Details of a Genetic Counselor

The minimal degree for a genetic counselor is a masters degree.  A person should study biology, chemistry, algebra, geometry, calculus, English, foreign language, sociology if they want to become a genetic counselor.  The job growth of genetic counselors is rising from 14 to 20%.  Genetic counselors usually make around $60,000 annually.

Science Careers: Genetic Counselor." Science Fair Project Ideas, Answers, & Tools. Web. 12 Mar. 2011. <http://www.sciencebuddies.org/science-fair-projects/science-engineering-careers/Genom_geneticcounselor_c001.shtml>.

How does a person inherit this genetic disorder? Is it dominant or recessive? Is it genetic or chromosomal?

A person can either inherit this disorder from their parents or have a mutation.  Marfan Syndrome is autosomal dominant meaning that if one parent has the disease than there is a high possibility of the child being affected. Marfan Syndrome is also chromosomal, the 15th chromosome is the one affected.




"Inheritance and Genetics of Marfan Syndrome - WrongDiagnosis.com." Wrong Diagnosis. Web. 12 Mar. 2011. <http://www.wrongdiagnosis.com/m/marfan_syndrome/inherit.htm>.

Chromosomal mutation of a Marfan Syndrome patient

25% of affected individuals are affected by a new mutation, the other 75% get the mutated gene from their parents.  This mutation is a mutation in the fibrillin-1 gene located on chromosome 15.  This gene encodes for the glycoprotein fibrillin, a major building block for microfibrils, which serves as a substrate for elastin in the aorta and other connective tissues.  Deficient fibrillin causes reduced structural integrity of the ligaments, spinal dura, lung airways and dilation of the aorta.



Chen, Harold. "Genetics of Marfan Syndrome." Emedicine. Web. 12 Mar. 2011. <http://emedicine.medscape.com/article/946315-overview>.

How prevalent is Marfan Syndrome in the population

About every one in ten-thousand persons in the world have Marfan Syndrome.  It is one of the most common single gene malformation syndrome.  There are a few famous people with Marfan Syndrome including Abraham Lincoln and Mary Queen of Scots.



Chen, Harold. "Genetics of Marfan Syndrome." Emedicine. Web. 12 Mar. 2011. <http://emedicine.medscape.com/article/946315-overview>.

The chances of a person with this disease passing the disease to their child

If you are affected with Marfan Syndrome you have a 50% chance of passing the affected trait to your children.  Meaning if Mike is affected with Marfan Syndrome than his son, Will, has a 50% chance of getting Marfan Syndrome.  Women and men are affected alike, this trait is not x-linked.



"Marfan Syndrome Causes, Fibrillin Protein." National Heart, Lung and Blood Institute. Web. 12 Mar. 2011. <http://www.nhlbi.nih.gov/health/dci/Diseases/mar/mar_causes.html>.

"Marfan Syndrome." KidsHealth - the Web's Most Visited Site about Children's Health. Web. 12 Mar. 2011. <http://kidshealth.org/kid/health_problems/birth_defect/marfan.html#>.

How Marfan Syndrome is diagnosed

Marfan Syndrome is diagnosed by many doctors because it affects many parts of the body, a geneticist (gene doctor), a cardiologist (heart doctor), ophthalmologist (eye doctor), and an orthopedist (bone doctor).  The geneticist looks to see if there has been any family history of Marfan Syndrome, because this disorder is inherited.  A cardiologist will see if the patient has any heart problems, one of the main affects of Marfan Syndrome is dilation of the aorta (part of the heart).  The ophthalmologist will then check for any lens dilations and any other abnormalities.  The orthopedist will check for curves in the spine, indentions of the chest, joint problems and flat feet.  Diagnosing for Marfan Syndrome is very strict, most of the affects can be found in many people.  If the person has a family history and has many of the symptoms they will be diagnosed.



"Marfan Syndrome." KidsHealth - the Web's Most Visited Site about Children's Health. Web. 12 Mar. 2011. <http://kidshealth.org/parent/general/eyes/marfan.html#>.

