Cleft Lip and Palate
A patient may require syndromic craniofacial treatment if he or she displays abnormalities in the face or head. They may need an immediate procedure to prevent further deformation as they age. A baby or child still has time to heal and correct the abnormalities that these conditions cause as long as they get treated during the early stages.
Children with a cleft lip often have a hole in the gum below the lip as well. This is called an alveolar cleft. There can also be a separation in the roof of the mouth called a cleft palate. However, because the lip and palate develop separately, not all children with cleft lip have a cleft palate and vice versa.
A cleft palate may be divided into the back of the palate (soft palate) or front of the palate (hard palate) or both. This is based on when the developmental event occurs in utero as the different portions of the palate develop at different stages, which occur between the fourth and ninth week of gestation. The soft palate is soft because it consists of muscles, which are primarily used for speech. The hard palate has bone and its function is a barrier between the nasal cavity and the oral cavity. Therefore, with a cleft of the hard palate there is often food regurgitation into the nasal cavity as well as difficulty acquiring suction for bottle feeding.
The soft palate is generally repaired around one year of age as this is the time when an infant starts to acquire speech. The hard palate may be repaired anywhere from nine months to four years of age. Surgeons who choose to repair the hard palate later often place a prosthesis in the mouth until the time of repair for ease of feeding and to allow for non-surgical narrowing of the bony cleft of the palate. There are many opinions as to the timing of closure of the cleft palate. However, most surgeons agree that speech is the foremost concern. It is the concern for surgical scarring of the hard palate that prompts varying opinions regarding timing of closure. It is our philosophy that by delaying surgical intervention until approximately 1-4 years of age, the hard palate is allowed to migrate toward the midline over time narrowing the cleft and thus allowing for an easier surgical closure. Until the time of surgery for formal cleft palate closure, We leave a palatal prosthesis (placed around 3 months of age) in place to allow for undisturbed growth of the bony cleft palate toward the midline, without the tongue in the way. This enables easier feeding with less food regurgitation into the nasal cavity.
Children with an isolated cleft lip (no cleft palate) typically have no problem eating. They can be fed with normal nipples, although a crosscut nipple can be helpful. Feeding of a child with a cleft palate is more challenging if the cleft encroaches on the hard palate or involves the entire hard palate. This is because of the difficulty and expenditure of the child’s energy during feedings as they cannot acquire a vigorous suck. If parents try to feed their baby (born with a cleft palate) by breast feeding, or using a standard nipple and bottle, they will find that after about 30 minutes their baby will get tired of trying to get enough milk and will fall asleep. Then, within 60-90 minutes, the baby will wake up, crying and hungry again. The result of this cycle is that the parents become exhausted, and the baby does not gain weight. Therefore, right after a baby is born with a cleft palate, a feeding specialist (typically a speech pathologist or occupational therapist) is called in to help. With this in mind, there are several different approaches to bottle feeding. In essence, they involve either putting pressure on the bottle to extrude the milk and deliver to your baby or releasing the milk by learning to tongue the nipple. Either method can be effective as there are several different types of nipples and bottles to assist in feeding. The critical point is to find an effective method for your baby that allows feeds to offer enough volume in a reasonable amount of time with minimal effort on the part of your baby.
A cleft of the soft palate creates a speech problem in the child. When we speak, the soft palate uses six muscles to intermittently close off the nose from the mouth. This is important in the creation of certain sounds like s, b, p, etc. When there are problems creating these sounds, the patient is said to have velopharyngeal insufficiency or VPI. Without proper closure and repair of these muscles, normal speech can not be expected. With proper surgery, most children will have normal speech (national average is 80%); however, speech therapy is frequently required.
Children born with a cleft palate are more likely to develop fluid behind their eardrums (serous otitis), which may progress to ear infections. Often, babies will need tubes put in their ears to improve hearing (children who do not hear well develop speech delays). Cleft lip and palate teams should try to coordinate the placement of tubes, when needed, with the lip or palate repair in order to reduce the total number of operations a child will receive.
There are many causes of a cleft lip, most of which have nothing to do with the parents. Therefore parents should not blame themselves for “causing” the cleft. In about one third of cases, one of the baby’s relatives will have had a cleft; in the remaining two thirds, there is no family history. A cleft does not occur because of any one thing in particular that a woman did during her pregnancy. A number of genes have been discovered that are associated with cleft lip and palate, and a number of different drugs (alcohol, cigarettes, some seizure medications, vitamin A derivatives) have also been shown to make clefts more likely. However, it is most probable that a number of factors must come together for a cleft to occur. Children born with a cleft lip and palate need to be evaluated by experienced physicians to make sure that there are no other associated problems. Once a family has a child with a cleft lip and palate, the chances of having a second child with a cleft is about 4% (many families find it helpful to meet with a geneticist to further discuss these issues). There is some evidence suggesting that if a mother is at risk for having a child with a cleft (there is a family history for clefts) taking multiple vitamins (including folic acid) may reduce the chance of having a child with a cleft.
As ultrasound technology improves, more clefts are being diagnosed in utero before the baby is born. Most families agree that it is better to learn if their child has a cleft lip before the birth, in order to give them time to better understand this condition. Typically, families will then meet with a cleft lip and palate team, in order to prepare for the delivery. Children with an isolated cleft palate, especially if they also have a small jaw, need to be seen by a geneticist to rule out Pierre Robin Sequence, Velocardiofacial syndrome, or other syndromes.
Cleft Lip Repair
Some surgeons may recommend taping the lip together, in an attempt to narrow the width of the cleft before surgically closing it. The timing for the lip repair is most often between 3-4 months of age. The traditional rule has been that the baby should be ten weeks old, and weigh at least ten pounds for safe administration of anesthesia.
The actual surgical technique used to correct a cleft lip is fairly standard; most surgeons perform some fashion of a “rotation advancement” repair. This repair recruits skin and tissue from the sides, in order to vertically lengthen the lip, while bringing the edges together. There are different ways of closing the skin at the end of the lip repair: regular stitches, dissolving stitches and tissue glue. Regular stitches must be taken out 3 to 5 days after being placed, in order to prevent bad scarring. Dissolving stitches have the advantage of not needing to be removed. We only use dissolvable stitches and/or tissue glue in our patients so that the child does not need to have additional procedures for suture removal.
NAM (Nasoalveolar Molding)
Nasoalveolar molding is a non-surgical method of bringing the gum and lip together by redirecting the forces of natural growth. It is non-painful and easy to use. This molding process is coordinated by our orthodontist and usually takes about 12 weeks. It also allows for correction of the flattened nose prior to surgery, and facilitates nose repair at the time of lip repair. This technique is becoming the “gold standard” for cleft lip repair and we are proud to be able to bring this technique to the families.
Essentially, our orthodontist fashions a mold of the oral cavity and uses an passive process over several weeks to narrow the cleft. There is also usually an outrigger device placed into the nose to help round out the cartilage of the nose to a more normal anatomy. Towards the end of the process there is usually taping of the lip to relax the tension for ease of closure of the lip just prior to surgery. This is a labor-intensive process for both the parents and the orthodontist. This process usually takes about 3 months with visits at least every other week to remodel the molding device. The goal is to narrow the cleft, align the cleft segments, round out the nose, and bring the lip segments closer together. This all enables the cleft lip and palate to migrate closer together for easier surgery and allow for improved scarring. Over the last ten years the results from institutions that perform NAM have been impressive, especially regarding scars and alignment of the nose. We offer this to all cleft lip and palate patients who are willing to comply with this regimen. We will specifically try to have all bilateral cleft patients engage in this process due to the exemplary results.
