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Marfan Syndrome

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by

Ralpheal Inge

on 17 October 2013

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Transcript of Marfan Syndrome


What Gene or Chromosomes is affected by this order??
The gene that is affected by Marfan Syndrome is FBN1
Are there prenatal test for this disorder??
There is a prenatal test uses Chorionic Villus sampling (CVS) which is taking a small sample of placenta from the womb
What are the symptoms??
What population is affected by this disorder? Can anyone be a candidate for this disorder?
There is no specific population affected , but everyone is a candidate for Marfan Syndrome
Will assistance be required as the child grows older??
If they will need assistance is depened on how severe there case is
How is it inherited?
Marfan Syndrome is a dominant trait
What kind of medical assistance will the affected individual need?
They will need multiple surgeries, Beta Blockers (slow down heart beat), bone and joint treatments, eye treatments, and lung & nervous system treatments
What is the long-term outlook for the child?
Heart & blood vessel problems, eye problems, and of course connective tissue problems
Are there any treatments or cures?
Beta blockers, glasses, and surgery but they are only short term solutions
Could this disorder have been prevented? How?
There is no known way that Marfan Syndrome could have been prevented
Based on Jim Harvey's speech structures
Marfan Syndrome

Created by: Ralpheal Inge
What Is Marfan Syndrome??
What other names are there for Marfan Syndrome?
Marfan Syndrome is a common inherited disorder of connective tissue. Mutation of FBN1 gene. It also can be a mutation. A disorder of connective tissue that is inherited as a dominant trait and is characterized by abnormal elongation of the long bones.
A known abbreviation of Marfan Syndrome is MFS
The cause of Marfan Syndrome is mutation (de nova) or inherit the FBN1 gene
What is the cause of the disorder?
Skeleton: very tall, slender, loose-jointed, long bones are longer than usual
eyes: lenses of the eye are dislocated
heart & blood vessels: the vessels might stretch and become weakened also some valves might leak
nervous system: the brain and spinal cord are surrounded by a membrane called the dura
T I
T


I
TT TI
TI II
T= Marfan
I= Regular
Can this individual have children in the future?
Yes but at a serious risk of aortic dissection
Will there child be affected?
It depends on the genetic makeup of the parents
What is the current status of the research on this disorder?
Scientist are working on solving these questions: How does the defect occur? How it affects people differently? How genetic mutation changes the development of connective tissue.
Could there be a cure coming soon?
No only more surgeries for those who have Marfan Syndrome
Full transcript