Top
20
Doctor insights on: Marfan Syndrome Genetics Birth Defects

Share
1

1
Could i detect Marfan syndrome before or after birth?

Could i detect Marfan syndrome before or after birth?

Yes, prenatally: Prenatal diagnosis of Marfan syndrome is possible through DNA testing of fetal tissue obtained by chorionic villi sampling or amniocentesis. ...Read more

Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


2

2
Could preimplantation genetic diagnosis or genetic engineering get rid of diseases like Marfan syndrome?

Could preimplantation genetic diagnosis or genetic engineering get rid of diseases like Marfan syndrome?

Yes: An embryo could be tested for the marfan mutation and only implanted if it did not contain that mutation. The same is true for a large number of other autosomal dominant or recessive diseases. ...Read more

See 1 more doctor answer
5

5
Marfan syndrome is a hereditary defect in elastin fibers, what is this?

Marfan syndrome is a hereditary defect in elastin fibers, what is this?

Histology: We are made of muscle, nerve, epithelium and connective tissue - only 4 tissue types! connective tissue is made up of various components. One of them is elastin. In marfans, these are abnormal leading to tissues that are not as strong as they should be leading to weakness in the wall of the aorta and eye (holding the lens) in particular. The syndrome has many other features you can read about. ...Read more

6

6
Do you who has Marfan syndrome also expierence jumping of the eye(s)/like a shiny silver flashing thing in the corners of your eyes?

Do you who has Marfan syndrome also expierence jumping of the eye(s)/like a shiny silver flashing thing in the corners of your eyes?

Maybe: In marfan syndrome, it is possible to have ocular manifestations. The most classic associated eye finding in marfan syndrome is lens dislocation. This can cause visual disturbances. It is important that everyone with marfan syndrome be examined by an ophthalmologist on a regular basis (annual). Retinal detachment also occurs in patients with marfan syndrome. ...Read more

7

7
Does being very tall mean you have Marfan syndrome?

Does being very tall mean you have Marfan syndrome?

Not Necessarily: But it is possible. A visit to the doctor with that question in mind should provide the answer. ...Read more

See 1 more doctor answer
8

8
At what age can you tell a child has Marfan syndrome?

At what age can you tell a child has Marfan syndrome?

Varies: Sometimes a diagnosis of marfan's syndrome can be obvious from birth. In most cases, the features (long fingers and toes, angular face), take longer to see. Sometimes it isn't picked up until the person has an aortic dissection or vision problems the lens of the eye is affected. ...Read more

9

9
Can you tell me the features of the disorder Marfan syndrome?

Marfan's syndrome: It is a broad topic. Difficult to cover here. Please refer to the site: http://en.Wikipedia.Org/wiki/marfan_syndrome. ...Read more

10

10
Could you tell me what are common symptoms of Marfan syndrome?

Could you tell me what are common symptoms of Marfan syndrome?

Quite varied...: Marfan syndrome is an inherited disorder that affects connective tissue. Symptoms can include: tall and slender build; disproportionately long arms, legs, fingers and toes; a breastbone that protrudes outward or dips inward; a high, arched palate and crowded teeth; heart murmurs; extreme nearsightedness; an abnormally curved spine; or flat feet. ...Read more

12

12
I'm worried that I have Marfan syndrome, please help me diagnose myself?

I'm worried that I have Marfan syndrome, please help me diagnose myself?

Build a team: Marfan syndrome is a complex condition that requires a team of experts in genetics, ophthalmology, and cardiology to establish or exclude the diagnosis. A good place to start is with your primary care provider and with some help from the national marfan foundation. Their website has a section written especially for someone like you: http://www.Marfan.Org/marfan/2406/diagnosis#suspect. ...Read more

13

13
Help! Is it possible to have Marfan syndrome with only skeletal abnormalties?

Help! Is it possible to have Marfan syndrome with only skeletal abnormalties?

Very unusual: It is very unusual to have only skeletal abnormalities. The thing about a syndrome is that it is multiple findings that come together to form a certain clinical picture. I can say I've never seen a Marfan case that at least didn't have muscular and connective tissue involvement, and so many have the eye and heart findings as well. ...Read more

14

14
Does Marfan syndrome only affect males?/does Marfan syndrome only affect females?

Affects men & women: Marfan syndrome is autosomal dominant, not sex-linked. About one in 3000-5000 people have marfan syndrome. It affects an equal number of males and females. ...Read more

See 1 more doctor answer
15

15
What are the chances for a man with Marfan syndrome to pass it on to his children?

What are the chances for a man with Marfan syndrome to pass it on to his children?

50% for each child: Marfan syndrome is caused by a mutation of the fbn1 gene on chromosome 15. An affected man (or woman) has one normal and one mutant fbn1 gene in each of his (or her) cells. For each of his children, the chance that he will pass on the mutation is 1/2 or 50%. This pattern of inheritance is called autosomal dominant. ...Read more

16

16
I think I have Marfan syndrome, but i'm not sure if I want to go get checked. Will it affect insurance?

I think I have Marfan syndrome, but i'm not sure if I want to go get checked. Will it affect insurance?

Unknown: The new health care law says that insurers cannot deny insurance for "preexisting conditions". So if this health care law stays in place it will not be a problem. No matter what, if you may have marfan's you need to have it confirmed, and if positive see a cardiologist. With good care, pts with marfan's can have normal lifespan. Without care they can have cardiac problems. ...Read more

See 1 more doctor answer
17

17
Can patients with mild Marfan syndrome build body?

Yes, but...: Marfan as you know designates that you have very loose joints and hyperextensibility. Unfortunately this same flexibility may also apply to your heart valves or large blood vessel--the aorta--just outside the main pumping chamber of your heart. Therefore, you should receive clearance from your cardiologist before doing any serious weight lifting or resistance training traditional for body building. ...Read more

19

19
Why does my Marfan syndrome teenager complain of being giddy?

Worth an Evaluation: Simpler to get them checked out for complications and sleep knowing they are ok. http://www.marfan.org/marfan/2493/. ...Read more

See 1 more doctor answer
20

20
Is Marfan syndrome sex-linked or prevalent in certain ethnic groups?

Is Marfan syndrome sex-linked or prevalent in certain ethnic groups?

Neither: Marfan syndrome affects males and females equally, and the mutation shows no ethnic or geographical bias. Estimates indicate about one in 3, 000 to 5, 000 individuals have marfan syndrome. ...Read more

Dr. Nikolaos Zacharias
841 doctors shared insights

Congenital Abnormalities (Definition)

Abnormalites that are present at birth. Also known as birth defects. For example- cleft palate is a congenital abnormalities. Another example congenital heart disease is the presence of a ...Read more


Dr. Scott McLean
335 doctors shared insights

Marfan Syndrome (Definition)

An inherited connective tissue disorder where body shape is long thin arms hands and fingers and arm length ...Read more