There are several hundred distinct craniofacial conditions that affect the face, skull, jaw and ears. Among them are hemifacial microsomia, Pierre Robin syndrome, Treacher Collins syndrome, non-syndromic craniosynostosis, and syndromic craniosynostosis, which includes Apert syndrome, Crouzon syndrome, Muenke syndrome, Pfeiffer syndrome and Saethre-Chotzen syndrome.
In this video series, experts from The Children’s Hospital of Philadelphia (CHOP) and patient families talk about the diagnosis and treatment of craniofacial conditions. Learn more about the surgical treatment options and multidisciplinary care available to patients through CHOP’s Craniofacial Program.
Diagnosis and treatment of craniofacial conditions
Explaining craniofacial conditions
Oksana Jackson, MD: I’m inspired by the fact that they’re normal kids. They’re running around the rooms laughing. They’ve got friends, and sports, and social activities.
Scott Bartlett, MD: The things that we can do positively in the life of a young person can influence them for the rest of their life.
Jesse Taylor, MD: The overwhelming majority of our patients lead very healthy, very, really normal lives.
Scott Bartlett, MD: There’s probably in the range of somewhere in 1 in every 2,000 birth with craniofacial anomalies. They’re basically deformities involving the facial structures or cranial structures, or both. And by that we mean the skull, the brain, the eye sockets, the nose, the upper jaw, the lower jaw, the mouth, and the ears and hearing apparatus. So it can be an involvement of any of those or all of those.
You’re talking about several hundred distinct craniofacial syndromes. There’s 10 or 15 that are the most common of those that we see. Like craniosynostosis, hemifacial microsomia, and so forth. They go from more mild to more severe along that spectrum. And these are fairly rare disorders. So in order to get experience in one type of disorder, you have to see a large number of patients over a number of years.
Jesse Taylor, MD: We see 40 to 50 new kids with craniosynostosis a year; 10 to 12 kids per year with the new diagnosis of hemifacial macrosomia; 200 to 300 kids a year in the craniofacial team. And so when someone comes to me see or one of my colleagues, they’re getting somebody who’s doing this day in and day out.
Scott Bartlett, MD: For many of these children, they’re diagnosed at birth or soon after, based on their appearance. It’s important that the baby get expert care immediately. Some children with craniofacial conditions have airway problems, which may cause trouble breathing. Some have other medical issues. CHOP has a specialized team to care for these babies in our Neonatal Intensive Care Unit, including some of the best pediatric ear, nose and throat specialists in the world.
It’s also important to note that a growing number of craniofacial patients are diagnosed before birth.
Oksana Jackson, MD: We are seeing more and more patients prenatally. Once they receive a diagnosis, then we get involved.
Nahla Khalek, MD, MPH: It’s always coming off the experience of their ultrasound and wanting to figure out if it’s a boy or if it’s a girl. That initial hope, excitement and joy then gets replaced with anxiety, and fear about the future for their unborn child.
Oksana Jackson, MD: Meeting families prenatally really helps educate them and helps them understand so that when we meet them after delivery, they are a little better prepared.
Nahla Khalek, MD, MPH: The Garbose Family Special Delivery Unit is a labor and delivery suite that is specifically dedicated to caring for pregnant women carrying fetuses with malformations.
Oksana Jackson, MD: Patients have immediate access to all the specialists they may need. That care is right there as soon as the baby is delivered.
Surgery and treatment for craniofacial conditions
Scott Bartlett, MD: Children with craniofacial conditions frequently need a series of operations over their lifetime. In some children we have to rebuild the jaws, and we do that with bone grafts taken from the rib or from the lower leg. Oftentimes, we create an entirely new ear by taking cartilage from the rib.
In children that have less severe deformities, frequently it’s a matter of just taking the existing bone structure and cutting it, and shifting it, or elongating it. What your child will need will depend upon his age and degree of deformity, and the team with tailor the treatment for your child.
Jesse Taylor, MD: Oftentimes kids with craniofacial anomalies have other problems that don’t have to do with the head and neck. So a heart problem, or a spine problem, or an intra-abdominal problem, like a kidney problem.
