Top
10
Doctor insights on: Marfan Syndrome Pedigree Chart

Share
1

1
What is Marfan syndrome?

What is Marfan syndrome?

Genetic disorder: Of connective tissue that affects many bodily systems.The national marfan foundation has a very nice website that will answer any questions you have about marfan syndrome. Go to www.Marfan.Org. ...Read more

Dr. Scott McLean
327 doctors shared insights

Marfan Syndrome (Definition)

Marfan's syndrome is a genetic disorder caused by defects in a protein called fibrillin that, along with collagen, provides most of the structural support of our tissues. Individuals with Marfan's are often tall, lanky, have long arm spans, and are hyperflexible. The most serious complication of Marfan's is caused by defects in the wall of the aorta, the large blood vessel that leaves the heart and supplies the ...Read more


2

2
What is Marfan syndrome ?

Marfans/ehler danlos: Marfan syndrome is a connective tissue disorder, tissues that strengthen bodies structures. In most cases it is inherited condition, but approx 30% of patients have no family history tall arms and height, affects lungs, heart and aorta, eyes causing cataract, skin problems, and tissue covering the spinal chord. ...Read more

3

3
What causes Marfan syndrome?

What causes Marfan syndrome?

Genetic mutation: Marfan syndrome is caused by a gene mutation (in the fbn1 gene). A mutation leads to defective, weakened connective tissue throughout the body. Symptoms show up in the parts of the body where shape and structural integrity relies a lot on the weakened type of connective tissue. ...Read more

See 1 more doctor answer
4

4
What exactly is Marfan syndrome?

What exactly is Marfan syndrome?

Genetic disorder: Fbn1 gene controls connective tissue metabolism. If there are mutations or repeats, then marfa's will result. The symptoms are the result of malformed collagen. So dislocated lens in eye, heart valve problems, scoliosis, pneumothorax, artery problems may occur. Most cases are inherited, but occasionally marfan's occurs from a spontaneous mutation. This gene can be tested for in a blood specimen. ...Read more

See 1 more doctor answer
5

5
How dangerous is Marfan syndrome?

How dangerous is Marfan syndrome?

Marfan syndrome: affects the body's connective tissue and can cause problems in the eyes, joints, and heart. Marfan syndrome has no cure, but doctors can provide symptomatic management. ...Read more

6

6
How to know if I have Marfan syndrome?

Marfan syndrome: affects the body's connective tissue and can cause problems in the eyes, joints, and heart. Marfan syndrome has no cure, but doctors can provide symptomatic management. ...Read more

See 1 more doctor answer
7

7
How to tell if I have Marfan syndrome?

See the details: If you are tall, have very flexible joints, have any issues with the lenses of your eyes as well as other numerous finding on exam, you may have it. Have your doctor take a look or refer you to a rheumatologist. ...Read more

8

8
Is Marfan syndrome a sex-linked disease?

No: Marfan syndrome is an autosomal dominant connective tissue disorder caused by abnormal microfibrillin protein. If a parent is affected by the disorder, their offspring has a 50/50 chance of inheriting it, regardless of whether the baby is a boy or a girl. ...Read more

See 1 more doctor answer
9

9
Question: what is Marfan syndrome really?

Question: what is Marfan syndrome really?

Www.marfan.org: Fibrillin-1 gene defect leads to inefficient connective tissue building. It is inherited 70% of time. Symptoms occur in any organ that is dependent on healthy connective tissue such as the heart, lungs, skin, eyes. Marfans are tall people with thin narrow face, scoliosis, heart disease, small jaw, spidery fingers, flat feet, abnornal chest bone. You should see your dr if you suspect having it. ...Read more

10

10
What are the symptoms of Marfan syndrome?

Long arms, fingers: Tall, thin appearance. Pigeon chest (pectus carinatum), long fingers (arachnodactyly), dilated aorta (seen on echocardiogram). Dislocated lens in the eye. Severe near sightedness. Scoliosis. Flat feet. High arched palate. Thin head with small cheekbones. Most symptoms involve heart, musculoskeletal and eyes. It is inherited in an autosomal dominant fashion. ...Read more