Team of specialists can start corrective work soon after birth

Host Amber Smith: Upstate Medical University in Syracuse, New York, invites you to be The Informed Patient, with a podcast that features experts from Central New York's only academic medical center. I'm your host, Amber Smith.

A birth defect that happens when a baby's lip or mouth do not form properly during pregnancy is called a cleft lip or palate.

Here to explain more about who is affected and how this condition is treated is Dr. Arthur Bigsby. He's a maxillofacial prosthodontist (specialist who corrects dental and facial problems) and a member of the Upstate Dental Clinic faculty.

Welcome back to "The Informed Patient," Dr. Bigsby.

Arthur Bigsby, DDS: Hi, Amber. Thanks for having me. It's exciting to be back and to talk about something that's pretty close to the heart here, cleft lip and palate.

Host Amber Smith: Well, let's start with a definition of what that is.

What is cleft lip and palate?

Arthur Bigsby, DDS: Actually, it's one of the most common craniofacial anomalies, and like you said earlier, basically it's when the bones in the palate don't fuse together during birth, or the lip doesn't fuse togetherduring development as a fetus. And it can be either on its own, isolated, just cleft lip and palate, or it can be associated with a greater syndrome, something else systemically in the body going on.

Host Amber Smith: So it could be a symptom of something, or it could just be it, just the deformity.

Arthur Bigsby, DDS: Yeah, exactly. Yes.

Host Amber Smith: Are there different types of cleft palates and lips?

Arthur Bigsby, DDS: Yeah, when you define cleft lip and palate, there's unilateral and bilateral, and then there's complete and incomplete.

And so what that means is, someone can have clefting of the palate that goes from the lip all the way to the back of their throat. So that would mean that it's through the lip, through the hard palate and through -- there's actually a soft palate in the way back of your throat, by where you swallow -- that'd be a complete cleft.

Or they could have an incomplete cleft, where the back of the throat is not part of it.

Also, it could be on one side or on both sides, so unilateral versus bilateral.

Host Amber Smith: So it sounds like some are more severe than others.

Arthur Bigsby, DDS: Yeah, some are more severe than others, and then different types of surgeons actually prefer different types of clefts to repair, interestingly.

In my head, I would think a unilateral cleft, a one-sided cleft, would be easier to fix than a bilateral cleft, both sides clefted, but some surgeons would say it's easy to achieve symmetry, both sides looking the same after the surgery, in a bilateral cleft case, where both sides are cleft, but again, that's more just surgeon-specific preference.

That's not necessarily significant.

Host Amber Smith: Well, how common is it that a baby might be born with this anomaly?

Arthur Bigsby, DDS: Like I said, it's one of the most common craniofacial anomalies, but really, it kind of depends on which population of people you're looking at. So in the U.S., depending on if you're talking about just the lip, or the palate and the lip together, it's about one in every 1,600 to 2,800 live births.

If you've got a cleft lip and palate together, it's less common than just a lip alone. And now, if we're looking at other populations, like maybe the Asian population or Native American populations, it's more common in those populations, so in both the Asian and the Native American populations, it's one in every 700 live births.

And just for some reference, if you were to compare it to Down syndrome, Down syndrome happens in about one in 700 live births. So in those subsets, it's pretty common. Just in the general population, it's less common, but one in 1,600 is still relatively common.

Host Amber Smith: Does it affect boys and girls equally?

Arthur Bigsby, DDS: Lip versus palate is more common in different genders, but it tends to be insignificant in general.

Host Amber Smith: Does this show up in other parts of the world at different rates?

Arthur Bigsby, DDS: Specifically, right now, I think if you were to look at the World Health data, you'd see that in Venezuela and Japan, it's as common as one in every 260 or 250 live births. So that's extremely common.

Environmental factors, as well as genetics, can be a part of the development of a cleft lip or palate.

Host Amber Smith: So do we know for sure what causes it, or do we have some theories about what causes it?

Arthur Bigsby, DDS: We don't know exactly. We know that, like I said, there's environmental factors, so if someone is drinking while they're pregnant, that could be a factor. The timing of when you might be exposed to different environmental factors could affect how the palate's formed.

So the palate is formed between, like, six and 11 weeks, and so if you were to be exposed to certain medications, that might affect the palate forming. Low levels of folic acid have been associated with cleft lip and palate, but then also genetics are a factor here. So there's some, like over 300, genetic syndromes that are associated with cleft lip and palate.