Scott Bartlett, MD: The beauty of being at a place like CHOP is that we have people here that can take care of hearts, and lungs, and hands, and feet, and brains. We have some of the best pediatric neurosurgeons in the world here at CHOP, and they play a really crucial role in some of our most complicated craniofacial surgeries.
Jesse Taylor, MD: So we can do big, complex surgery because we know that our colleagues who are going to take care of patients are just the best.
We’re always trying to advance care here at CHOP to move the field forward. We’re doing bone tissue engineering, using stem cells so that someday we won’t have to borrow bones from other places in kids’ bodies to recreate, perhaps, a jaw or part of the crania bone.
Cynthia B. Solot, MA, CCC/SLP: You have the most innovative research and treatments here.
Meg Ann Maguire, RN, MS, CRNP, CPNP: Surgeons who are the ones writing the research, and writing the textbooks, at the same time performing this amazing surgery to help these children.
Cynthia B. Solot, MA, CCC/SLP: People come here from all over the country. They come here from all over the world.
Stephen Len, Father: Yeah, you have some incredibly talented professionals. All really cutting edge at what they do.
Jennifer Len, Mother: So much is lifted off of your shoulders knowing that they’re in good hands with amazing people here at CHOP. And it definitely, it definitely helps.
Craniofacial conditions: A team approach to care
Jesse Taylor, MD: There’s challenges that I see in dealing with pediatric craniofacial anomalies. What may be present today when I’m 4 years old is going to be different when I’m 7 and when I’m 13 and 15. Not only am I growing and the inherent growth qualities of various parts of the face are going to be different at those different ages, but also, things that are happening in my life change. The doctor is going to treat each patient through to maturity. Which I think is a really nice thing for families. You get to develop a really deep relationship with each other.
Scott Bartlett, MD: So when a parent comes to CHOP with their child for a clinic visit, what they’re going to find on that day is every specialist that they could possibly need.
Jesse Taylor, MD: A lot of kids with craniofacial anomalies need braces, or potentially orthognathic surgery, or jaw surgery, to get the teeth in the right place.
Kristen Lowe, DDS, MS: Any wigglers?
Patient: No, not lately.
Kristen Lowe, DDS, MS: We’re not just looking at the teeth. We’re not just looking at the surgical needs. But we can communicate with each other to try to come up with what’s going to be the best plan for the patient as a whole.
One of the services we offer here is three-dimensional, surgical treatment planning and surgical modeling. And we found that we were getting really excellent results.
Scott Bartlett, MD: Many of the patients who come through the craniofacial program also have conditions relative to the eyes and the eye sockets. So we also have an ophthalmologist.
Jesse Taylor, MD: The eye doctor may look into the back of the eye and check for pressure. Or they may check that the eye muscles line up appropriately.
Audiologist: All right pretty girl, can you hear me?
Audiologist: All right. So we’re going to start with our words.
Scott Bartlett, MD: We also have an otolaryngologist.
Audiologist: Ice cream
Patient: Ice cream
Audiologist: Hot dog
Patient: Hot dog
Scott Bartlett, MD: A speech pathologist who is part of the team.
Cynthia B. Solot, MA, CCC/SLP: The speech pathologist’s role is to determine if a difficulty is present, what the nature of that difficulty is, to collaborate with the team so that we can develop treatments for that child.
Jesse Taylor, MD: And then a psychologist who can help the patient and their family deal with some of the psychosocial issues. What is it like to deal with pain? How do you talk to other kids about your facial appearance?
Leanne Magee, PhD: We’re dealing with kids and families in times of a lot of growth and development, and transition. And we’re introducing additional stressors like major reconstructive surgeries, appearance differences, speech differences, things that really affect kids. Coping and functioning at home and in school.
Jesse Taylor, MD: You’re going to meet the growth specialist who’s going to measure different parts of the face and see if they’re in proportion, or if they’re asymmetric.
Jesse Taylor, MD: Our geneticists make sure that we’re not missing an underlying genetic syndrome.
Charlene Deuber, DNP, CRNP, CPNP: Nurse practitioners offer a unique addition by looking at the patient in a very holistic sort of sense.
Meg Ann Maguire, RN, MS, CRNP, CPNP: I can be a vital contact for that family to help explain the process, clarify the process, or help just provide that comfort.
Charlene Deuber, DNP, CRNP, CPNP: We are the first line responders, if you will, to patient concerns.
