Kabuki Syndrome

[Mrslala]

Lennon was seen by a genetic counselor and had a simple genetics test done about a year ago (after her cranio surgery) and we were told they couldn't find anything and it was dropped.

I recently changed hospitals (to Loma Linda) and these doctors are SOOO much better, proacive and seem to honestly care about my children! Anyhow, they took one look at Lennon and insisted that she have more in-depth testing done as they are almost positive that she has a genetic condition. Right now they beleive she has Kabuki Syndrome.

Kabuki is super rare (only 1 in 32,000+ births) so I am having a really hard time finding any info at all. SO I thought I would put it up here just in case anyone else is in the same boat one day.

Also, the cranio does not appear to be related to the Kabuki Syndrome but they're not sure since there are so few cases of it to compare to.

[Jenny]

What are some of the symptoms that the dr's see that they beleive she has this?

[Mrslala]

From what I understand its mostly her eye-shape athough she has a lot of the other symptoms too:

- heart defect
- feeding and texture issues
- hernia
- sacral dimple
- One of her ears has a fold where it should not (it's like a "crinkle", it's really cute!)
- she is just now (she'll be 3 next mont) getting her canines in, her teeth are misplaced (she'll need braces) and some might be missing, they are also unusually shapped (some of them are bumpy or pitted, if that makes sense?)

But she also DOESN'T have some of the major symptoms such as she has average intelligence and she does not have finger pad. So...

[Jenny]

I will see what I can find.. I know that the last three you listed are common in preemies just because they didn't get the chance to fully develop. My sister's niece is like that. She was born at 26 weeks and has all three of those problems. In fact, she's also got the heart defects and hernia as well.. My sister says she has vampire teeth. I hope you can find some answers, but I wouldn't be surprised if it didnt come back with a diagnosis either.

[Mrslala]

Hmm, yea, I see your point. I guess we'll just ride this out and see what becomes of the testing.

[fitmomof2ae]

I've never heard of Kabuki syndrome. Adam has funny shaped teeth too. The dentist mentioned it at his last appt, but he wasn't concerned.

Adam also has a cute indention on top of his ear. It looks like it was pressed up against something in the womb. It's very cute too! We don't have any of the other symptoms.

I'm glad you're happy with your new hospital. Good luck if you decide to move forward with the testing.

[Ava's Mommy]

My daughter Ava has multiple fusion craniosynostosis (BLSS), and her cousin on the DH's side has Kabuki Syndrome. Quite a coincidence to see the syndrome mentioned here... I've sent you a private message so please keep me posted! I have asked our geneticists if there could be a link, but they don't seem to think so. I can't help but wonder though. Thanks very much :)

[craniomommynbaby]

My sister says she has vampire teeth.

Is this out of the ordinary? We have wondered about it because Simon and my baby brother have the same sort of fangs. Those teeth are really pointy on them! My siblings were not born with cranio, but my brothers have some features that make them wonder if they might have inherited whatever syndrome is in our family.