These are things like Treacher Collins (syndrome) or hemifacial microsomia, Pierre Robin sequence. These are different, relatively uncommon, but common in this group of patients' syndromes, so there's a genetic factor.

And then, speaking to the genetic thing, we said that one in every 1,600 or 2,800 live births in the U.S. are cleft lip and palate. So that's like under a 0.05% chance of having a cleft lip. If your family has a family history of it, you have more like a 4% to 5% chance of having a cleft lip or palate, so there definitely is a genetic component. They just haven't isolated specific genes that are associated with it yet.

Host Amber Smith: Are there theories about what might help prevent cleft lip and palate?

I know you mentioned drinking alcohol during pregnancy, so I assume if you avoid that, that might help this. But are there other things?

Arthur Bigsby, DDS: Yeah, so those environmental factors, so yeah, you want to avoid drinking while you're pregnant, smoking while you're pregnant. Generally, vitamin deficiencies, especially when you're pregnant, are not good and could affect development.

Technically, increased age of a mother is linked to different syndromes and linked to cleft lip and palate. But one thing that can help is prenatal, and then throughout pregnancy, folic acid, making sure your vitamins are maintained well.

Host Amber Smith: This is Upstate's "The Informed Patient" podcast. I'm your host, Amber Smith.

I'm talking with Dr. Arthur Bigsby -- he's a member of Upstate's Dental Clinic faculty -- about cleft lip and palate.

So is this a condition that is identified at birth usually, or do we ever know before birth that it's going to happen?

Arthur Bigsby, DDS: That's a great question, Amber.

So it's becoming more and more common to identify it in utero. There's prenatal ultrasounds: That's just where they use sound waves to examine the baby, and you'll see your friends' pictures on Facebook or something of a baby in utero. And so, as early as 13 weeks, a cleft palate could be identified through ultrasound.

But typically they're identified immediately at birth, just through the normal wellness check of a baby when they're born. So they can be identified in utero as early as 13 weeks, but certainly at birth they'll be identified.

Host Amber Smith: When it is identified, is it an emergency?

Arthur Bigsby, DDS: It's not an emergency in that the baby is at an extreme risk when they're born. But it's useful to know that a child has clefting because you can get hooked up with a cleft team, is what they're generally referred to. This is a group of doctors and specialists that treat cleft lip and palate both at birth and then throughout development, into adulthood.

It's also significant because when a kid's initially born, their birth weight typically drops, but in a cleft lip and palate kid, it's not uncommon for them to be diagnosed with failure to thrive or to have their weight drop more significantly than a normal child. And so having the right information for Mom and Dad, as to how to feed, is important, I think, before they're born.

Host Amber Smith: It seems like it would be, eating would be, a challenge, or feeding a baby with a cleft. Are there techniques, I guess, that you have to work with?

Arthur Bigsby, DDS: Yeah, absolutely. So if you just picture the normal oral cavity and how you eat as a child, you need to create negative pressure in your mouth, like a vacuum. And the seal is disrupted in a cleft lip. And if there's cleft palate, the passage down to the stomach is disrupted, and the food can go into the nasal cavity. So there's specific clefting bottles that have extended nipples on them that help to bypass the cleft palate, and they'll also help to create a better seal, so a kid could create negative pressure and consume formula or mother's milk. They can eat it without regurgitation and help to keep weight on.

Host Amber Smith: Now you mentioned a cleft team, and I'm assuming a maxillofacial prosthodontist like yourself is part of that team, but who else is on that team?

Arthur Bigsby, DDS: So yeah, I'm on the Upstate cleft team, and there doesn't necessarily have to be a maxillofacial prosthodontist, but typically there is a dental presence. There's a lot of people. There's surgeons; the surgeons could be from any number of specialties. At Upstate, there's ENT (ear, nose and throat) surgeons, but oral maxillofacial surgeons are also specialty trained in cleft lip and palate. Facial plastics (surgeons) also can be specialty trained in cleft lip and palate. Like we said, there's ENT doctors -- ear, nose and throat: otolaryngologists. The other kind of people that are common to find on a cleft team are some sort of dental specialist, whether it be an orthodontist, which is like the braces doctor; a pediatric dentist, someone who deals with children; or some sort of prosthodontist or maxillofacial prosthodontist. There's also speech therapists, psychologists, social workers, audiologists, nurses, pediatricians.

