Top
30
Doctor insights on: Marfans Syndrome And Autism

Share
1

1
Is there a marfan's-like syndrome that is linked to autism?

Is there a marfan's-like syndrome that is linked to autism?

Not that I know: The only likely association I can think is klinefelter's sydrome. But this is not close. Ks is only in males, they tend to be taller than average (similar to marfan's) and may have motor delays and learning problems (similar to autism). But they usually lack the main features of profound communication and social skills impairment of as. Many/most klindefelter's appear entirely normal. ...Read more

Dr. Johanna Fricke
532 Doctors shared insights

Autism Spectrum Disorder (Definition)

ASD are a spectrum of disorders of varying degrees that are characterized by difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors. Autism statistics from the U.S. Centers for Disease Control and Prevention (CDC) identify around 1 in 68 American children as ...Read more


3

3
What are the mental traits of Marfans Syndrome?

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

4

4
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

5

5
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

7

7
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

8

8
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

9

9
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

10

10
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

11

11
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

12

12
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

13

13
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

15

15
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

16

16
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

17

17
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

18

18
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

19

19
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

20

20
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

21

21
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

22

22
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

23

23
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

25

25
Do people with Marfan Syndrome ever stop growing in height and if so is it about the same time others without the disease stop growing?

Do people with Marfan Syndrome ever stop growing in height and if so is it about the same time others without the disease stop growing?

Yes: There are multiple potential. Abnormalities associated with marfans, such as scoliosis, for example; but they do typically reach skeletal maturity (stop growing) at a similar age as those without marfans. In general, their height is taller than average and they tend to be slender. ...Read more

26

26
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

27

27
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

28

28
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

29

29
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

30

30
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

Dr. Johanna Fricke
643 Doctors shared insights

Autism (Definition)

A neurodevelopmental disorder affecting three areas: abnormal socialization, communication, and restricted interests with repetitive patterns of behavior. It is usually detected in the first two years of life. Cause is unknown but strong evidence points to an interplay between ...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