Oksana Jackson, MD: This type of team care, where they’re seen by all these specialists at one time, really makes their care more efficient because it’s all in one place, but also most comprehensive so that nothing is missed and they get the best care.
Scott Bartlett, MD: So what we do on team day is we sit down and project the patients’ images on the screen, and then we go around the table and talk about each one of those patients.
Jesse Taylor, MD: Each individual team member brings a unique set of skills that really allows us to see the whole individual, the global picture.
Patricia Schultz, MSN, CRNP, RN, CPSN: And as a result of all of us talking together, and the input from all of the different specialist…
Scott Bartlett, MD: We formulate an overall assessment and then put a cohesive plan together, which we think is the best formula for success for that patient.
Psychosocial support for children with craniofacial conditions
Jesse Taylor, MD: I think appearance in our world is important. Almost everything in life is affected by our appearance. And I think it’s OK to have the belief that appearance is important. And for us to focus on appearance.
Kristen Lowe, DDS, MS: This is her from the front. You know, a nice smile. I know this tooth really doesn’t … it kind of bothers us a little bit. So we can talk about options and how we can help you with that.
Jesse Taylor, MD: The first step for me is to create an environment in the clinic. This is a very privileged environment, and we’re gonna talk about appearance in ways that you wouldn’t at home, or at school. What’s their childhood gonna look like? What’s the future gonna look like for this child? Allowing somebody that freedom to be honest is a big part of, I think, doing my job.
Connor Nickollof, Patient: It’s a kid-friendly place. They make the kids and the parents feel safe, almost like a guardian.
Leanne Magee, PhD: It’s really nice to get to talk families through what to expect. Helping parents understand the transition to school, if there’s any learning difficulties their child might be having as a result of their craniofacial condition.
So you guys don’t know anything which is where a lot families are when they come in. They don’t know what to expect.
It’s important to have a psychologist on a team for a couple of reasons. First is that we get to educate families about the emotional experience of having a child with a craniofacial condition. So when they come to see their multi-disciplinary team, we assess growth and development, school functioning, emotional and behavioral functioning, social functioning. And that gives us a good chance to check in and see what’s new.
And any trouble at school this year, like detention or suspension?
Connor, Patient: Oh no, I’m not that kind of kid.
Leanne Magee, PhD: Not that kind of kid?
If they’re really struggling with anxiety, depression, adjustment, fear of an upcoming surgery for instance, we might meet with them on a weekly or biweekly basis to help them get through that. And to explain the procedures in an age-appropriate way so that kids can really understand and become a partner in their treatment.
Connor Nickollof, Patient: Some kids that go through hard times, they go to Dr. Leanne Magee and she mainly helps them get through it.
Leanne Magee, PhD: We can help families think about themselves as parents, as community members, and as role models for their children. Which can often mean helping them have the space to express anxiety, fear and grief that can come with a diagnosis.
Laura Nickollof, Mother: It doesn’t matter who I meet at CHOP, and it doesn’t matter what the day is like, somebody is, you know, they’re holding your hand, asking you what you need. It is a safe and reassuring place. And we feel normal here.
Leanne Magee, PhD: These are healthy, normal kids who are growing and developing, and having all the same milestones. Sometimes they’re a little delayed, but they get there. And we want our families to be able to celebrate all that stuff that comes along with having a child.
Scott Bartlett, MD: One of the programs we have, for example, is our fall Cleft and Craniofacial Picnic where all of the kids get together here right on the CHOP campus. And I think it’s great for the kids because it shows them, “Hey, yeah I have deformity of my eye, but so does that kid. I’m not alone, you know.”
Leanne Magee, PhD: We have the opportunity to help families see beyond their child’s diagnosis, and that allows that kid then to thrive.
Hemifacial microsomia: Meet Connor and Laura
Laura Nickollof, Mother: So Connor was diagnosed at birth. He went right to the neonatal ICU. I don’t think I had time to even be sad, or be mad, or be happy, or anything. I just was moving at 90 miles an hour right from day one. He had an underdeveloped jaw. He was missing his eyelid. He had skin tags on his face. You could tell that he was asymmetrical. One of the nurses came over and she said, “Go to CHOP.” Dr. Bartlett, oh my God, I can’t say enough wonderful things about him.
