Top
20
Doctor insights on: About Marfan Syndrome

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
338 doctors shared insights

Marfan Syndrome (Definition)

An inherited disorder that affects connective tissue where one's body shape is long, with thin arms, hands, and fingers, and when the total arm length is greater ...Read more


2

2
How rare is having ehler danlos syndrome?

How rare is having ehler danlos syndrome?

Ehlers-Danlos: The frequency of ehlers-danlos syndrome (all types) has been reported as 1 per 5000 to 1 per 10, 000 in the population. The exact prevalence and incidence of ehlers-danlos syndrome is unknown. Ed is a family of conditions that share a common decrease in the tensile strength and integrity of the skin, joints, and other connective tissues. ...Read more

3

3
What can someone do for hypermobility syndrome / ehlers-danlos syndrome?

What can someone do for hypermobility syndrome / ehlers-danlos syndrome?

Strengthen: Strengthening opposing muscle groups helps stabilize joints. Avoid concussive sporting activities such as tennis, but leap to activities suck as cycycling, ei. Stationary, or road (mtb) bike. But stabilizing your joints with my recommendations, which involved weight or machines is best. (machines are safeest, because your joints are tracked in a specific motion.) hypermobility causes arthritis. ...Read more

See 1 more doctor answer
4

4
What are frey syndrome, horner's syndrome and shy-drager syndrome?

What are frey syndrome, horner's syndrome and shy-drager syndrome?

What do they have in: They all have abnormalities of autonomics and other nervous sytem problems. ...Read more

5

5
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
6

6
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

See 1 more doctor answer
9

9
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
10

10
What is ehlers-danlos syndrome?

What is ehlers-danlos syndrome?

Extreme joint laxity: Ehlers-danlos syndrome is a group of inherited disorders marked by extremely loose joints, hyperelastic skin that bruises easily, and easily damaged blood vessels. ...Read more

11

11
Has anyone heard of ehlers danlos syndrome causes?

Has anyone heard of ehlers danlos syndrome causes?

Genetics: Ehlers-danlos is a genetic condition. There are no other known causes. ...Read more

12

12
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

13

13
What is antiphospolipid syndrome (hughes syndrome)?

What is antiphospolipid syndrome (hughes syndrome)?

Antiphospholipids: An autoimune disorder characterized by antibodies to certain phopholipids that predisposes to clotting problmes and pregnancy complications. A certain percentage will develop into systemic lupus. ...Read more

14

14
What adie syndrome, frey syndrome, and shy-drager syndrome have in common?

What adie syndrome, frey syndrome, and shy-drager syndrome have in common?

What do they have in: They all have abnormalities of autonomics and other nervous sytem problems. ...Read more

15

15
Could I have type 3 (hypermobility) ehlers danlos syndrome or hypermobility syndrome? My parents don't have eds.

Could I have type 3  (hypermobility) ehlers danlos syndrome or hypermobility syndrome? My parents don't have eds.

Unlikely.: Ehlers danlos is an inherited condition, so if it doesn't run in your family, it's very unlikely that you have it. If your joints are unusually flexible you may just be more limber than normal. But if you are worried about it, see your doctor and find out for sure. ...Read more

See 1 more doctor answer
16

16
Is patellofemoral syndrome typically associated with marfan's syndrome?

Is patellofemoral syndrome typically associated with marfan's syndrome?

PFS can happen: Marfan syndrome patients can get aches and pains in many joints because of the looser ligaments trying to hold the joints together at rest and under physical stress. Patellofemoral syndrome is common in normal, active school-aged children, so it is hard to tell whether or not it occurs more often in marfan syndrome kids. ...Read more

See 1 more doctor answer
17

17
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

18

18
Is marfan's syndrome a genetic mutation?

Is marfan's syndrome a genetic mutation?

Yes: Yes it is a mutation in the fbn1 gene on chromosome 15. This gene is responsible for providing the instructions for making a protien called fibrillin which becomes part of microfibrils. Microfibrils are important for providing the strength and flexibility of connective tissue. Connective tissue provides strength and flexibility to bones, ligaments, muscles, blood vessels and heart values. ...Read more

See 1 more doctor answer
19

19
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