Top
30
Doctor insights on: Marfan And Klinefelter

Share
1

1
Is XXY klinefelter's syndrome related at all to marfan's syndrome?

Is XXY klinefelter's syndrome related at all to marfan's syndrome?

No: The two syndromes have some similar features, but they are different syndromes that are unrelated. Klinefelter syndrome is caused by ahaving at least one extra x chromosome in a person who has a y chromosome (normal male=46 xy, klinefelter=47xxy). Typical Marfan syndrome is caused by a mutation in fbn1, coding for fibrillin-1. ...Read more

Dr. Scott McLean
336 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


2

2
Do you know if XXY klinefelter's syndrome related to marfan's syndrome?

Superficially: Both tend to make the person tall and slender. Neither causes the other. ...Read more

3

3
I heard that abraham lincoln had marfans. Is that why he was so tall and thin?

I heard that abraham lincoln had marfans. Is that why he was so tall and thin?

Controversial: A very controversial subject, but unconfirmed. Individuals with marfan's syndrome have armspans greater than height, which represents the primary diagnostic criteria. ...Read more

5

5
I might have marfan, what should I do?

Med Eval: See your doctor. He or she can determine if you meet the international criteria for diagnosis. ...Read more

6

6
What are the mental traits of Marfans Syndrome?

Well...: From the Psychological point of view, there are no traits specific to Marfan's syndrome.
Please read the following:http://www. Childrenshospital. Org/health-topics/conditions/marfan-syndrome ...Read more

7

7
What is marfan's syndrome and how is it treated?

See below: Marfan 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.

Vision problems should be treated when possible.

Monitor for scoliosis, especially during the teenage years.

Medicine to slow the heart rate may help prevent stress on the aorta. ...Read more

9

9
Is Marfan syndrome preventable?

Is Marfan syndrome preventable?

Sometimes: Marfan syndrome is preventable when the adults who know they have Marfan syndrome thoughtfully choose not to have biological children (50% of their children would have the disease). Some cases are not preventable, such as the 20-30% of Marfan syndrome persons who have the disease from a new mutation (neither parent had a mutation). ...Read more

10

10
Are you at risk for AAA in marfans?

Are you at risk for AAA in marfans?

AAA in Marfans: People with Marfan's have weaker, stretchy walls in their blood vessels which do make aneurysms more common than in people without marfans. ...Read more

11

11
Difference between eds and marfans?

Difference between eds and marfans?

Complications: There are several forms of both. Ehlers-danlos syndrome is often associated with skin hypersensitivity and aortic dissection, dependent on type. Marfans is more associated with joint hyperextensibility, cataracts and sometime aortic dissection. ...Read more

13

13
Does Marfan syndrome skip generations?

No, but.. .: Marfan synd. Doesn't skip generations, but sometimes it's mild enough that the person who seemed to have skipped the disease actually had a mild case of it. Also, it is possible that a child of a Marfan synd. Parent doesn't inherit the mutation (child is normal), but that child's child or grandchild gets a new mutation or marries a mild, undiagnosed Marfan patient... Leading to future Marfan kids. ...Read more

14

14
Does aneuploidy cause Marfan syndrome?

Does aneuploidy cause Marfan syndrome?

Marfan is caused by: A mutation in the fibrillin gene on the long arm of chromosome 15, 15q15-q21.3. Autisomal dominant inheritance with widely variable clinical findings. Aneuploidy is having an abnormal # of chromosomes from a genetic accident during cell reduction (meiosis). ...Read more

15

15
What chromosome is affected by Marfan syndrome?

Chromosome 15: Marfan syndrome is caused by a mutation in the fbn1 gene on chromosome 15. The "address" for this gene is 15q21.1. This gene codes for a protein called fibrillin-1. Inheritance is autosomal dominant. ...Read more

16

16
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

17

17
Would creatine help someone with marfan's syndrome?

No specific benefit: Creatine has been shown to possibly improve performance in short duration high intensity anaerobic efforts. Marfan's syndrome is a disorder of connective tissue--creatine might help you increase the number of reps or speed/power of a specific aerobic exercise but won't have any specific benefit related to underlying marfan's. ...Read more

18

18
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

19

19
Is marfan's syndrome asociated with a shortened life span?

Yes: Marfan's syndrome patients die from complications of aortic valve widening. If this is treated with inderal, (propranolol) progression is slower and patients live longer. In addition, if heart valve surgey is performed electivelly patients live longer. Untrated patients have a life span of 32 years. ...Read more

21

21
How effective is a vitrectomy for treating Marfan syndrome?

How effective is a vitrectomy for treating Marfan syndrome?

Effective: I have attached a study that looked at the success of vitrectomy surgery in people with Marfan's and it had 45 patients with 53 surgeries and listed successful reattachment 86% of the time
http://www. Ncbi. Nlm. Nih. Gov/pubmed/12172108 ...Read more

22

22
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

23

23
I have hypochondria but I think I also have Marfan's syndrome?

I have hypochondria but I think I also have Marfan's syndrome?

Good you can see it: It's good you can admit you have hypochondria. An internist can rule out marfan's if that's your worry. Once it's proven you don't have it, then what? Are you likely to 'develop' a new disorder? If that's you, it's time to see a mental health professional. ...Read more

24

24
Should a person with marfan's syndrome do heavy exercise or no?

No: No, at least not until they have had a thorough cardiology evaluation for aortic valve and coronary artery disease. In addition, these patients have loose ligaments and are prone to frequent sprains and osteoarthritis of their shoulders, elbows, and knees. Spinal scoliosis is also common. A supervised exercise program is recommended. ...Read more

25

25
Extremely scared about having marfan's syndrome and enophthalmos?

Extremely scared about having marfan's syndrome and enophthalmos?

MARFAN'S SYNDROME: Marfan's sysdrome is a cnnective tissue anomally with ocular, skeletal and cardiovascular abnormalities. It is inherited as autosomal dominant. ...Read more

26

26
What is the successful birth rate in women with marfan's syndrome?

What is the successful birth rate in women with marfan's syndrome?

Good: The ability to carry a pregnancy to term is very good but the major risk is to the mother who has had previous surgery for aortic root dilatation. Any pregnancy in a mother with Marfan Syndrome has to be treated with close attention to detail, especially with close monitoring of the aortic root diameter. The delivery should be by the least strtessful method. ...Read more

27

27
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

29

29
Which skeletal diagnostic tests are performed to diagnose Marfan syndrome?

Which skeletal diagnostic tests are performed to diagnose Marfan syndrome?

Several features: Features suggestive of Marfan syndrome include: above-average height, long arms, long fingers, flat feet, high-arched palate, narrow face, crowded teeth, small lower jaw, pectus carinatum (pigeon chest), pectus excavatum (sunken chest), hunchback (hunchback), scoliosis (crooked back), hypermobile/hyperflexible joints, etc... ...Read more

30

30
I have Marfan syndrome. Is there tests that can prolong my life expectancy?

I have Marfan syndrome. Is there tests that can prolong my life expectancy?

An echocardiogram: If you have Marfan syndrome, you should be aware that your cardiologist can use ultrasound to watch for the gradual enlargement of your aorta. Depending on your age, height, and weight, she can determine whether your aorta is growing larger than normal and recommend either medicine, like a beta blocker, or surgery to prevent dissection or rupture of the aorta. ...Read more