Cleft Palate Repair
Children with a cleft of the soft palate undergo a definitive closure between 9-15 months of age. At this time, we often perform a Z-plasty of the soft palate, which is a lengthening procedure. This type of closure takes a little longer (about 2 hours) but is both more anatomic and provides additional length, allowing for fewer post-operative speech problems than traditional straight-line soft palate repair.
If a hard palate cleft is present, then a static palatal prosthesis is placed in the first 3 months of life. The goal is to make feeds easier, preventing reflux into the nose, as well as allowing the hard palate to migrate to the midline over time. This is a slow process, but by preventing the tongue from interfering during feeds and other activities the prosthesis allows the hard palate to grow towards the midline. When the prosthesis is removed we wait about 30 days before operating on the palate to allow the surrounding tissues to strengthen enough to hold suture. Patients undergo hard palate repairs between 1-3 years of age, depending on the width and severity of the cleft deformity.
After palate surgery, your child will be watched closely for any problems with breathing, and a nursing specialist will work with you to start feedings as soon as possible. Feeding is liquid or puree only for 2-3 weeks via a sippy cup or a syringe allowing time for the stitches to dissolve. Your child may also wear elbow immobilizers during this time to prevent the placement of any unwanted objects inside the mouth. The immobilizers can be taken off when your child is being held. After about 4 weeks, the palate should be healed, and we will advance the diet to regular foods.
Most patients will stay in the hospital 1 day following surgery. Children can go home when they are able to drink well. Your child may be fed with a syringe initially, but after 1-2 days, the use of the soft specialized nipple may be reinitiated. Your child may also wear protective elbow immobilizers, which prevent your baby from scratching his or her face or reaching into the mouth and disrupting the sutures. These immobilizers are worn for the first 2-3 weeks but may be removed when you are holding your baby.
After 2 weeks of healing, you will begin lip massage 3-5 times a day. This is essential because it decreases scar and helps prevent lip “notching” which always occurs after surgery. Massage helps you get the best result for your child and our staff will instruct you in the proper method. We usually recommend vitamin E over the counter lotion to apply 3-5 times per day for a minute at a time along the length of the scar with some digital pressure. This massage will continue for up to 6 months after surgery.
Following the lip and palate repair, many children are done with their lip and palate surgery. It is important to watch dental and speech development as well as the maturation of the lip scar and the growth of the upper jaw. Occasionally, however, some additional surgeries are required to optimize the final result. As your child grows, he or she may need some “touch up” lip surgery.
Alveolar Bone Grafting
Alveolar bone grafting is usually done between 6 and 8 years of age to allow for bony continuity and adult dentition to form properly. An alveolar cleft is a breach in the gum line where there is usually teeth and bone. Because children lose their initial “baby” teeth it is not until the adult teeth begin to form that we consider bone grafting. If bone is not placed into the alveolar cleft prior to tooth eruption, then the adult tooth will never erupt. Currently alveolar bone grafting involves obtaining bone cells from the marrow of the hip and placing them into the cleft. This is a painful procedure and usually requires at least one overnight stay in the hospital. However, we are currently researching and employing other modes of obtaining bone graft that are less painful and do not require overnight stay. Definitive nasal surgery, when necessary, is usually delayed until after alveolar bone grafting so there is a stable bony platform for nasal reconstruction to rest upon.
LeFort I Advancement
Children who have a retruded maxilla or under bite may need additional jaw surgery. This occurs in approximately 20% of cleft patients. Most think that this is attributed to the scarring caused by the multiple surgical interventions. Because our practice intervenes surgically on the hard palate later in age, the need for upper jaw surgery has decreased. Those who still require surgery to align their jaws usually have this done between the ages of 5-8 years with a distraction device. Those who are older, with dental skeletal maturity in their teenage years, undergo a more traditional advancement of the upper jaw with surgical plating.
The procedure involves cutting the upper jaw and moving it forward. It is moved forward by one of two methods: either by traditional plates or screws that are placed at dental maturity (between 13-17 years of age based on gender) or through distraction. Distraction is a method of slowly moving bone and soft tissue forward through either an internal or external distractor. External distractors are cumbersome but provide a great deal of control. Internal distractors and dissolvable materials are preferable and are being used more often now. The benefits of the internal distractor are that there is less of a social stigma and less interference with daily activities. Disadvantages are that there is less control in the post-operative period, they often require a second procedure, and they are still relatively new.
Distraction involves phases which include a consolidation period from 4-6 weeks upon completion of the forward movement. This allows the new bone that has grown to harden over time and retain the forward movement. During these 4-6 weeks the child continues to have hardware as well as maintain a soft diet. External distracters are removed with very little pain in the office. Internal distracters, unless made of dissolvable material, require a secondary procedure for removal. The results are usually impressive and lasting.
VPI (Velopharyngeal Insufficiency) Procedures
VPI, essentially, is when the soft palate is not working properly and allows speech to escape through the nose rather than solely through the mouth. This is assessed clinically by the surgeon or speech pathologist who is listening for nasal air escape with speech. This can also be assessed through special types of MRI or endoscopy. When it is determined that the causes of speech problems are result of a short or inappropriately closing soft plate often surgical intervention is required. This usually entails either lengthening the palate through a Z-plasty or taking tissue from the back wall, called the pharynx, and laying the tissue over the opening. This is usually done in one of two methods: the first called a pharyngeal flap and the other a sphincteroplasty. The surgical intervention is determined by the anatomy and location of air escape. The outcomes for both of these procedures are essentially equivalent.
In light of NAM techniques and better cleft surgeries the need for rhinoplasties has been reduced. Children with bilateral clefts have a higher incidence for rhinoplasty. However, it is somewhat dependent on the individual in determining if nasal aesthetics and/or breathing need to be improved. If necessary, the surgery is put off until either social stigma dictates or after early teens have completed the alveolar bone grafting process. The nose is degloved and the internal architecture including cartilage, nasal septum and bone can be addressed. Often times the cleft deformities require cartilage grafting to round out the lower portion of the nose. The cartilage may be obtained from either the nasal septum or from the ear cartilage through a separate well-hidden incision behind the ear.
Craniosynostosis is the premature closure of the open areas between the skull growth plates, often termed sutures, in an infant. When there is no other involvement besides the skull growth plates, the condition is termed non-syndromic craniosynostosis. There can be some genetic predisposition to craniosynostosis, but most often it occurs spontaneously and is thought to be the result of in utero growth constraint. Examples of this include small pelvis, low amniotic fluid, larger-than-normal babies, and twins. When a suture closes prematurely, an abnormality of head shape occurs due to compensatory expansion required by the growing brain. This compensatory growth causes predictable skull deformations that are most often diagnosed clinically, but a CT scan may be obtained to verify the diagnosis. There are six major skull sutures, two of which, the coronal and lambdoid, are paired.