Scott Bartlett, MD: So Conner is a great kid. He has a condition called hemifacial macrosomia, where part of his face doesn’t grow. And in fact, he was missing part of his jaw. So Connor had a deficient on one side that was very asymmetric. And we took a piece of his rib and grafted that area. If you’re lucky and if you get the right rib graft in at the right time, it may grow normally. And Connor, in his case, it did.
Laura Nickollof, Mother: He had the skin tags removed from his face. He had his eyelid repaired when he was about 8 months old. He was “lazy eye.” So he had that surgery repair. He had a rib graft placed to replace his missing jaw. He had a blood vessel graft placed in his check. And he had his tongue repaired. Dr. Scott Bartlett, he’s like our rock star. If I could have him on a poster in my bedroom I would.
Connor Nickollof, Patient: The team, they’ve been almost like a second family. They’re just helping me get through all these surgeries.
Laura Nickollof, Mother: Diana Sweeny, she’s the patient liaison, she just walks me through everything. If I have a concern, a question, I mean, she loves Connor. Yeah, and you love Diana.
Connor Nickollof, Patient: Yeah
Laura Nickollof, Mother: Connor’s been going to school … we were fortunate enough though, we were in a very small town, and there is about 75% are the same kids that he’s been going to school with since kindergarten, that we don’t have to go every year with a new group of people that we have to explain, you know, what Connor’s condition is. You know, we did that for a couple years in kindergarten, first grade, and gave his little speech and that was kind of the end of it.
Connor Nickollof, Patient: I play lacrosse in the spring, swim in the summer, and I play soccer in the fall. But mainly I'll ride my bike around town with my friends. At CHOP it’s nice to feel that I’m not alone in the world. Like, I have multiple friends. I meet new people that have different faces, different syndromes, and some kids, they might not have differences, but it’s nice to know that they still look up and respect those who do.
Scott Bartlett, MD: I’ve seen him in the times that he’s been out talking to school groups about the value of appearance, and not to judge people by their appearance. That’s been satisfying to see him blossom and grow into such an excellent human being.
Connor Nickollof, Patient: I don’t really feel different at all. Like when I look at myself in the mirror, I don’t really focus on the differences. I focus on what makes me alike from everyone else.
Laura Nickollof, Mother: I told you, he’s a pretty cool kid. He’s pretty awesome. You know, everybody, you know, dreams of having the perfect child. And I succeeded. I have a fabulous child. I’m proud and impressed.
Connor Nickollof, Patient: I’m also as proud of my mom as she is of me. To somehow manage to keep up with all these surgeries, that requires to make me feel better. I honestly think that that’s probably the best gift a mother could possibly give. I’m going to cry.
Laura Nickollof, Mother: I’m going to … I am going to cry.
What is craniosynostosis?
Scott Bartlett, MD: Craniosynostosis, or craniostenosis, is a condition which is premature closure of some of the seams on the skull. These are growth regions that allow normal expansion of the brain during growth. And when these seams close, you can constrict the brain in an area and cause abnormal growth in another area.
Craniosynostosis generally comes in two patterns. There’s the syndromic type in which there’s a genetic mutation, or an inheritable condition that causes a repeatable pattern. Or there can be the non-syndromic type where no one knows what causes it. There’s typically an isolated closure of one seam that gives you a distinct head shape abnormality.
There’s probably close to 90 syndromes associated with heritable forms of craniosynostosis. Apert, Crouzon, Pfeiffer, Muenke, Saethre-Chotzen Syndrome, the most common five that we see.
Some of these children are diagnosed by ultrasonography ahead of time, and there may be abnormal head shapes to alert them to the need for a special delivery. Many of those children will end up in our special delivery unit here at CHOP, which is focused on the care of fetal and congenital anomalies.
In syndromic-synostosis, these are typically genetic in origin, although they may be a new mutation to a new family. What they cause is not only closure of one of the seams of the skull, but they typically cause abnormalities in growth of the remainder of the face, and head and neck region. So these children frequently need a series of operations over their lifetime that may begin with a procedure on the cranial vault, or the skull, early in childhood, and progress to the need for secondary surgery on that. Or the need to move the entire mid-face into a different position. Or to adjust the jaws, and the upper and lower jaws, and correct a jaw deformity.
