Craniosynostosis | The Children's Hospital of Philadelphia

Plastic and Reconstructive Surgery

Craniosynostosis

Craniosynostosis is a condition in which the sutures (growth seams) in an infant’s skull close too early, causing problems with normal brain and skull growth. Premature closure of the sutures may also cause the pressure inside of the head to increase and the skull or facial bones to change from a normal, symmetrical appearance.

Premature closure can involve any suture of the cranial vault or cranial base. When only one suture is prematurely fused, the condition is referred to as simple craniosynostosis. When two or more sutures are affected, it is referred to as multiple-suture synostosis.

Craniosynostosis can occur as an isolated condition, resulting in non-syndromic craniosynostosis, or in conjunction with other anomalies as part of a syndrome:

Why choose us

Every child’s diagnosis of craniosynostosis is unique and requires an individualized treatment plan. Coordinated care is especially important for children with syndromic craniosynostosis because of the associated physical and developmental issues. Families should look for treatment centers that offer multidisciplinary programs with pediatric specialists experienced in caring for every aspect of your child’s condition.

At The Children’s Hospital of Philadelphia, children with all types of craniosynostosis receive coordinated care through our centralized Craniofacial Program that has expertise in all of the clinical areas they may need throughout their treatment. CHOP’s Craniofacial Program is one of the oldest, most experienced programs in the country dedicated to caring for children with craniofacial differences. Our team also practices the most up-to-date techniques, offering a full range of individualized treatments for your child.

Depending on your child’s age, her care may also be managed through the Neonatal Craniofacial Program. All clinicians work closely together to manage your child’s condition and connect her with any related services she may need, all within one institution. This includes psychosocial support services, the Sleep Center, Hand Disorders Program, Pediatric Feeding and Swallowing Center, Neonatal and Pediatric Airway Programs and more.

Our team has continuously expanded the treatment options available to our patients, with a focus on the unique needs of children with these complex conditions. Coordinated, multidisciplinary care will provide the best outcomes for your child and improve her overall well-being.

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Syndromic craniosynostosis

Syndromic craniosynostosis is caused by an inherited or genetic condition and characterized by a collection of distinct facial and body anomalies that have a common cause. Syndromic craniosynostosis can range from mild to severe.

While each syndrome has its own specialized characteristics, many share several common features, including skull deformities, midface deformities, wide-set or bulging eyes and a depressed nasal bridge. One common skull deformity that can occur with any of the syndromes is called a cloverleaf skull anomaly. The name comes from a tri-lobar skull shape that looks like a cloverleaf, accompanied by high forehead, prominent and wide-spaced eyes and low-set ears.

Because the craniofacial features can be very similar for these types of syndromes, the presence of limb and hand abnormalities such as short limbs, fused fingers or extra fingers or toes can be a differentiating factor in determining the accurate diagnosis.

Syndromic craniosynostosis is most commonly found in:

Apert syndrome

Apert syndrome, also called acrocephalosyndactyly, is a genetic disease in which the seams between the skull bones close earlier than normal during prenatal development, affecting the shape of the head and face.

Individuals with Apert syndrome typically have a flat, elongated forehead, prominent or bulging eyes due to shallow orbits (eye sockets), recession or underdevelopment of the midface (maxillary hypoplasia), and a variety of other anomalies, including short stature or limbs of different lengths. The characteristic feature that distinguishes Apert syndrome from other types of syndromic craniosyostosis is the presence of hand anomalies, most commonly fused or webbed fingers (syndactyly).

These hand deformities can be quite severe and prevent your child from functioning normally. Referral to a specialized hand surgeon with expertise in treating and repairing hand deformities is an important element of care for children with Apert syndrome. The Hand and Arm Disorders Program at The Children’s Hospital of Philadelphia is the region’s largest multidisciplinary center treating children with congenital deformities of the hand.

Common issues and complications related to Apert syndrome

Patients with Apert syndrome can have related health and developmental issues, reinforcing the need for coordinated, multidisciplinary care and access to a variety of pediatric subspecialists. Complications include hydrocephalus, sleep apnea, eye exposure issues when the eyelids can’t close completely and airway compromise that may require tracheostomy. Patients with Apert syndrome may have associated intellectual or developmental disabilities.

Crouzon syndrome

Crouzon syndrome is the most common type of syndromic craniosynostosis. Similar to Apert syndrome, it is a genetic condition in which the seams of the skull fuse in abnormal ways and affect the shape of the head and face.

Crouzon syndrome shares many of the same features as Apert syndrome, including abnormal development of the eye sockets, prominent and widely spaced eyes, and slow development of the midface. In patients with Crouzon syndrome, the forehead generally appears more rounded with a more normally shaped nose, and the eyes tend to be more prominent. Another key difference is that patients with Crouzon syndrome do not have associated hand or feet anomalies present in other syndromes.

Crouzon syndrome presents many of the same associated issues as Apert syndrome, including airway compromise, sleep apnea, hydrocephalus and eye exposure issues. As with other forms of syndromic craniosynostosis, it is important for patients with this syndrome to be treated by a multidisciplinary care team that specializes in caring for children with these complex disorders.

Pfeiffer syndrome

Pfeiffer syndrome is a genetic disorder in which some seams of the skull fuse too early in prenatal development. The disorder is generally characterized by a high forehead, bulging and wide-set eyes, an underdeveloped upper jaw and beaked nose, as well as abnormalities of the hands and feet.

There are three types of Pfeiffer syndrome, each with varying degrees of severity. Children with type 2 and 3 typically have nervous system issues; children with type 2 may also present with a cloverleaf-shaped head.

