Connective tissue disorders..

Hey, Can anyone shed a little bit light on this for me.
My sisters DD has a connective tissue disorder. Apparently she has inherited it from my sister. Im not 100% sure on the details of what sort of things this effects with her DD. But my sister was told, things like having high arches in the foot, a high palate in her mouth, nose bleeds, long fingers/arms & a few other things suggested she carries the gene. Im not sure if she has had bloods or anything to confirm this. Her DD has been diagnosed with a CTD, just not 100% sure if its just been "suggested" that its my sister who carries the gene or she actually has had bloods or what ever to confirm.

Anyway I went googling. I found a list of symptoms that may indicate having a CTD. My 2nd son can tick off a number of them.

Thing is, Im not sure I am suppose to know about my sister as there is a reason why she went to the Dr in the first place which has her going for a biopsy. Mum told me, but seems I didn't already know she said don't say anything as my sister may not want anyone to actually know.

BUT I kinda want/need to know a bit more detail so I can figure out if this is something I need to mention to my GP/Pead re my child.
I sort of thought, ah stuff it I will ring her & ask, but I think the reasons it came up for her are probably a bit sensitive atm so I will leave it for now & ask Mum a few more details tomorrow.

But in the mean time does anyone know anything further that might point me in the direction of what the go is?

not really sure if this helps, but myself and immediate family have traits of a CTD called 'Marfans' my dad and my brothers have had their hearts and eyes tests as it affects the heart and retinas, i slipped through somehow and havent been tested. but we all deffinantly have the traits. things like 'double joints', hyper extensive joints, stretch marks, eye problems, my brother actually has a 30cm difference between his height and his wingspan (his arms are longer than they should be) so much so that he has to get longsleved tops and suits customly made cause normal sleeves go to just below his elbow.
Im not sure how it came about...i think my dads gp discovered it and then the tests etc went from there... im a little dirty i never got tested...i think it was something about me being a chick instead of male...but i dont know, i do know i have the stretchmarks, the hyper extention, i can dislocate my shoulder and pop it back in whenever i want, and the bad eyes...

sorry, this doesnt really help you, maybe ask her if she has been offically diagnosed or if it just the traights are there.

hmmm thats the same sort of things as my sister. Not sure about DS with the height/wing span stuff. But he has nose bleeds, muscle cramps in the calves (which we had put down to growing pains, but they don't really fit "growing pains"), have been to the Dr about them but they couldn't find any reason for them (had xrays, I don't recall bloods being done but maybe he did???). Depression/anxiety was another thing. There was a few others listed that made me think of DS. Might just be nothing but it got me thinking

yea all those things are in my immediate family. im not sure how they actually do diagnosis it either...sorry.

hope you find some answers =)

Tei, if you did want to follow up testing for yourself you can ask your GP for a referral to a genetic counsellor. Marfan can affect both males and females.

FJ, family 'secrets' can be hard to work around. I hope you are able to find out more info, so you can follow up enquiries for your kids.

If the condition is dominantly inherited (this is based on you thinking your niece inherited it from her mum) then you may also carry the gene (if you think your son may be affected)- do you have any symptoms that might be related?

My FIL, FIL's brother BIL and DH all have Marfans. They are all tall (my DH being the shortest at 6'6). DH has the high palate, flat feet, arm span longer than height, big hands, hyper extendable joints etc. BIL has the long face, pigeon chest, muscle problems as well, I think his is more severe as he has to get an ECG once a year. It comes in varying degrees of severity and those with severe Marfans have a certain 'look' about them itms? But there isn't a specific genetic test for it as such. The doctor will just look for certain traits, check the eyes (retinas detatching) and heart (looking for the 'floppy' aorta). DH and all of his family are fine though, it doesn't affect their everyday lives, just something they need to keep an eye on.

DS had some issues with bow legs recently and we took him to the physio where he was diagnosed with hypotonia (low muscle tone, which is also a Marfans trait), the paed checked him out for it and we had to get his heart looked at too. As far as they can tell he doesn't have it. But the paed did say that some children are born with blaringly obvious traits whereas other will develop them over time.

If you are worried it wouldn't hurt to get your son check out...