Cranial sutures involved in non-syndromic craniosynostosis include:
- Metopic craniosynostosis (trigonocephaly)
- Sagittal craniosynostosis (scaphocephaly)
- Coronal craniosynostosis (plagiocephaly)
- Lambdoid craniosynostosis (posterior plagiocephaly)
The treatment of craniosynostosis is surgical. In a small percentage of cases surgery is mandated by an increase in intracranial pressure (10-15%) due to changes in head shape, configuration and volume. However, most cases are treated because of the resulting aesthetic skull deformities and the team efforts of the craniofacial plastic surgeon and neurosurgeon can optimize the outcome.
In order to understand craniosynostosis, it is helpful to know about the normal growth of the skull. The skull is not made up from one single bone, but instead is made up of different bones. The junctions where these bones meet are called sutures. We know that sutures are very important in growing children. The skull gets larger because the brain is growing and putting pressure on the skull to increase in size. So, if the brain does not grow, the skull does not get larger. In the first few years of life brain growth is most rapid. As the brain grows, it stretches the skull bones apart, with the sutures acting like expansion joints. If one of these sutures has fused shut, the skull cannot expand to accommodate the growing brain, so the brain must push the other non-fused sutures further apart so there is enough room for the brain. This sequence of events leads to the abnormal skull shape. This is often likened to blowing up a balloon with air and then squeezing the filled balloon. The volume of air is the same, but the shape becomes distorted to accommodate the shape and pressure changes. In altering the shape of the head, essentially the brain and skull are accommodating to the growth plate, or suture, prematurely closing.
Causes of Fusion
The two most common causes for premature closure of a suture are either a change in one of the child’s genes, or from pressure on the skull. When only a single suture is fused shut, the most common cause is likely to be from outside pressure on the skull. It is possible to cause craniosynostosis in animals by restricting skull growth while the animal is still in the womb, and it is very likely that this is the primary cause for the majority of the single sutural synostoses in babies. The uterus is a relatively small space. It is known that sometimes babies can end up in certain positions in the uterus where they cannot move around freely (for example, the breech position). It is suspected that children born with a single sutural synostosis may have arisen from abnormal position in the uterus resulting in pressure on a part of the skull. If the skull gets caught in a tight place in the uterus, this pressure can restrict the ability of the skull bones to be stretched apart by the growing brain. Abnormal skull shapes and single suture synostoses are more commonly seen in twins than in single births, further supporting this theory of in utero constraint.
Usually, when children with a single sutural craniosynostosis mature, they do not pass this trait on to their children. However, it has been reported of a single sutural synostosis being passed from generation to generation. This hereditary pattern suggests that the single sutural synostosis is caused by a problem with a gene allowing this trait to be passed from one family member to the next. It is possible to test for some of these genes to see if they are present in children with craniosynostosis. However, it should be remembered that the overwhelming majority of single suture synostoses appear to be the product of two parents with normal genes, and a mother who has normal prenatal care.
Timing of Intervention
When is the best time to do the operation?
Surgery to correct craniosynostosis can be done at any age. The ideal time is between 4–10 months, depending on which suture is fused shut. However, when using endoscopic, or minimal invasive surgical approaches to craniosynostosis of any type, the operation is best done very early, between 2-4 months of age. The goal of the operation is to remove the obstructive fused skull bone early and then remodel the post-operative immature remaining skull bones, through an orthotic banding device, or helmet. Helmet therapy is variable in duration depending on severity of the deformity, ranging from 3-12 months, and beginning 1-3 weeks after surgery. Endoscopic approaches are commonly used for sagittal synostosis with excellent results. It can be used in other types of fusions, but patient selection and scale of the deformity are critical in deciding when to use this approach versus open techniques. However, it is being employed more often and with success in metopic and lambdoid fusions. We continue to push the bar of less invasive techniques for surgery. The goal, however, is an excellent result and therefore patient’s age, type of fusion and severity all weigh into deciding which approach is best.
In favor of operating at an earlier age are:
- With early operations the skull is less rigid and easier to shape.
- The younger the infant, the better the chance that any small skull defects that might be left at the end of the operation will fill in. After one year of age, babies pretty much lose their ability to make skull bone. So, when operating on an older child, a more extensive operation is necessary in order to fill in all open areas.
- The longer a child grows with a fused suture, the more other areas of the skull may over-expand because the brain cannot grow near the fused suture; this results in more drastic changes in the skull shape.
In favor of operating at a later age are a number of factors:
- The operation may be slightly safer. The worst possible complication, following both endoscopic and remodeling procedures, is the baby does not survive the operation. This horrible complication, which is very rare, almost always results from excessive blood loss. As the infant gets bigger, the child has more blood to lose, and there may be a decreasing likelihood that a blood transfusion will be necessary. Surgery before 12 weeks of age is unusual unless the deformity is quite severe. Infants should be given a drug called erythropoietin before surgery, which typically raises a child’s blood levels to help prevent the need for blood transfusions, hopefully improving the overall safety of the operation. There is also a “cell-saver” that sucks up the blood lost during the operation, filters it, and gives the baby back its own blood.
- The other benefit to operating at a later age is that the correction performed is more likely to last a lifetime.
Balancing all of the above factors, it seems that the ideal time to correct craniosynostosis is somewhere between 4 – 10 months, depending on which suture is involved, the severity of the abnormal skull shape, and a number of other factors.
The earliest treatments for single sutural synostoses were performed by neurosurgeons operating alone. These early procedures, sometimes called “strip craniectomies” or “Pi procedures,” were similar in that they involved removal of the fused suture in hopes of releasing the restriction to growth (basically, throwing away a section of the skull). However, a number of studies proved that these treatments were almost always unsuccessful. The excised bone usually grows back quickly so that there is no significant change in shape. However, sometimes the skull will grow back incompletely, leaving a permanent open space of unprotected skull. The result with these older techniques is that the skull shape is never normalized, and sometimes children need to have another operation to either correct the skull shape, or to fill in skull defects that never completely healed.
Today, children with a single sutural synostosis usually undergo an evaluation by a craniofacial team prior to deciding on surgical treatment. If needed, surgery is performed by a craniofacial surgeon and a pediatric neurosurgeon working together. If parents meet a neurosurgeon who recommends operating without a craniofacial surgeon, seeking another opinion is recommended. Typically, it is the role of the neurosurgeon to safely remove the bone, and the craniofacial surgeon’s job is to rebuild the skull into a normal shape. The specifics of this procedure vary from surgeon to surgeon.
After learning that the “strip procedures” never completely corrected the abnormal skull shape, craniofacial surgeons recognized that not only is it necessary to remove the bones affected by a fused suture, it is also critical to remodel the surrounding affected skull bones in order to achieve a normal shape. These remodeling procedures vary, but there are three basic techniques:
- Surgery is limited to the area of the skull near the fused suture and is done in a single operation
- The entire skull is removed, and remodeled in one operation
- The skull is treated with two separate operations, one on the back, and then a second one in the front in a staged approach.
The surgery to correct a single suture craniosynostosis should be performed with both a craniofacial surgeon and a neurosurgeon. In addition, only pediatric anesthesiologist’s with craniofacial surgical experience should be selected. During the operation, the family should be given hourly updates as to their child’s condition. The average correction takes around four hours from start to finish. The surgery is performed though an incision that is made from across the very top of the head.
The goal of the operation is to remove the areas of skull that were affected by the fused suture and rebuild the skull into a normal shape (which is slightly over-corrected to compensate for the abnormal growth that that will occur). In order to rebuild the skull, it is necessary to hold the bones together, so that they can heal. Either dissolving stitches or dissolving plates and screws are used to set the bones.
