Originally Posted by Lindsay1234
We haent seen the geneticist yet but the cardio doc says she is "Undiagnosed DiGeorge syndrome".
She has several of the markers for DiGeorge including ToF, hypocalcemia, hearing loss, kidney reflux and a couple others but the test came back negative.
The thing with her is that her face isnt symmetrical. One eyeball is larger than the other and so is one nostril. She has a characteristic DiGeorge ear fold but only on one side and not very prominent. She is hitting milestones and her motor skills are right on track. She doesnt want to eat becasue of an aversion, not because there is something malformed.
Her doc says we are going to treat her as a DiGeorge kid until we can get genetic testing (which is WAY at the bottom of her medial list!)
Connor has facial asymmetry, external and internal (and he has verified DiGeorge/VCFS/22q). His left side is smaller than his right, including his ear, nasal passageway (they thought he had choanal atresia at one point), his ear canal, his ear drum, his lower jaw (he had mild Pierre Robin Sequence), and even his larynx. I don't know if his left eye is smaller, but it is definitely different than his right. He doesn't have characteristic 22q eyes yet, his eyes are big and round, not too almond shaped or hooded (although sometimes I snap a picture of him at just the right angle and they look almond and hooded).
Have you looked into Stickler's or Hemifacial Microsomia? Or CHARGE? Those are other syndromes that come to mind that have facial asymmetry. It's been a while since I've research those, though.
22q has HUGE variability in its presentation, for example Connor has no cardiac involvement (a minor murmur found at 11 months), never had hypocalcemia (that we know of, although we didn't test for it until his diagnosis at 11 months, and sometimes they grow out of that).
Originally Posted by momtoalexsarah
Megans diagnosis is a CLINICAL diagnosis of VCFS (same a DiGeoge - normally a 22Q deletion) Her test has come back negative twice - they didn't belive it the first time. Her heart defect is minor (arotic stenosis at 1 year of age and is now withing proper tolerances) so it has corrected itself. Megan though had mild PRS as an infant and has the more severe form of submucus cleft palate (grade 2 full cleft soft palate and grade 2 submucus cleft of the hard palate) she also has hypertolism, mild hypotonia and mild immune deficency. Megans ears are a little "odd" but not quite typical for VCFS - as she gets older they are starting to cup out a little. She was a little delayed in gross motor, and very delayed in speech(still is as far as articulation -even 9 months post surgury). Her fine motor and cognative are at or above average. I think that as genetic technology gets more advanced they will find other genetic deletions/duplications ect that mimic 22qdel and I firmly belive that they should still allow for a clinical diagnosis of the syndrome even without a positive genetic test. There are many doctors - and parents groups that I've found will not accept a clinical diagnosis - this is frustrating on the part of the parents because we could gain so much knowlege from others with the same symptoms. Especially when this syndrome is treated by treating the symptoms and complications.
This is going to sound like a silly question - but by any chance does your DD have blond hair and blue eyes - this seems to be very common in VCFS kids - my dd is and I personally know of 3 others - and 2 come from familys with darker hair and eyes
Well, you know what Connor looks like...light hair (not quite blonde) and BLUE BLUE eyes, but that comes from me. I know two other 22q kids locally, one is black, one is Lebanese. Both look like their parents, no more fair. All the "official" research claims that heritage means nothing for increasing the chances of the deletion, and that you can be of any race and have it, but I wonder if they'll eventually find that it's more common with certain gene combinations (i.e. if a child picks up a recessive light-skinned gene from both parents, are they more likely to pick up an instability on the 22nd chromosome??) Having said that, though, Connor looks just like my older son, and although we haven't tested our older son, there's no signs of any issues that would prompt us to test.
I'm pretty sure I"m going to have this new baby tested right away, though, because I don't think I'll be calm enough to sleep deeply until I know he's healthy. Connor's newborn stage and infant months were so hard on me, I want to have a picture of this baby's complete chromosomes as soon as possible.