Hi - Welcome to the group. Many of the characteristics of Noonans
can mimic other genetic conditions. Like for instance our son was
tested for 22Q Deletion as well as Jag1 (Aligile Syndrome). Also
Noonans syndrome is like a hidden condition for so many people.
Mostly because the degree of symptoms can vary so greatly. If you
have decent insurance and it covers it - i would say go for it and
have the tests done.

The biggest thing with Noonans is the type of Heart defect - it is a
Pulmonary Valve stenosis which can involve VSD's or ASD's. The other
big issue with noonans is the muscle thickening in the Heart.
Usually a dead ringer for Noonans. Our son had all of these issues.

Take Care
Christina



--- In noonan_support@yahoogroups.com, "ajtroisi2" <ajtroisi@...>
wrote:
>
> I just joined this group in an effort to learn more about Noonan's
> syndrome, which might be a fit for my daughter. I'm sure many of
you
> here are familiar with trying to figure out what diagnosis is
correct
> for your child.
>
> My daughter is 2 1/2 now, but was born with heart block; something
we
> have learned is very unusual unless the mother has Lupus, which I
do
> not (neither does she, we were both tested). She had a pacer
> implanted at 4 mo, which took care of the heart issue. She also
had
> feeding problems from birth - no dx of reflux was ever made, nor
was
> any damage found in the esophagus, but the symptoms were similar.
> Arching, pain-type reaction to all foods (breastmilk, formula,
> Neocate, etc).
>
> At one point, elevated esopinophils were found in her GI tract and
she
> was dx'd with Eosinophilic Gastroenteritis, but repeated tests
showed
> no elevated eos, so dietary restrictions were lifted with no
harmful
> effects.
>
> FTT was a result of not eating, thus a g-tube was placed at 11
mo.
> She is slowly learning to eat now; still somewhat dependent on the
g-
> tube. Kyra is cognitively typical and has no gross or fine motor
> delays.
>
> She does have clearly defined epicanthic folds and midline facial
> hyperplasia. Additionally, her legs are appearing more "knock-
kneed"
> as she grows (this is on my list of things to ask about next ped
> visit). We did the basic genetic tests and ruled out Turner's and
a
> bunch of other things. The ball is in our court, so to speak, so
I'm
> inclined to ask to test for Noonan's, but hesitate since her
symptoms
> are not severe and apparently the tests only identify something
like
> 50% of the kids with it?
>
> I'm open to any thoughts anyone would like to share.
> Thanks,
> Jennifer
>