At the end of the operation, the scalp is closed with dissolving stitches. Metal staples or non-dissolving sutures can hurt when they are removed. Instead, the child should be given a shampoo with the hair combed over the incision.
The child will usually spend one night in the pediatric intensive care unit and is transferred to the floor the following day. Most patients remain in the hospital for about 48-72 hours. The risks of the surgery are very small at the most experienced centers.
Metopic Craniosynostosis (Trigonocephaly)
Metopic Craniosynostosis is one of the more common forms of this disorder, accounting for approximately 40% of all single-suture synostosis. The metopic suture lies along the midline of the forehead and when fused prematurely, leads to a ridge in the middle of the forehead and a triangular shaped appearance to the skull (trigonocephaly). A small fraction of these patients will have increased intracranial pressure and other neurologic abnormalities, which include eye musculature imbalance and mental delays. Correction is usually recommended for improvement in the cosmetic appearance as well as to address any possible underlying neurologic concerns.
Characteristics of metopic craniosynostosis include:
- Triangular shape of the forehead and orbits
- Visible ridging along the growth plate
- Orbital hypotelorism (narrow set eyes)
- Narrowing or constriction along the temples
Trigonocephaly involves fusion of the metopic suture. The metopic suture runs from the top of the head, at the fontanel or soft spot, down the center of the forehead to the nose. It is different from the other sutures of the skull because it is the only one that normally begins closing in infancy. A ridge can easily be seen running down the center of the forehead and the fontanel is often absent, or closed. In looking straight on at your child, in addition to seeing a ridge running down the center of the forehead, the forehead will look narrow, and the child’s eyes are usually spaced closer together than is normal. When viewed from above the forehead has a triangular shape, like the bow of a boat.
The incidence of trigonocephaly is approximately one in 3,500 births. Some children may be very mildly affected and do not require treatment. There is a term being used currently that may be misleading called mild or moderate trigoncephaly. This is confusing, as most children fuse this growth plate normally around one year of age. This time frame is variable and therefore, a child may close their suture at 8 or 9 months and be considered normal but have some mild features of an early fusion. A fusion is nearly always an in utero event and therefore, picked up earlier because of the constraints placed on the developing skull. Trigonocephaly has also been reported to occur when mothers have taken Valproic Acid for seizures.
Those children who fuse somewhere around one year of age can still develop a ridge and have some mild features, but these most often soften with time and rarely ever need a surgical intervention. But, this diagnosis does have some gray areas that parents find troublesome as their child may exhibit some features. The decision to operate in these cases, which are seen with some frequency, is whether the aesthetic concerns will be a source of social stigmata in the future. If the narrowing of the eyes, forehead, and especially the temple region dictate a sincere concern then operating is the rule. If the deformities are mild, and therefore much less noticeable, most often an operation is avoided. This decision process must be entered into with an experienced craniofacial surgeon and include parental involvement. Only those children who have overt trigonocephaly require surgical treatment. Children with an isolated ridge running down their foreheads do not require surgery.
Sagittal Craniosynostosis (Scaphocephaly)
Sagittal Craniosynostosis is the most common form of single-suture synostosis (one in 3,000 births). The sagittal suture lies along the midline of the skull. When this suture fuses prematurely, the head cannot grow in width, but must grow in length to accommodate the expanding brain.
Characteristics of sagittal craniosynostosis include:
- Elongated skull shape (front to back)
- Narrow skull width (side to side)
- Midline bony ridge
- Frontal bossing
- Occipital bullet or prominence
- Head circumference often > 90%
When diagnosed early, children with sagittal synostosis are candidates for both minimally invasive endoscopic approach, as well as open techniques. When children with sagittal synostosis present at older ages, correction involves cranial vault reconstruction, which can be carried out safely using a standard coronal incision from ear to ear that is hidden in the hair. Whether corrected early or late, it is best performed by a skilled pediatric craniofacial plastic surgeon.
Scaphocephaly involves fusion of the sagittal suture. This suture runs from front to back starting at the fontanel, at the top of the head, and extends backwards along the middle of the skull to the back of the head. Often the fontanel, or soft spot, is absent or closed. A ridge can be seen, or felt, running along the top of the head in between the right and left half of the skull. When viewed from above, the skull is wider near the forehead and gets narrower towards the back of the skull (which is the opposite of what is normal: that is, the back of the skull should be wider than the front). When looking straight on at the child’s face, the forehead seems prominent and the sides of the skull look narrow. Almost all children affected with scaphocephaly require surgical treatment.
Coronal Craniosynostosis (Plagiocephaly)
Coronal Craniosynostosis is a premature closure of the skull sutures that lie behind the forehead and run from side to side. Coronal Craniosynostosis may be unilateral or bilateral. When both coronal sutures are involved, it is more likely that an underlying syndrome is present. The geneticists will determine if the condition is syndromic or non-syndromic.
Characteristics of unilateral coronal craniosynostosis include:
- Flattening of the forehead on the affected side
- Prominence of the forehead on the non-fused side
- Retrusion and increased height of the orbit on the fused side
- Ridging along the affected suture
Plagiocephaly involves fusion of one side of the coronal suture. The coronal suture runs across the top of the skull, almost from ear to ear. The soft spot, or fontanel, is located midway between the right and left coronal sutures and is usually absent, or closed, in plagiocephaly. On the side of the skull where the suture has closed, one can typically feel a raised ridge of bone. When viewed from above, the forehead on the affected side is recessed, or further back than the other side (which typically is further forward than normal in order to compensate for the brain’s inability to grow on the affected side). In looking straight on at the child, the eyebrow on the affected side is usually higher and the root, or top of the nose, may be deviated toward the side of the fused suture.
The incidence of plagiocephaly is estimated to be about one in 5,000 births. Almost all children affected with plagiocephaly require surgical treatment.
Lambdoid Craniosynostosis (Posterior Plagiocephaly)
Lambdoid craniosynostosis is quite rare and occurs in only 2-4% of patients with craniosynostosis (one in 300,000). The lambdoid suture is paired and located along the back of the head and it may fuse prematurely on one side or on both sides. Typically, fusion will cause the skull to develop a trapezoid shape, indicating restricted growth at the fused suture and compensatory growth changes surrounding the suture.
It is important to differentiate lambdoid craniosynostosis from positional head deformation in the first months of life as position-related head deformities are easily treated by molding with bands or helmets rather than surgical treatment.
Characteristics of lambdoid craniosynostosis include:
- Ridging over the fused lambdoid suture
- Contralateral frontal bossing
- Posterior displacement of the ear on the affected side
- Bulging around the mastoid region on the fused side
- Depressed occiput (back of skull) on the side of the fusion
A diagnosis can usually be made by physical examination, but occasionally a CT scan is necessary to verify true fusion of the lambdoid suture.