Physical Symptoms of Marfan Syndrome

The major symptoms of Marfan Syndrome include the person having a tall, thin build, long arms, legs, fingers, toes and flexible joints, scoliosis (curving of the spine), pectus excavatum (sinking chest), pectus carinatum (rising chest), crowded teeth, and flat teeth.



"Scoliosis, Pectus Excavatum, Pectus Carinatum, Crowded Teeth, Flat Feet." National Heart, Lung and Blood Institute. Web. 12 Mar. 2011. <http://www.nhlbi.nih.gov/health/dci/Diseases/mar/mar_signsandsymptoms.html>.

Life expectancy of someone with Marfan Syndrome

Someone affected with Marfan Syndrome has a life expectancy of about 72 years.  This number is so high due to recent discoveries about treatment for Marfan Syndrome.




"BBC - H2g2 - Marfan Syndrome." BBC - Homepage. Web. 12 Mar. 2011. <http://www.bbc.co.uk/dna/h2g2/A3065140>.

Treatment for Marfan Syndrome

There are many different types of treatments for Marfan Syndrome.  For skeletal abnormalities you can get an orthopedic brace or surgery.  As for abnormalities of the eye and myopia you can wear eyeglasses, contact lenses or have eye surgery.  Treatments for the heart include beta-blockers, or heart surgery.  Treatments for the mental effects are mental therapy and genetic counseling.



"Treatments for Marfan Syndrome - WrongDiagnosis.com." Wrong Diagnosis. Web. 12 Mar. 2011. <http://www.wrongdiagnosis.com/m/marfan_syndrome/treatments.htm#treatment_list>.

The quality of everyday life of a Marfan Syndrome patient

One of the hardest everyday activities of a Marfan patient is finding something to wear.  An individual affected with Marfan Syndrome has elongated features making it hard to find fitting pants.  If they buy a pair that actually fits length wise than it probably will not fit their waist because they are also very skinny.  Marfan patients also feel a lot of bodily pain on an everyday basis.  People with Marfan Syndrome do not have very good mental health and suffer from that as well.



Cortese, Janis. "Marfan Syndrom: Life and Issues Surrounding This Genetic Disorder." Web. <http://www.io.com/~cortese/marfan/index.html#top>.

Limitations of Marfan Syndrome

People with Marfan Syndrome are not supposed to play active team sports or lift heavy objects.  In order to reduce the risk of injury of the aorta, an affected Marfan Syndrome patient should avoiding contact sports or stressful exercise.



"Marfan Syndrome." Web. 12 Mar. 2011. <http://www.chw.org/display/PPF/DocID/23070/router.asp>.

Organizations that can help a family cope with a child's disorder

http://www.marfan.org/marfan/ ----National Marfan Foundation

http://www.marfanworld.org/---International Federation of Marfan Syndrome Organizations

http://www.mayoclinic.com/health/marfan-syndrome/DS00540---Mayo Clinic on Marfan Syndrome

http://www.clevelandclinic.org/lp/heart-marfan/marfan_lp.html?utm_campaign=CS+-+Heart+-+DR+-+Marfan&utm_medium=cpc&utm_source=bingppc&utm_term=marfan%27s+syndrome&002=2156527&004=262898643&005=5021480335&006=175165856&009=p&011=marfan%20syndrome%20therapy---Cleveland Clinic

How possible is it that a cure will be found for Marfan Syndrome?

Scientists have not yet found a cure for Marfan Syndrome.  Although there have been many scientific discoveries involving Marfan Syndrome, that have increased the average life expectancy there is no cure.  Marfan Syndrome affects the same gene for everyone but it has a different effect for different people.  This is known as variable expression, and scientists do not know why this occurs yet.  In conclusion, finding a cure for Marfan Syndrome is not likely.





Cortese, Janis. "Marfan Syndrom: Life and Issues Surrounding This Genetic Disorder." Web. <http://www.io.com/~cortese/marfan/index.html#top>.