Genetic Disorders Expert Forum
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Questions in the Genetics Forum are being answered by medical professionals and experts. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Ashkenazi Jewish Diseases, Bleeding Disorders, Blood Clotting Disorders, Cancer Genetics and Hereditary Cancer Syndromes, Chromosome Abnormalities, Congenital Birth Defects, Cystic Fibrosis, Family History, Fragile X Syndrome, Infertility, Newborn Screening, Rare Genetic Disorders, Prenatal Screening and Testing.

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Hello I was wondering if you could help me.  I was told to see a genetic specialist.  I was at one doctor for some medical issues of my skin and hair, he noticed that my fingers and toes seemed long to him.  I have always had loger fingers and toes.  I am about 5ft 7 1/4 inches tall.  I do not have loose joints, my feet have an arch and are not totally flat, I am farsighted but no need for glasses.   He did an echo and I do have a mild mitral valve prolapse.  I am very concerned now about Marfans disease and wondering if you can help me understand what the genetic specialist is going to be asking me or offering me when I see her?  I have no idea what to expect.

As for family history - my moms side has good height and long life - I have never heard of this disease I am 39 years old and have 3 healthy children.  My fingers are long but im confused by the hand wrist test and does that mean that with a murmer and long fingers that my chances of having this are very high?  Mom died at 56 of cancer and father is 78 and never had any real health issues.

Thank you so much for your help.  I've been not able to sleep now worried about this.  Please help me as to the other sings to look for.
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It is important to have a complete exam specific for Marfan syndrome to completely rule out or diagnose the condition.   A medical geneticist would be the appropriate type of physician to perform a complete exam, so it is good to hear that you will be seeing a geneticist.    

As you know, Marfan syndrome is a connective tissue disorder that affects many parts of the body including the eyes, skeleton, heart, and blood vessels.   As part of the work-up, people often see an ophthalmologist who performs a slit-lamp examination, looking for lens dislocation.  You mentioned that you had an echocardiogram.  You may want to request a copy of that report to see if your aorta was measured.  If not, then an echocardiogram with a measurement of the aorta is typically ordered as part of the evaluation for Marfan syndrome.  There are very specific diagnostic criteria used to determine if someone has Marfan syndrome.  It is not possible to determine your risk without an exam and a complete family history.  

At your appointment, the geneticist will take a detailed medical and family history.  The geneticist will perform a physical exam taking many measurements, such as length of your arms in comparison to your height.    The information from the exam, echocardiogram, ophthalmology appointment and medical and family history are generally used to make or rule out the diagnosis of Marfan syndrome.  If someone is diagnosed with Marfan syndrome, the geneticist and sometimes a genetic counselor provide information about the syndrome, discuss screening and management, implications for family members and provide support in adjusting to the diagnosis.

Marfan syndrome runs in families in an autosomal dominant manner.  This means that someone with Marfan syndrome has 50% chance of passing this condition on to each child he or she has.  Inheritance is not affected by gender.  

Another good source of information about Marfan syndrome is the National Marfan Foundation (1-800-8-MARFAN ext 10).  I hope that this information is helpful to you.
Hi and thank you so much for taking your time to respond I appreciate it.

Ok I have a copy of the echo and the aorta was measured in many places and it states aorta 2.5cm - it says the echo is normal with the exception of MVP with 1+ regurgitation.  I had my eyes examined with a slit lamp and everything about 45 days ago because I have begun plaquinel for hair loss and scalp inflammation.  She gave me the "ok" for the plaq and did not mention finding anything abnormal.

I have not had eye problems, my joints are sore at times but stiff and sore.  I did not know about the MVP until last week.

I know you can in no way diagnose on the internet.  But just via your experience with this condition is it uncommon for one to hit age 40 with no real major issues ever and still have this?  Or would it be more likely that one would have something occur prior to 40 to signal a marfan issue?

Again I know you cannot give me a diagnosis but I guess I am wondering just from experience and knowledge about this disease does it typically present with something not right by mid life?

Thanks again for your time.
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