Posterior plagiocephaly involves a fusion of the lambdoid suture. This suture is located on the back of the skull. It has a right and left side and is shaped like an upside down “V.” Usually, only one side fuses shut, but rarely both sides will be closed. When viewed from above, the affected side of the back of the head is flatter than the opposite side. One key marker for fusion of the lambdoid suture is a low bump behind the ear on the same side as the fused suture, called a mastoid bulge. Another marker seen when the lambdoid suture is closed is to look and see if the ear on the same side as the posterior skull flatness is pulled backwards. If the ear is forward on the flat side, with respect to the opposite ear, then a skull deformation should be suspected instead of a fused suture. It is critically important to determine whether or not the child truly has a fused suture because skull deformations almost never need to be surgically treated. Making the diagnosis even more difficult is the fact that on plain skull x-rays the lambdoid suture is frequently misdiagnosed as being fused shut. Ideally, the diagnosis of lambdoid synostosis is made by CT scans, read at an experienced center. Children who have lambdoid synostosis and significant flattening of the skull most often require surgical intervention.
Endoscopic or “Minimally Invasive” Craniosynostosis Repair
Originally, repairs for craniosynostosis were done through a large open incision. Specifically in sagittal synostosis, surgeons would remove a strip of bone from the top of the skull. This approach had generally poor long-term results with regard to improving head shapes. The open technique was then modified to a greater remodeling procedure, more intrusive, but yielding better long-term results. Now, the open technique encompasses a greater remodeling of the skull and does yield fine results, but through a larger incision and longer hospital stays. The benefits of the open technique are that no helmet therapy is required post-operative, it is safer to see the entire operative field, and it yields excellent long-term results. The drawbacks of this technique are larger incisions in the hairline, longer operating time, increased need for blood transfusions, and longer hospital stay.
With the introduction of endoscopic surgery or “minimally invasive” repairs, an endoscope (small operating camera) is used through two small 5 cm (about 2 inches) incisions on the top of the head for reconstruction. This procedure also removes a portion of bone, as in the past, but also allows the surgeon to do additional reconstruction. With both the neurosurgeon and the craniofacial surgeon, the bone cuts and remodeling are completed. This procedure takes about one hour as opposed to the open procedure, which is closer to four hours.
The post-operative course is usually 24 hours in the hospital as opposed to 3-4 days for the open procedure. Also, the blood transfusion rate for the minimally invasive approach is about 25-30 percent as opposed to 50-75 percent with open techniques. The difference in the post-operative course is that those with the minimally invasive approach require helmet therapy. This is a banding device applied to the skull at about 3 weeks post-operation. This helps to remodel the bones for approximately 3-6 months.
In reviewing patient outcomes for a child with mild to moderate synostosis, the minimally invasive technique has had good results. For those children with more severe deformities or syndromes, the open techniques still yield safer and better long-term results.
Minimally invasive approaches for craniosynostosis have yielded good results for sagittal synostosis. The results for other forms of fusions, specifically coronal and metopic synostosis, have been tried with poor results thus far. Even with molding helmets post-operatively, it is very difficult to change the forehead and the orbits. Our belief is that better results can be achieved through a combination of the minimally invasive approach with the use of a dissolvable distractor.
A distracting device is placed during surgery on the bone to slowly allow forward repositioning of the skull and/or orbits. An attached turning device is placed outside the scalp and allows the parent and/or surgeon to turn or “distract” the bone daily for approximately 1-1.5 mm. This is painless to the child, but allows the bone to move slowly forward until the surgeon feels there is adequate remodeling of the skull, forehead, and orbits. Once distraction is stopped, in approximately 1-2 weeks, the turning device is easily removed from the scalp in the office. The bone then remains in its new position and is allowed to heal. The space created during distraction usually fills with bone in about 8 weeks. The tendency of the skull, forehead, and orbits to remain in their new position is excellent. With this new technique, there is no need for any post-surgical helmet therapy. The distractor on the underlying bone dissolves in approximately 12 months.
Hemifacial Microsomia/Goldenhar Syndrome
Hemifacial microsomia is an underdevelopment of the tissues on one side of the face that occurs in approximately one in 5,000 births. When eye involvement is present, it is also known as Goldenhar syndrome. It affects both sides of the face in approximately 15% of the cases. This condition results in an asymmetry of the face with malformation of the ear and an underdeveloped jaw on the affected side. The functional challenges of this condition include an abnormal bite, hearing loss and related psychosocial issues. This is the second most common facial birth defect after clefts.
Characteristics of hemifacial microsomia include:
- Short mandible canted to affected side
- Malocclusion with chin shifted to affected side
- Microtia or small, or absent, ear
- Diminished cheek soft tissues
- Macrosomia or lateral oral cleft
- Absence or dysfunction of facial nerve on the affected side
Up until fairly recently, this condition was called first and second branchial arch syndrome; even today, it is sometimes referred to by geneticists as oculo-auriculo-vertebral syndrome. The term craniofacial microsomia is sometimes used to describe individuals who also have involvement of the upper face and forehead.
At the current time, no specific gene has been identified that causes this condition, and it is very rare for someone with hemifacial microsomia to pass the trait on to his or her children. The exact cause of this condition remains unknown, but there was some experimental evidence published many years ago that suggested if a small blood vessel ruptures near the developing ear in mice before they are born, after birth they appear to have hemifacial microsomia. More likely, this condition results from an impaired flow of cells (called neural crest cells), which arise next to the spinal cord, and migrate to the face to form the facial skeleton; if not enough of these cells are able to successfully migrate to their intended location, that side of the face ends up being smaller.
Children with hemifacial microsomia have a smaller face on the side that is affected. Parents usually note that the corner of the mouth is higher on this side and that the chin does not exactly line up in the middle of the face. The lower jaw (mandible) is flatter and shorter, and the ear is either smaller or not formed at all (microtia). The jaw joint may be small or even completely absent. Some children will have a cleft extending off the side of the mouth (macrostomia), making the mouth opening larger. Some children will have weakness of the muscles on the affected side of the face. The child’s right side is more likely to be affected than the left side. Up to 25% of the cases are bilateral. Some children are very mildly affected, while others are significantly affected. Intelligence and development are normal.
If a child has a bump or benign tumor of the eyeball, called an “epibulbar dermoid,” then your child may have Goldenhar variant, which may be considered another type of hemifacial microsomia. Children with Goldenhar frequently have fusions of some of the vertebrae (spine) in the neck; however, this almost never requires any treatment.
Craniofacial microsomia is the term given to children with hemifacial microsomia who also have involvement of the upper face and forehead. Typically, the forehead is smaller and is not as far forward as that of the opposite side. The bones around the eye may also be recessed.
The treatment plan for a child with hemifacial microsomia depends upon the severity of the condition. Children who are more mildly affected might not need any intervention at all; whereas, severely affected children require more care. Some doctors believe that treatment should begin at an earlier age, and others believe it is best to wait until more growth has occurred. Mandibular distraction or traditional jaw surgery is needed if the discrepancy of the lower jaw and face are severe between 3-8 years of age. Sometimes a bone graft is used to lengthen the jaw and sometimes a distraction device is used. If a child has an ear anomaly, this is often addressed through multiple surgeries beginning around 7 years of age. Social stigmata usually begin around first grade, so this is the time to discuss intervention, but enough overall body size is needed to obtain the cartilage for reconstruction from the rib cage. If there are soft tissue changes around the lips (macrostomia) or eyes, these are often addressed surgically in the first two years of life. If a child has a facial nerve deficit, nerve grafting and muscle transfers for facial reanimation procedures can be started between 6-8 years of age.
