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noonan syndrome

frangelle

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My boyfriends sister has noonan syndrome, which is v. rare, just wondered if anyone was familiar with it, and if it is likely the baby will be born with this condition?
 
I looked it up and in bare bones this is what I came across.

Noonan Syndrome is a relatively common congenital genetic condition which affects both males and females. The principal features include congenital heart malformation, short stature, learning problems, indentation of the chest, impaired blood clotting, and a characteristic configuration of facial features. It is believed that between approximately 1 in 1,000 and 1 in 2,500 children worldwide are born with NS. It is one of the most common genetic syndromes associated with congenital heart disease, similar in frequency to Down syndrome. However, the range and severity of features can vary greatly in patients with NS. Therefore, the syndrome is not always identified at an early age.

Recurrence in siblings and apparent transmission from parent to child has long suggested a genetic defect with autosomal dominant inheritance and variable expression. A person with NS has up to a 50% chance of transmitting it to a child. The fact that an affected parent is not always identified for children with NS suggests several possibilities:

a parent could carry the gene without being affected (incomplete penetrance)
manifestations are variably expressed and could be so subtle as to go unrecognized (variable expressivity)
a high proportion of cases represent new or sporadic mutation.

So although it's not life threatening it is very common to have NS apparently. I think pretty much the baby has a 50/50 chance of having NS syndrome but it might not be a bad inheritance, i.e. slight learning disabilities or not grow quite as tall as class mates etc. Baby might be born without it but remain a carrier and pass it onto his/her children in years to come. Hard to say but from reading it's widely known about and not life threatening etc!

Hope that helps. I don't know anyone with the condition.
 
Thanks hun. It just seems to me it's just luck of the draw i guess. Ah well, bets not to think about it too much x
 
Your welcome, I know it's hard to think about it, try not to. Statistically when people have a 50/50 chance of inheriting the disease they are more likely not to which baffles me why it's then 50/50 and not 60/40 or something I would go on the basis that the baby will be just fine and try to put it out of your mind for the time being xxxxx
 
Well I'm going to have the down syndrome test anyway and hopefully this will show up any genetic abnormalities. Although I can't imagine I'd have the amniotic test because the midwife said the chance of having a miscarriage is much higher than the chance of your baby having down syndrome, so its not worth it.
 
Hi,

A friend of mine at work has Noonans. She never knew as it was barely noticable until her daughter was diagnosed with it and she herself was then tested. She has 3 girls altogether and only the youngest has Noonans. Hope thats of some help to you x
 

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