Wednesday, May 12, 2010

Cleft Lip Gene?

When Kolby was born, I noticed that his nostrils were different sizes.  At first, I just thought his nose was smooshed from his journey through the birth canal.  However, he is almost seven years old,  and his nose has never changed.  One nostril is oval shaped and long, and the other is flat and round.  If you look really closely, and are perceptive enough to pick up on it, one of his white lines, going from nasal to lip (philtral columns), is just a bit off center.


Anyway, we really didn't think much of it, other than that his nose is a bit imperfect.  No biggie.  Besides, Kolby makes the best faces around.  He's really funny to watch. 

Well, it wasn't until after we found out about Kimble's cleft lip, and we kept hearing things about genetics, and we thought that maybe Kolby has some sort of cleft malformation.  We talked with our Cleft Lip Plastic Surgeon about it after Kimble's surgery, and he told us to bring Kolby in when we have Kimble's followup appointment, and that he'd take a look at him.

Today, I took them both in.  Turns out, we were right.  Kolby has a Microform Cleft Lip, which is almost like a cleft that repaired itself in utero.  Pretty interesting.  Kolby has a very mild form, almost as mild as they come.  Another name for it, is Forme Fruste, which means implication of incompleteness, partial presence or aborted state.  The only two hints that Kolby has it, are his imperfect philtral column, and his nostril size deformity.   Here is an official definition:

•Microform cleft (forme fruste): This defect is characterized by a "light" furrow along the vertical length of the lip with a small vermilion notch and minor imperfections in the white roll. A small component of vertical lip length deficiency and associated nasal deformity may be present.

What's to be done?  Absolutely nothing.  Surgically, he is fine.  There is nothing to fix.  The only thing to note, is that we now have two cleft deformities in our family, and this means that genetically, we could be carrying and passing on a specific cleft gene.  This is something that our children should be aware of, when they are having children.  This also makes us an official "family of interest" for a phenotype study that the Cleft Lip/Pallet Team are researching.  We all get to go back to the Children's Hospital to participate in the study, later this fall.  Afterall, two kids out of five is pretty high odds for the same genetic deformity.

9 comments:

Jen said...

That is so interesting. Until you look at him with his face tilted up you wouldn't ever see it. It's such a cute little face. Glad that they don't have to do anything for it.

runningfan said...

Interesting...and a little scary. I bet Kolby loved missing school today! :)

Jen Sue Wild said...

When I was there in Nov I noticed Kolbys nose I rember thinking how interesting, beccause Mylissas nose is very simalar.
I would have never thought a clef lip malformation makes me wonder about Mylissa.

Colleen said...

Wow! That's really interesting! Did you think a year ago that you'd be speaking medicalese with such fluency today? :)

homefront said...

I have noticed his nose since he was born. I did not connect it with a cleft lip either. Umm, you have a cousin 2 times removed with a cleft palate.

Kati said...

That is so interesting. I'm so worried about having other kids. But I'm more worried for my kid's kids. Genetics are so interesting though. Good Luck on the study, keep us/me posted with what you find out.

purejoy said...

wow! that is really interesting findings! (and it resulted in a missing tooth, too!!)
it's funny how it's not until you're dealing with something that you become more aware. kind of like buying a new car. until you're driving, say, a white suburban, you don't notice all of them all over the place (or in the same parking lot as you try to find your car… gah!).
it'll be neat to see what they come up with in the study.
you sure do have some pretty cute specimens in that family of yours!

Maynards said...

What in interesting find! You are a very observant mother. I guess we all are with our own kids, but I never noticed Kolby's nose. It is pretty cute actually.

tia said...

My daughter and her father have the same thing.. pappa's doesn't have the 'scar' line though - his nostrils are asymetrical and he had a malpositioned tooth at that spot.
Our daughter had an extra tooth there too (dentist removed it a year ago, it was as big as an adult back tooth..) and at almost 8 is missing that permanent tooth so far.
Looking in the mirror is the strangest thing, she doesn't look the same. I'm hoping that cosmetically she is okay with it when she ages.. we are in Sweden so unsure how cosmetic surgery works here. We've just been referred to orthdontics already though so that is good.