Pierre Robin Syndrome
Pierre Robin Syndrome is characterized by the triad, or sequence of findings: micrognathia (small lower jaw), glossoptosis (the tongue tends to fall back and downwards), and airway compromise. Often there is an associated cleft of the soft palate resulting from the posteriorly displaced tongue interfering with normal palate development in utero. As a result of the physical characteristics of Pierre Robin Syndrome, both feeding and breathing difficulties are often present in varying degrees of severity.
The causes of Pierre Robin Syndrome are unknown; however, Robin sequence is seen in a number of genetic syndromes. Those children born with a cleft palate should be seen by an Ear, Nose and Throat (ENT) specialist who will carefully monitor fluid buildup behind the ear.
Initially, when airway obstruction occurs, the primary goal is to create an adequate airway by using distractor techniques that prevent the need for a tracheostomy. If left untreated, patients have problems with feeding, obstructive sleep apnea, ear infections, and reduced hearing. In more mild cases, the neonate may be placed in a prone position, or a nasopharyngeal tube may be inserted through the nose to maintain airway patency.
Sometimes a tongue lip adhesion may be performed, sewing the posteriorly displaced tongue forward to the inside of the lower lip opening the airway. This adhesion is released at a later date after the goals of improved feeding and growth have allowed the airway to enlarge. The benefit of this less intrusive procedure is no visible facial scars.
Treatment Using Distraction Osteogenesis
The first step to correction is dependent on the patient’s airway stability. If the airway is extremely compromised, bilateral mandibular osteotomies with distraction osteogenesis may be performed. This is done to avoid the need for a definitive breathing tube, a tracheostomy, which once placed remains in often for 4-5 years prior to any opportunity for safe removal. This process allows for the slow forward movement of the jaw and surrounding soft tissues, resulting in an immediate change in the anatomic airway.
Usually this takes less than one week to bring the mandible (lower jaw) forward to the upper jaw, creating a more normal anatomic jaw and improved airway relationship. This procedure takes approximately 3 hours and the patient remains in the hospital 2-3 days after surgery. The parents are instructed on how to turn the distraction device and patients are typically seen back in the office on a weekly basis. Once the mandible is in a more favorable position, the external turning pins are removed from behind the ear in the office, then the wait begins for the bone to consolidate.
This consolidation phase takes about 4 weeks for the bone to ossify with enough strength to prevent relapse. Then the intraoral device is removed from the mandible under anesthesia, which is considered an outpatient procedure. In neonates, and children less than one year of age, a dissolvable distractor is used that remains in place on the mandible, but reabsorbs in about 1 year, obviating the need for surgical device removal.
For patients with Pierre Robin Syndrome that have an associated cleft palate, it is typically surgically closed around 9-12 months of age. This procedure helps with both speech and feeding issues.
Pierre Robin Syndrome patients continue to be monitored throughout their childhood years for obstructive sleep apnea, mandible growth and any changes in breathing patterns. Occasionally, future surgery is required in these patients in order to obtain normal speech, avoid sleep apnea and assist with jaw alignment.
Positional Head Deformities
Positional head deformities, sometimes called deformational plagiocephaly, have dramatically increased in frequency (an incidence as high as 48%) following the 1992 recommendation by the American Academy of Pediatrics that all infants sleep on their backs to prevent sudden infant death syndrome (SIDS). Prolonged and preferential positioning of the head can lead to a characteristic change in skull shape. The back of the head is usually flat on one side, and the ear and forehead on the same side are rotated forward. Generally, these deformities are easily differentiated from craniosynostosis by a thorough examination. A CT scan is necessary in some cases to differentiate this disorder from others requiring surgery, but most often in experienced hands these diagnoses can be determined based on clinical exam.
Characteristic findings in positional head deformity include:
- Flatness of the back of the head on the affected side
- Flatness of the forehead on the opposite side
- Rotation of the ear forward on the affected side
- Fullness of the forehead on the affected side
- A trapezoidal shape of the skull
When diagnosed in the first year of life, children can usually be treated non-surgically using band or helmet therapy. Ideally, therapy is started at 6 months of age, when children begin to roll over and spend less time asleep. The skull is quite malleable during this first year, but begins to thicken and therefore becomes more difficult to shape after 12-14 months. Helmet, or banding therapy, involves making a mold of the skull, from which a model of the skull is then fashioned. This model is then rounded out and used to fabricate a form-fitting band or helmet that sits snugly against the prominent areas of the head. The flattened, recessed areas of the skull are permitted to gradually expand into the open areas of the band or helmet. Correction in skull shape usually occurs within three to six months. The helmet or band is made by a skilled orthotist working with a pediatric craniofacial surgeon, pediatric neurosurgeon, or pediatrician.
In older children, craniofacial surgery is necessary only when deformities around the forehead and eyes are severe and become a social stigma. This surgery is similar to that performed for craniosynostosis.
Head shape deformities may also be caused as a result of torticollis. Torticollis is most often an in utero event involving the shortening and underdevelopment of the neck musculature on one side. Often, the baby will be positioned against the uterine wall and use the wall as crutch for head support and this may result in the neck lacking the musculature for strength and support. This musculature will usually develop outside of the womb in time. However, the resultant weakness on one side of the neck often causes a head tilt and a compensatory falling to the opposite side during sleep. This then secondarily causes ahead deformities. In this case, the torticollis must also be addressed to prevent relapse after molding therapy and lengthen and strengthen the neck muscles. Often, this is achieved with the help of physical or occupational therapist for daily exercises. In more severe cases, sometimes Botulinum Toxin A (Botox) injections are employed. This paralyzes the injected muscles for approximately three months, allowing parents and therapist to better stretch the shortened and tight neck. Only in the most severe and refractory cases (less than 2%) require release of the tight neck muscles via a surgery.
With the use of the helmets, we expect a 90-95% correction in head shape. All human beings have some asymmetry in their skull and it is unrealistic and unnatural to expect perfect, rounded symmetry following any treatment of head shape. The typical length of a cranial remodeling treatment is directly dependent on the age at which the child begins this therapy. Molding therapy is not usually started until 6 months of age when many infants are likely to be able to roll over, thus changing the sleeping position more easily and often.
Sleep Apnea and Airway Obstruction
Sleep apnea and compromised airways can occur due to a variety of abnormal conditions. The cause of a compromised airway can be determined by careful examination, radiographic studies, and endoscopy. Additionally, a sleep study is often utilized to determine the severity of the airway problem.
Common causes of sleep apnea and compromised airways include:
- Choanal stenosis
- Enlarged tonsils and adenoids
- Enlarged tongue and small chin
- Underdeveloped upper jaw (maxilla)
- Underdeveloped lower jaw (mandible)
- Collapse of the larynx or trachea
Many of the craniofacial syndromes we see and treat also have obstructive sleep apnea, which may be caused by a blockage of the airway. In Apert and Crouzon Syndrome, upper airway obstruction can be caused by mid-face deficiency, mandibular deficiency, or both. In Pierre Robin Syndrome, Treacher Collins Syndrome, and Nager’s Syndrome there is often a profound retromicrognathia, with a small recessed mandible, causing airway obstruction.