So the team can be as big as all those specialists on it, or as bare bones as a surgeon, a social worker, genetic counselor, I think there's typically a psychologist and a dental presence on a team and, not to make light of it, but really the most important people on the team are Mom and Dad, because they're the ones that are going to be with the kid 24/7, and they're the ones that are going to have to absorb the knowledge from the cleft team to take home and keep the baby well throughout development.

Host Amber Smith: So how soon does a repair begin?

Arthur Bigsby, DDS: For me, the way a maxillofacial prosthodontist or a lot of trained dental specialists will treat this, it can start within 24 hours of birth, where we are going to pre-surgically mold the cleft into a smaller cleft. So the space between the bone and the lip, we want to make that smaller, so the surgeon has an easier time repairing the lip and the palate.

In surgery, there's a concept of tension. You don't want to have any tension on stitches, and the same is true for bone and lip when you put them together. So if, a dental specialist can mold the soft tissue and the hard tissue to a much closer spot than when the kid's initially born, we can make a surgeon's life a lot easier.

So work can start as early as 24 hours after birth. Surgery, typically the lip is done first, then the palate. And surgery is typically between 3 and 6 months of age -- 12 to 16 weeks is kind of the sweet spot, depending on the severity of the cleft. And then the palate, ideally, is repaired around 12 months or a little bit earlier.

Host Amber Smith: And a lot of this work is based on milestones for the kid. And so in the United States, cleft palate repair, you're trying to be done by a year because you don't want to affect speech. That's why you're trying to repair the palate before they start speaking. And is it typically one surgery, or do they ever have repeated surgeries?

Arthur Bigsby, DDS: No, there can be multiple surgeries, unfortunately. So the cleft lip is isolated around 3 to 6 months. Cleft palate is, again, an isolated surgery, and then after that, typically you're waiting till they're over 2 years of age.

There's a large array of the severity of clefting, and so that affects the number of surgeries and the timing of the surgery. And there's different techniques where grafting can be done at the time of surgery to decrease the need for follow-up surgeries, but it's kind of a patient-specific answer, unfortunately.

Host Amber Smith: So once you make a repair, is it a permanent repair, or might you have to go back and do revisions or something?

Arthur Bigsby, DDS: It's pretty common to need revisions, unfortunately. And so, the cleft lip, if you picture where it is in a patient, it happens where the lateral incisors are. So that's a big word for the teeth just off the middle. You've got the two buck teeth in the middle. Right next to them are the lateral incisors. Those are the ones where the cleft typically goes through that. And so the patient is missing the adult tooth and the baby tooth in that spot.

So, if a patient's going to have, like, a dental implant, for example, to replace that tooth, that wouldn't be done until they're mature: 20 years for a girl, maybe 21, 22 years of age for a male. These surgeries do kind of happen throughout life, whether it be for functional or cosmetic reasons.

Host Amber Smith: Does medical health insurance cover this or does it fall under dental?

Arthur Bigsby, DDS: No, this is a medical health insurance issue. So that's what covers certainly all these initial surgeries, the nasal alveolar molding, which is what I do, where we're moving the bone and the soft tissue together, the surgery from the cleft team. Again, that's all medical because someone's systemic health is being affected.

And then, later in life, when, if someone needs orthodontics, which is braces, or they need implants or teeth to replace genetically missing teeth, that should all be billed under medical insurance. Everything should initially go through medical insurance and then later go through dental insurance if you're trying to get a little more compensation for what you need.

Host Amber Smith: What are the cosmetic results like?

Arthur Bigsby, DDS: When a child's first born with a cleft, if you were to Google this or something, you would see a clear cleft, the space between the lip and the bone, and you'd also notice that if they do have cleft lip, that the nose is typically involved.

The rounded part of the lateral portion of the nose is typically flat in a cleft child. And then the columella, which is the tissue in the middle of your lip above those two buck teeth, that's usually displaced to one side or the other. And so those will look asymmetrical if not repaired.

Like I said earlier, what I try to do, and other dental specialists, is move these soft tissue and hard tissue landmarks into the ideal positions before surgery, to help minimize those cosmetic differences.