So beginning in childhood, and infancy, and all the way through adolescents, your child needs to be in a center that can know the needs and address the needs of a child growing. And can address them on multiple levels: the eye socket, the forehead, the orbits and the face sequentially.
So many of the non-syndromic patients have just a single seam closed prematurely. And the treatment of that usually involves removing that closed seam and reshaping the adjacent bone. If the child has a more severe, more established deformity, it involves an open approach where the seam is removed, the bones are cut and repositioned, and held in position with a series of sutures, or wires, or plates and screws that dissolve. This frequently involves the upper forehead, the orbits, and sometimes the remainder of the skull.
When it comes to the management of simple, non-syndromic synostosis, that is conditions in which there’s typically one suture closed, we have a variety of techniques available to us to treat that patient. They vary from simple strip craniotomies, placement of cranial springs, to formal open procedures that require cutting the bones and repositioning them.
What your child will need and what he will get will depend upon his age and the degree of deformity. And we have a team that has been utilizing these different techniques for years, and years, and years. And the team will tailor the treatment for your child.
We’ve had a Craniofacial Center here at The Children’s Hospital of Philadelphia since 1972. We perform more procedures each year in the treatment of syndromic and non-syndromic craniosynostosis than any center in the country.
Our team looks to coordinate the care and individualize the treatment of these complex deformities to fit your child.
What is hemifacial microsomia?
Scott Bartlett, MD: So hemifacial microsomia, which is also known as craniofacial microsomia, or first and second branchial arch syndrome, is the second most common condition of the head and neck in children, after cleft lip and palate.
We don’t know what causes it, but what happens is an underdevelopment of one side of the face. And up to 20% of the patients, this can be both sides of the face. We have varying deficiencies of the soft tissue and bone, which can include the ear, the lower jaw, the upper jaw, the soft tissue and the nervous structure. And it varies from being very mild to even almost complete absence of those structures.
So hemifacial microsomia is typically diagnosed at birth. So the treatment of hemifacial microsomia depends on the degree of the difference, as well as the age of the child. In children that have less severe deformities, frequently it’s a matter of just taking the existing bone structure and cutting it and shifting it, or elongating it. Or doing a procedure called distraction where we actually cut the bone, pull it apart, and create new bone.
And then we do things to the soft tissue like adding soft tissue from elsewhere, such as fat grafts and fat transfers. All of which are done to normalize the appearance and improve the facial symmetry.
In some children that have a very severe manifestation of the disease, such as an absence of the bone of the jaw, or an absence of the ear, then we have to rebuild that. And we do that with bone grafts taken from the rib or from the lower leg to build the jaw. And to rebuild the ear, taking cartilage from the rib to carve a new ear.
One of the things that we’ve worked on recently, when some of these children are born with a severe deformity, is to use surgical planning using 3D images that we take of the children. We can actually manipulate them with the computer, so that we get a virtual image ahead of time of what the child is going to look like and what we can do, and what we should do, to add to make that deficient mandible, or jaw, the most normal.
So children with hemifacial microsomia, a certain of them may have an increase incident of associated anomalies such as cardiac condition, spine condition, limb condition. So we work close with orthopedic, with cardiology, with cardiac surgery, hand surgery, to address all of those needs concurrently. Some of the children that are more severely effected with hemifacial microsomia may require respiratory support. They may not be able to breathe at birth, and sometimes during childhood, because the lower jaw structure that supports the breathing apparatus, such as the tongue, is not fully developed.
We work closely with our neonatologist as well as our Neonatal Craniofacial Program to make sure, and our neonatal airway program, to make sure that those children get the respiratory support they need. Every patient is individual, and our team will develop an individual treatment plan to address every one of the major areas of deficiency or deformity in hemifacial microsomia with the best possible outcome.
What is Pierre Robin syndrome?
Jesse Taylor, MD: Pierre Robin sequence, or syndrome, is when kids are born with an abnormally small lower jaw, a larger than normal tongue for the size of the jaw, and sometimes cleft palate. About two-thirds of kids who are born with Pierre Robin sequence have a cleft palate.