Sleep apnea is a common disorder with significant adverse health consequences. Those with untreated sleep apnea stop breathing repeatedly throughout sleep, which can lead to high blood pressure, cardiovascular disease, memory problems, weight gain, and headaches. Due to the lack of awareness among the public and healthcare professionals, many remain undiagnosed. The most common etiology of airway obstruction in children is enlarged tonsils and adenoid hypertrophy. A determination must be made between central and obstructive sleep apnea. Both can be commonly found in craniofacial patients and may have detrimental effects on brain function. However, treatment plans are different depending on the root source. In obstructive cases, often the midface or mandible can be moved forward to enlarge the airway opening and remove or prevent a tracheostomy. In central apnea, sometimes the cause is increased intracranial pressure from a chiari malformation which requires neurosurgical intervention.
Evaluation and Treatment
The most common rationale for the indication of surgery is the need to alleviate the symptoms of excessive daytime sleepiness and minimize or eliminate the associated cardiovascular and metabolic complications associated with sleep-disordered breathing. To determine the severity of sleep apnea, a presurgical evaluation must be completed with the following studies:
- Overnight sleep study
- Comprehensive head and neck physical exam
- 3D CT scan
- Direct nasopharyngeal endoscopy
Some surgical techniques used to correct obstructive sleep apnea include tracheostomy, nasal reconstruction, turbinectomy, mid-face or jaw distraction, hyoid suspension, and orthognathic surgery. Our goal in treating patients with obstructive sleep apnea is to prevent a tracheostomy.
In children with obstructive sleep apnea and micrognathia (as in Pierre Robin Syndrome and Treacher Collins Syndrome), surgical treatment of the airway can be an emergency. The goal is first to provide a stable airway, which may require a tracheostomy in some cases. However, in many cases a tracheostomy may be omitted if the mandible can be moved forward. Distraction osteogenesis of the mandible is a surgical technique that involves the use of internally or externally placed devices that allow the team to slowly advance the bone without the need of bone grafting. This takes a period of time, often 2 weeks, and can be done at home. This is followed by a one-month period of bone healing prior to the removal of the devices. Many cases have successfully been performed relieving the obstruction and returning the patient to have a normal airway.
Microtia and Other Ear Deformities
Congenital ear deformities occur in many different syndromes or alone. The term microtia indicates a small, abnormally shaped or absent external ear. It can occur on one side only (unilateral) or on both sides (bilateral). The unilateral form is much more common, occurring in approximately 90% of patients. It more frequently affects boys and the right ear. Unilateral microtia occurs in approximately one out of 6,000 births and bilateral microtia occurs in one out of 25,000 births.
Repair of congenital microtia requires the coordinated efforts of both a plastic surgeon and an Ear, Nose and Throat (ENT) surgeon. Reconstruction of the microtic ear is usually delayed until the child is 6-10 years old. At that age, cartilage from the rib is harvested to reconstruct the external ear. Several operations may be necessary. Any child born with microtia should be evaluated at a craniofacial center to rule out other conditions. For example, children born with microtia on one side may have a condition called hemifacial microsomia. Children who have both ears affected might have Treacher Collins syndrome or bifacial microsomia.
In addition, testing for hearing in both ears is indicated, using brain stem evoked response audiometry (BERA). This testing must be done early to determine the adequacy of hearing in the “normal” ear, as well as to confirm whether it is really normal.
Surgical correction over the last twenty years has been dominated by a technique by Dr. Burt Brent from California. This technique is based on a four-stage procedure that is started at 6-8 years of age. The first stage consists of fashioning the outer ear construct from rib cartilage. This stage requires the largest surgical procedure and an overnight hospital stay. The second stage consists of elevating the ear frame off the skull to give the ear projection. This is usually done with a full thickness skin graft taken from the groin or buttocks. This can be done as an outpatient procedure. The third stage consists of making the ear lobe. The last stage consists of making the tragus, or the cartilage around the ear canal. At any of these later stages, small touch ups and changes can also be employed on an outpatient basis. The timing between procedures is usually at least 3 months in order to insure adequate blood supply.
The treatment team includes the following:
- Craniofacial/plastic surgeon
- ENT surgeon
- Speech therapist
- Social therapist
Patient evaluations usually begin early in life, sometime in the first 3 months as the families usually have many questions and are nervous about the deformity. Annual follow-up appointments are necessary until the time of surgery. Computer tomography (CT) scans are required at different intervals to evaluate the internal anatomy of the ear and may be repeated on a regular basis to evaluate growth. If other anomalies are present, different radiographic interventions may be necessary as well as surgery.
Otoplasty is a surgical procedure used to correct prominent ears. The most common cause of prominent ears is lack of an antihelical fold, normally present just inside the rim of the ear. A wide concha or bowl of the ear can also contribute to prominence of the ear.
Psychsocial studies show that children become self-conscious about their appearance at 5-7 years of age, therefore making this the most common time for otoplasty procedures.
Children can typically be treated any time after 5 years of age, when the ear is nearly adult sized. The technique of otoplasty utilizes an incision on the back of the ears that is hidden from view. Through this incision the antihelical fold can be created and the height of the conchal bowl can be reduced. Nicely positioned ears are symmetrical and their rims are between 15 and 20 mm from the side of the head.
The surgery itself is simple and reliable in most cases, providing an expert carries out the operation. Usually the child can go home on the day of surgery.
Apert syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly). Apert syndrome affects an estimated one in 65,000 to 88,000 newborns.
Many of the characteristic facial features of Apert syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a sunken appearance in the middle of the face, bulging and wide-set eyes, a beaked nose, and an underdeveloped upper jaw leading to crowded teeth and other dental problems. Shallow eye sockets can cause vision problems. Early fusion of the skull bones also affects the development of the brain, which can disrupt intellectual development. Cognitive abilities in patients with Apert syndrome range from normal to mild or moderate intellectual disability.
Individuals with Apert syndrome have webbed or fused fingers and toes. The severity of the fusion varies; at a minimum, three digits on each hand and foot are fused together. In the most severe cases, all of the fingers and toes are fused. Less commonly, people with this condition may have extra fingers or toes (polydactyly). Additional signs and symptoms of Apert syndrome can include hearing loss, unusually heavy sweating (hyperhidrosis), oily skin with severe acne, patches of missing hair in the eyebrows, fusion of spinal bones in the neck (cervical vertebrae), and recurrent ear infections that may be associated with a cleft palate.
Mutations in the FGFR2 gene cause Apert syndrome. This gene produces a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a specific part of the FGFR2 gene alters the protein and causes prolonged signaling, which can promote the premature fusion of bones in the skull, hands, and feet.
Apert syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases of Apert syndrome result from new mutations in the gene, and occur in people with no history of the disorder in their family. Individuals with Apert syndrome, however, can pass along the condition to the next generation.
Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Crouzon syndrome is seen in about 1 per 60,000 newborns. It is the most common craniosynostosis syndrome.
Many features of Crouzon syndrome result from the premature fusion of the skull bones. Abnormal growth of these bones leads to wide-set, bulging eyes (hypertelorism) and vision problems caused by shallow eye sockets; eyes that do not point in the same direction (strabismus); a beaked nose; short upper lip and an underdeveloped upper jaw. In addition, some with Crouzon syndrome may have dental problems and hearing loss, which is sometimes accompanied by narrow ear canals. Some with Crouzon syndrome have an associated cleft lip and palate. The severity of these signs and symptoms varies among affected people. People with Crouzon syndrome are usually of normal intelligence. No digital abnormalities are associated.