The other significant things we talked about, but missing teeth is common in a cleft patient, and so that would be something that's fixed later in life. It could be maybe we call it camouflaged, masked, until they're old enough to definitively change something.

And then finally, soft tissue profile. So the midface, where the nose is, sometimes that will look a little different from the profile view. From the side, it'll look a little bit flatter, like the upper lip, in a cleft patient.

And again, that can be treated a little bit and helped a little bit with the nasal alveolar molding.

Host Amber Smith: You mentioned, implants to replace missing teeth in young adulthood. Are there other implications in adulthood for someone who's born with a cleft lip and palate?

Arthur Bigsby, DDS: If a patient has a complete cleft, meaning it goes, we talked about it earlier, but it goes from the hard palate into the soft palate, they need to get surgery to have that fixed, and the surgery's going to happen, like we said earlier, around a year of age, and they might have more follow-up surgeries.

Every time someone has surgery, they have scarring, unfortunately. And scar tissue doesn't have much plasticity; it's not very elastic, and so that can affect someone's ability to close off the back of their throat when they're speaking. And so you can get hypernasality, or increased air in the nose, when you're speaking. Sometimes someone will have a nasally voice that has a cleft repair. That could be an implication later in life.

Host Amber Smith: Does speech therapy help with any of that?

Arthur Bigsby, DDS: Absolutely. If you're part of a cleft team, generally you're seen annually for follow-up, and that's where a speech therapist will evaluate someone's speech. You might have a swallow study, but probably just speech therapy, and they'll evaluate needs.

And so you might be talking about different exercises to help strengthen the muscles that are needed. It's also not uncommon to need a device, called a palatal lift device, that's made by a dentist or a maxillofacial prosthodontist to help close off that space in the back of the throat so that a seal can be made, and you remove that hypernasality, the increased air up in the nose.

Host Amber Smith: So when you meet with parents who have a child with a cleft lip and palate, what are some of the most important things that you want them to know about or consider from the beginning?

Arthur Bigsby, DDS:

We'll talk about my conversation with the parents.

You don't always have a maxillofacial prosthodontist on the team or someone that does this pre-surgical molding. So if we can identify the cleft before they're born or at birth, and we can speak with the parents, we can talk about getting the patient ready for surgery.

If the parent will buy in on the idea of moving the soft tissue and moving the hard tissue, so they're closer together, to make the surgeon's job easier and to have better cosmetic results and potentially functional results when they're older, it's good for the baby.

And so what that means for the parent is they're going to have to come see me once a week, to adjust a prosthesis that I'll give the baby, that the parents will tape into place, so that we can mold the bone and the soft tissue. And so, my conversation goes like, "We need to see each other weekly to help get your child to the best place we can for surgery." And that's just for 12 to 16 weeks.

After that, everything is back basically to normal. Once these initial two surgeries are done, then a child is going to see the cleft team annually, maybe just every two years for a while. And that's just to make sure everything else is going OK socially -- that's what the social worker will be worried about -- psychologically.

The objective here is to make it so that a kid is not thinking about their cleft or a scar on their lip, and to minimize the clefting, the results of the cleft, the scar, things like that.

Host Amber Smith: Well, Dr. Bigsby, thank you so much for making time for this interview.

Arthur Bigsby, DDS: No problem. Thanks for having me. And one last thing I'll say is, with that conversation with the parents, there's nothing like seeing your child be born. It's one of the most special days of your life. And to have cleft lip and palate affect that day is sad, and it's certainly traumatizing and can be overwhelming for the parent. But if you do buy in on how this cleft team can help you and how we can get you ready for surgery, these first 12 weeks are going to be rough. But this is 12 weeks of investment for the rest of your kid's life. And so I think it's well worth meeting with a team and trying to get the best possible result for your child.

Host Amber Smith: My guest has been Dr. Arthur Bigsby. He's a maxillofacial prosthodontist and a member of the Upstate Dental Clinic faculty.

"The Informed Patient" is a podcast covering health, science and medicine, brought to you by Upstate Medical University in Syracuse, New York, and produced by Jim Howe.

Find our archive of previous episodes at nhfilmexpo.com/informed.

If you enjoyed this episode, please tell a friend to listen, too, and you can rate and review "The Informed Patient" podcast on Spotify, Apple Podcasts, YouTube or wherever you tune in.

This is your host, Amber Smith, thanking you for listening.