Marfans Possible?

[Ken300]

  
My four-year-old daughter just had surgery for a dislocated lens.  We have had two doctors tell us that they do not think she has Marfans and we have ruled out homocystinurina through a blood test. During the surgery the doctor dilated both eyes and he told us that the other eye has the same dislocation pattern. He asked again if anyone in our family has Marfans.  Neither side of our families has it that we know of.  Could it be an anomaly or do you think she has Mafans?  Is there a genetic test to rule it out? or could it be another congenital defect?  Other than the eyes she is healthy.    

[Amaterasu]

Marfan's is a genetic anomoly.  To rule out Marfan's you will have to be seen in genetics.  The workup includes a physical examination, an echocardiogram and an opthalmologist visit.  There is a differential diagnosis that includes other connective tissue disorders and there is no genetic test for Marfan's that can be done from blood or skin.  If she has Marfan's there could be cardiac problems that she has that she doesn't have symptoms of yet.  One of the advantages to early detection is that she can limit her activities and get routine screening so the cardiac risks can be managed.

[elaine49]

Google, National Marfan Organtization or go to John Hopkins marfan clinic online. Look at all of there info including related disorders but you will have to google Ehler Danlos seperately as for some reason it is not listed but is also a connective tissue disorder.  There is also another disorder similar to Marfan's and Ehler Danlos which is called Loeys Dietz Syndrome.  I would recommend looking them up and their symptoms, etc.  They all have to do with weak or fragile tissue/vessels etc that make connections loose thus the problems, etc.  You can look up the genetics clinic at most hospitals and they can refer you to a genetic clinic in your area or further advise you.  Some of the physical traits for these might not show up until later but it would be good now for you to know what to look for as these are all connective tissue disorders.  If one parent has it and you can have it and might not have had it to the extreme that you realize it, then there is a 50% chance of passing it on to your child.  It can also be a rare mutation that occurs if neither parent does have it.

Some of the physical traits: loose joints, bifid uvula or broad based uvula; blue sclerae; translucent or velvety skin; pectus excavatum; scoliosis; extremely long fingers/toes; wingspan greater than height; retina detachment; club feet; cleft palate, etc.  My child doesn't have cleft palate or club feet but she does have several of the other traits and did test positive for LD.  There are varying degrees of this but it would be good for you to find out so that you can help your daughter.  A LOT of DOCTORS don't know squat about these syndromes as they are somewhat rare though I believe we will hopefully be hearing more as people become aware of what to look for etc. so you need to find out for yourself and then look for doctors who either know or are interested in helping.

Good luck.  I hope your daughter doesn't have these things but if she does you need to know so that you can watch and help.  Also, everyone doesn't have the same degrees of these things...so it is not the same for everyone with this.  (for some of these disorders there are physical traits and blood work that can tell you).

E

[devin231]

I agree with E she needs an echo or MRI of her heart to make sure her valves and aorta are all right.  Having Marfa'ns can entail having many of the traits, or just one of them.  She could be a mutant, which means her genes muated and she has the syndrome even if no one else in the family has it.  That's how my Dad got it.  3 of his kids have it.  My brother died of a torn aorta at age 16, in 1982. My sister age 40 is just fine, she's had her mitral valve replaced several times, but nothing else so far, but she does have the pigeon chest.  I, on the other hand, have had more than 15 surgeries, all Marfan related.  Anthing from retina repair, dislocated lenses, scoliosis, mitral valve replacement, pacemaker, to brain surgery, leg shortening, and 6 mo bed rest for a pregnancy.I am the call person for Dallas TX area.on the National Marfan Foundation list.  I had my first call from Fort Worth looking for a doctor familiar with Marfan's.  I'm not finding anyone.  Can anyone suggest a name or names for me to pass on to others?