Crouzon syndrome traits include:
- Wide skull
- High forehead
- Wide set eyes
- Protrusion of the eyeballs
- Airway obstruction
- Underdevelopment of the upper jaw
Mutations in the FGFR2 and FGFR3 genes cause Crouzon syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. Mutations in the FGFR2 gene probably overstimulate signaling by the FGFR2 protein, which causes the bones of the skull to fuse prematurely. Mutations in FGFR3 gene are associated with Crouzon syndrome with acanthosis nigricans.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet. Pfeiffer syndrome affects about one in 100,000 individuals.
Many of the characteristic facial features of Pfeiffer syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose. More than half of all children with Pfeiffer syndrome have hearing loss; dental problems are also common.
Characteristics of Pfeiffer syndrome include the following:
- Short and cone shaped head
- Wide set and protruding eyes
- Beaked nose
- High arched or cleft palate
- Hearing loss
In people with Pfeiffer syndrome, the thumbs and great toes are wide and bend away from the other digits. Unusually short fingers and toes (brachydactyly) are also common, and there may be webbing between the digits (syndactyly).
Pfeiffer syndrome is divided into three subtypes. Type 1, also known as classic Pfeiffer syndrome, has symptoms as described above. Most individuals with type 1 Pfeiffer syndrome have normal intelligence and a normal life span. Types 2 and 3 are more severe forms of Pfeiffer syndrome that often involve problems with the nervous system. The premature fusion of skull bones can limit brain growth, leading to delayed development and other neurological problems. Type 2 is distinguished from type 3 by the presence of a cloverleaf-shaped head, which is caused by more extensive fusion of bones in the skull.
Pfeiffer syndrome results from mutations in the FGFR1 or FGFR2 gene. These genes provide instructions for making proteins known as fibroblast growth receptors 1 and 2. Among their multiple functions, these proteins signal immature cells to become bone cells during embryonic development. A mutation in either the FGFR1 or FGFR2 gene alters protein function and causes prolonged signaling, which can promote the premature fusion of skull bones and affect the development of bones in the hands and feet.
Type 1 Pfeiffer syndrome is caused by mutations in either the FGFR1 or FGFR2 gene. Types 2 and 3 are caused by mutations in the FGFR2 gene, and have not been associated with changes in the FGFR1 gene.
How do people inherit Pfeiffer syndrome?
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Treacher Collins Syndrome
Treacher Collins syndrome, also termed Franceschetti syndrome (TCFS), results from a bilateral combination of clefts through the malar and lateral orbital bones that occurs in approximately one in 25,000 births. Known as Tessier clefts 6, 7 and 8, these result in a flattened cheek prominence, and downward slanting deficient lower eyelids. The mandible and ears are also underdeveloped. The primary functional problems associated with Treacher Collins syndrome are related to airway, occlusion, hearing, and abnormalities of the eyelids. Nager syndrome has the features of Treacher Collins syndrome but it is also associated with defects of the limbs.
Treacher Collins syndrome presents with different severities. That is, sometimes the syndrome is so mild that it is hard to tell if a child even has the syndrome. Other times, it can be quite severe. The following is a list of traits that a child may, or may not, have:
- Narrow forehead
- Retrusive and small lower jaw and chin
- Downward slanting of the eyes
- Lower eyelid and eyelash defects
- Malformation of the ears
- Cleft palate
- Small or absent thumb (Nager syndrome)
These children require evaluation by a craniofacial team with experienced geneticists, surgeons, dentists, speech and hearing specialists, and psychosocial therapists. When breathing difficulties are present, airway management is the highest priority. Subsequent treatments include correction of orbital and jaw problems, reconstruction of eyelids and ears, speech and hearing correction, and orthodontics.
Evaluation by a skilled geneticist is required due to the frequency of associated abnormalities of the vertebrae, heart, and urinary system. Treatment planning requires a craniofacial team to sequence reconstructive surgery; ear reconstruction, jaw reconstruction, soft tissue reconstruction of the cheeks and eyes, as well as address airway issues.
Treacher Collins syndrome has been shown to occur with the same frequency in boys and girls. Currently, no one knows what causes this condition. In over 60% of cases both the mother and father of a child born with Treacher Collins syndrome have normal genes, and the mother does “everything right” during her pregnancy. The process of bringing genes together from a mother and father is quite complicated. Once in awhile, a gene can be changed in the process. The gene for Treacher Collins syndrome has been identified and is sometimes called the “Treacle gene.” This gene is located on chromosome 5q. Treacher Collins syndrome can be inherited, and is transmitted in what geneticists call an “autosomal dominant pattern.” This means that if a child affected with Treacher Collins syndrome decides to have children when he or she is grown, there is a 50% chance of having a baby who also has Treacher Collins syndrome.
Nager syndrome is another autosomal dominant disorder characterized by patients with faces similar to individuals with Treacher Collins syndrome. These patients also have “bird-like” features and their mandibles are typically small and recessed with an obtuse angle. Their distinction lies in the fact that they have more severe ear deformities than patients with Treacher Collins. They also have characteristic upper and lower extremity defects. The genetic mutation associated with this deformity is currently unknown.
The treatment of the mandibular malformations in these patients varies based on the degree of underlying pathology. Patients with minimal deformity require either no treatment or a sliding genioplasty (chin augmentation), in order to normalize facial appearance. However, the majority of patients have more severe forms of micrognathia (small lower jaw) and require some form of bone grafting or orthognathic surgery to generate an adequate repair. Bone grafting of the mandible with costochondral rib grafts has traditionally been performed in the prepubescent years in order to augment mandibular projection. Definitive orthognathic surgery is typically delayed until facial skeletal maturity, with adult teeth erupted, in order to decrease the incidence of post-surgical skeletal relapse.
Patients with severe bilateral micrognathia can be treated at an early age via mandibular distraction osteogenesis. Distraction offers the advantage over traditional mandibular reconstructive approaches in that it can be done earlier and allows for over projection on the growing child’s skeleton to account for later growth. Probably the greatest advantage of mandibular distraction is its enlargement of the airway and often permits decannulation of a tracheostomy.
Patients with Treacher Collins syndrome and Nager syndrome frequently also require reconstructive surgery of the lower eyelid and ear. Ear reconstruction can begin at age 7-10 and are usually completed in 2 or 3 stages. The use of autogenous rib cartilage to carve and craft the new ear is recommended. This produces the most acceptable, long lasting result.
Prior to these reconstructions, all patients should receive a full evaluation by the team audiologist, otolaryngologist, and speech therapist. A full examination of the middle and inner ear structures should be performed in order to develop a plan for future ear reconstruction and to optimize both hearing and subsequent speech development. In many cases, a bone conducting hearing aid can be created which will solve the majority of the hearing problems. In those which it cannot, further treatment alternatives will be discussed and customized to meet each individuals needs.
Lower eyelid reconstruction can begin as early as age six. Simple procedures such as medial or lateral canthopexies can be used to correct abnormal lid position in many cases. However, in patients with severe underlying cheekbone deficiencies, bone grafting to the cheek is required to give the lid a good foundation on which to rest, prior to moving any soft tissue. Without this support, the lids themselves would sink back down to their pre-surgical position. Lastly, when virtually no lower lid is present, a vascularized transfer of upper lid skin and muscle to the lower lid may be indicated.