syndrome

Visit our research pages for current research about Marfan syndrome treatments.

Clinical Trials for Marfan syndrome

The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on ClinicalTrials.gov for Marfan syndrome include:

• Study of Heritable Connective Tissue Disorders - This study has been completed (Current: 23 Nov 2006)
• Manifestations of Heritable Disorders of Connective Tissue - This study is currently recruiting patients (Current: 23 Nov 2006)

Read more about Clinical Trials for Marfan syndrome

Statistics for Marfan syndrome

• Medical statistics for Marfan syndrome
• Prevalence and incidence statistics for Marfan syndrome
• Death and Mortality statistics for Marfan syndrome
• Society statistics for Marfan syndrome

Stories from Users Related to Marfan syndrome

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User Interactive Forums

Read about other experiences, ask a question about Marfan syndrome, or answer someone else's question, on our message boards:

• I can not get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for this?
• See all the forums.

Article Excerpts about Marfan syndrome

Genes and Disease by the National Center for Biotechnology (Excerpt)

Marfan syndrome is a connective tissue disorder, so affects many structures, including the skeleton, lungs, eyes, heart and blood vessels. The disease is characterized by unusually long limbs, and is believed to have affected Abraham Lincoln. (Source: Genes and Disease by the National Center for Biotechnology)

Questions and Answers about Marfan Syndrome: NIAMS (Excerpt)

Marfan syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In Marfan syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, Marfan syndrome can affect many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin, and lungs. (Source: excerpt from Questions and Answers about Marfan Syndrome: NIAMS)

Definitions of Marfan syndrome:

A hereditary disorder of connective tissue characterized by tall stature, elongated extremities, subluxation of the lens, dilatation of the ascending aorta, and "pigeon breast." It is inherited as an autosomal dominant trait. - (Source - Diseases Database)

Marfan syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Marfan syndrome, or a subtype of Marfan syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Marfan syndrome as a "rare disease".
Source - Orphanet