What is Marfan syndrome?
What is 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.
- 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
Marfan syndrome: Introduction
Types of Marfan syndrome:
Broader types of Marfan syndrome:
How many people get Marfan syndrome?
Prevalance of Marfan syndrome: 1 per 5,000 people are affected by Marfan syndrome worldwide, Genetics Home Reference website
Prevalance Rate of Marfan syndrome: approx 1 in 5,000 or 0.02% or 54,400 people in USA [about data]
Prevalance of Marfan syndrome:
It is
estimated that at least 1 in 5,000 people in the United States have the
disorder.
(Source: excerpt from Questions and Answers about Marfan Syndrome: NIAMS)
Who gets Marfan syndrome?
Profile for Marfan syndrome: Marfan syndrome affects men, women, and children, and has
been found among people of all races and ethnic backgrounds.
(Source: excerpt from Questions and Answers about Marfan Syndrome: NIAMS)
How serious is Marfan syndrome?
Prognosis of Marfan syndrome: Good, with often normal lifespan, but it is a lifelong condition requiring adequate medical care.
Complications of Marfan syndrome:
see complications of Marfan syndrome
Prognosis of Marfan syndrome:
While Marfan syndrome is a lifelong disorder, the outlook
has improved in recent years. Early diagnosis and advances in medical
technology have improved the quality of life for people with Marfan
syndrome and lengthened their lifespan. In addition, early
identification of risk factors (such as aortic dilation) allows doctors
to intervene and prevent or delay complications. Advances being made by
researchers provide hope for the future. With early diagnosis and
appropriate management, the life expectancy for someone with Marfan
syndrome is similar to that of the average person.
(Source: excerpt from Questions and Answers about Marfan Syndrome: NIAMS)
What causes Marfan syndrome?
Causes of Marfan syndrome: see causes of Marfan syndrome
Causes of Marfan syndrome:
Marfan syndrome is caused by a defect (mutation) in the
gene that determines the structure of fibrillin, a protein that is an
important part of connective tissue.
(Source: excerpt from Questions and Answers about Marfan Syndrome: NIAMS)
...
This disorder results
from mutations in the gene that makes fibrillin-1, a protein
important to connective tissue.
(Source: excerpt from Questions and Answers about Heritable Disorders of Connective Tissue: NIAMS)
What are the symptoms of Marfan syndrome?
Symptoms of Marfan syndrome:
see symptoms of Marfan syndrome
Complications of Marfan syndrome:
see complications of Marfan syndrome
Can anyone else get Marfan syndrome?
Inheritance:
see inheritance of Marfan syndrome
Inheritance of genetic conditions: see details in inheritance of genetic diseases.
Marfan syndrome: Testing
Diagnostic testing: see tests for Marfan syndrome.
Misdiagnosis: see misdiagnosis and Marfan syndrome.
How is it treated?
Doctors and Medical Specialists for Marfan syndrome: Cardiologist, Orthopaedist, Ophthalmologist, Geneticist
;
see also doctors and medical specialists for Marfan syndrome.
Treatments for Marfan syndrome:
see treatments for Marfan syndrome
Research for Marfan syndrome:
see research for Marfan syndrome
Organs Affected by Marfan syndrome:
Organs and body systems related to Marfan syndrome include:
Name and Aliases of Marfan syndrome
Main name of condition: Marfan syndrome
Class of Condition for Marfan syndrome: genetic autosomal dominant
Other names or spellings for Marfan syndrome:
Marfanoid hypermobility syndrome, Marfan syndrome type 1, Contractural arachnodactyly, Increased height, long limbs & digits, chest deformity, joint laxity, scoliosis ,thoracic lordosis,a highly arched palate with crowding of teeth, MFS, MFS1
Contractural arachnodactyly, Increased height, long limbs & digits, chest deformity, joint laxity, scoliosis ,thoracic lordosis,a highly arched palate with crowding of teeth, MFS, MFS1, Marfan syndrome type 1, Marfanoid hypermobility syndrome
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)
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