The diagnosis of Pierre Robin sequence is often made based on history and physical examination. Historical features such as difficulty breathing or stopping breathing during the night can occur. The other thing that we concentrate on is the child’s ability to feed. Because if a child can’t feed, it’s hard for them to grow. And the feeding and the breathing issues can go hand and hand.
If your child has Pierre Robin Sequence, our team may decide to order a number of tests. One of the tests is a polysomnogram, or sleep study, in which we will measure the level of oxygen that your child is getting while sleeping. This also gives up some information about what the brain is doing while your child is sleeping, as well as the heart and the lungs.
Another important test to do is a microlaryngscopy and bronchoscopy, which is a test in which we stick a very small fiberoptic camera into the airway and watch your child breath. This gives us a lot of information about the anatomy of the airway, which will help direct care as we move forward.
The last test we might order is an X-ray of the head and neck, which will give us information about the anatomy of the jaw, as well as its size relative to other structures of the head and neck.
Because there is a wide variety of patients who have Pierre Robin sequence, there’s also a wide range of treatments. Most mild cases of Pierre Robin sequence can be treated with prone positioning alone. That’s when a child sleeps facing downward. By sleeping facing downward, the base of the tongue is brought forward, which will allow them to breathe more easily.
More moderate or severe cases of Pierre Robin sequence are treated with either tongue/lip adhesion, mandibular distraction, or a tracheostomy. Tongue/lip adhesion is when the undersurface of the tongue is sown to the lower lip. This brings the tongue base forward and can be applied in moderate cases of Pierre Robin sequence.
Mandibular distraction osteogenesis is a technique where we actually elongate the abnormally small jaw. But bringing the chin point forward with this technique, it drags the tongue base forward to relieve airway obstruction.
Our plastic surgery team has a tremendous amount of expertise in treating Pierre Robin sequence. We offer the full range of treatment modalities that are used throughout the United States, and the world, to treat this problem. If your child has Pierre Robin sequence, they may see a number of different specialists here at CHOP. Our team has an extensive experience with this. And in fact, we’re one of the largest volume centers in the country.
Our multi-disciplinary team of experts creates a customized treatment plan for every child. And then we reevaluate as they continue to go through childhood and grow so that at every time point we optimize their outcome.
What is Treacher Collins syndrome?
Jesse Taylor, MD: Treacher Collins syndrome is a heritable disorder that affects about 1 in every 50,000 live births. It affects the eyes, the ears, the cheeks, and can create hypoplasia, or undergrowth in each of those areas. It also affects the palate, sometimes resulting in a cleft palate, and a lower jaw, often creating a smaller than normal lower jaw. It can also affect some other parts of the body.
Treacher Collins syndrome can present with a high degree of variability, with some individuals being affected quite mildly while others are very severely affected. In some cases, Treacher Collins syndrome can be diagnosed prenatally, but most cases are diagnosed after birth. We may collect a DNA sample to sample the genes that can be affected by this syndrome.
To further our knowledge of the exact anatomy, we may gather X-ray data, CT scans, or other imagining tests to help us further define how severely affected an individual might be.
The treatment of Treacher Collins syndrome varies tremendously from patient to patient. Timing can be critical. And if a child is born with a critical airway issue, they may require airway reconstruction shortly after birth.
Other surgeries such as surgery on a cleft of the palate, the ears, the cheeks, or the eyelids, can be delayed until later in childhood after a child has met specific developmental milestones.
A patient and family with Treacher Collins may choose to come to The Children’s Hospital of Philadelphia for several reasons. One is our team which has an extensive experience in treating kids with Treacher Collins syndrome. We work with a variety of multi-disciplinary specialists throughout our medical community to optimize care in every realm. Whether it’s ear reconstruction, cheek reconstruction, jaw reconstruction, or other aspects of the Treacher Collins syndrome.
Our multi-disciplinary team of experts creates a customized treatment plan for every child. And then we reevaluate as they continue to go through childhood and grow. So that at every time point, we optimize their outcome.
Topics Covered: Craniosynostosis, Non-syndromic Craniosynostosis , Syndromic Craniosynostosis, Hemifacial Microsomia, Pierre Robin Syndrome, Treacher Collins Syndrome , Apert Syndrome, Crouzon Syndrome, Muenke Syndrome, Pfeiffer Syndrome, Saethre-Chotzen Syndrome