Patients with Pfeiffer syndrome look very similar to individuals with Crouzon syndrome. Appearance can vary depending on if your child is mildly or more severely affected, but a common characteristic is the appearance of short, broad thumbs and partial fusing of the fingers (syndactyly).

Muenke syndrome

Muenke syndrome is a genetic condition in which one or more of the seams of the skull fuse too early in prenatal development. Generally characterized by an abnormally shaped head, wide-set eyes and flattened cheek bones, these facial and cranial differences are caused by the premature fusion of the coronal suture, the growth line which goes over the head from ear to ear. If one side is involved, these patients may have an asymmetrical shape to the skull.

The upper face and eyes of patients with Muenke syndrome may be similar to patients with other forms of syndromic craniosynostosis, but they typically do not develop midface hypoplasia or retrusion of the midface requiring surgery. Hand and limb anomalies are also uncommon in this syndrome.

Patients with Muenke syndrome may be at greater risk for elevated intracranial pressure than other syndromes, and hearing loss is much more frequently encountered.

Saethre-Chotzen syndrome

Saethre-Chotzen syndrome is a genetic disorder in which some seams of the skull fuse too early in prenatal development. Saethre-Chotzen syndrome is generally characterized by a cone-shaped head, asymmetrical face, low-set hairline and droopy eyelids (ptosis).

Most children with this disorder have a relatively flat face because of underdeveloped eye sockets, cheekbones and lower jaw. Some children with Saethre-Chotzen syndrome may have additional craniofacial anomalies such as cleft palate, low-set ears and dental issues. These children also commonly have birth defects affecting the hands and feet, so while some fusing of the fingers (syndactyly) may be present, they generally don’t have severe hand anomalies seen in Apert syndrome.

There are a multitude of other rare syndromic forms of craniosynostosis, including Carpenter syndrome (also known as acrocephalopolysyndactyly type II), craniofrontonasal syndrome (also known as craniofrontonasal dysplasia) and Jackson-Weiss syndrome.

Functional problems related to syndromic craniosynostosis

Patients with syndromic craniosynostosis often have related health and developmental issues, reinforcing the need for coordinated, multidisciplinary care and access to a variety of pediatric subspecialists.

Complications include hydrocephalus, sleep apnea, eye exposure issues when the eyelids can’t close completely and airway compromise that may require tracheostomy. Patients with Apert syndrome may have associated intellectual or developmental disabilities. Hearing loss and dental problems can accompany each of the syndromes.

The treatment approach is dependent on the associated anomalies. For example, patients with Apert, Crouzon and Pfeiffer syndromes are treated with similar procedures, such as midface surgery to correct the underdeveloped structures of the midface.

Treatment of syndromic craniosynostosis

The treatment of syndromic craniosynostosis is dependent upon both functional and appearance-related needs, and should be addressed immediately after your child is born.

If your child has syndromic craniosynostosis, she should be treated at a medical center where she will have access to pediatric specialists across the many clinical areas she may need.

At The Children’s Hospital of Philadelphia, coordinated care of patients with craniosynostosis related to syndromes is managed through the Craniofacial Program, working closely with the Center for Pediatric Airway Disorders to address breathing issues, as well as the Pediatric Feeding and Swallowing Center to manage feeding issues. Eye protection or balance issues, such as strabismus, are coordinated through the Division of Ophthalmology.

As your child grows, she should also have access to psychosocial support services to address any mental, social or psychological issues that accompany these conditions.

Surgical management of syndromic craniosynostosis

Because every patient has unique appearance differences and varying functional problems, the timing and course of surgical treatment for syndromic craniosynostosis is highly individualized.

It is important to see a surgeon with expertise in pediatric plastic and reconstructive surgery who specializes in treating these rare conditions. When choosing a surgeon, ask questions about the number of surgical procedures he has performed, surgical outcomes, and how many patients with syndromic craniosynostosis he has treated.

The current surgical treatment approach for children with syndromic craniosynostosis may include the following stages and procedures:

Strip craniectomy (age: under 6 months)

The common treatment approach at CHOP includes a formal cranial vault expansion and reshaping procedure, but a strip craniectomy can be used as a preliminary procedure to reduce pressure in very young children with multiple sutures involved. This procedure is only used in patients with raised intracranial pressure with the goal of relieving that elevated pressure.

A strip craniectomy is typically performed in conjunction with a pediatric neurosurgeon. The procedure generally lasts approximately two to three hours. After surgery, your child will stay at the Hospital for recovery and follow-up care. Most children stay for an average of three to five days.

Additional surgeries including vault expansion and reshaping procedures will be scheduled according to your child’s recovery and how well she responds to this preliminary procedure.

Posterior cranial vault distraction (age: 6-12 months)

The posterior cranial vault distraction is a surgical procedure that expands the back of the skull, cutting and gradually stretching the bone and skin to expand the intracranial space and create new bone.CHOP has been a leader in instituting this procedure that has helped countless children.

The distraction technique has replaced the traditional fronto-orbital advancement procedure as the most common initial treatment used to expand the skull in patients with syndromic craniosynostosis. The posterior vault distraction offers several advantages. Distraction expands the soft tissue in addition to the bone, allowing for significantly greater expansion of your child’s skull. This is especially useful if your child has elevated intracranial pressure or a very abnormal head shape.

In the posterior cranial vault distraction procedure, a coronal (ear-to-ear) incision is made, the posterior skull is exposed, and cuts are made around the bone to be expanded. Metallic distractors are then placed along your child’s bone and the incision is closed. The distractors work to slowly stretch and expand the bone and surrounding tissues.

Starting three to five days after the procedure, your child’s surgeon will begin turning the distractors. Over the next two to three weeks, gradual expansion of the bone and soft tissue occurs.

The operation typically lasts approximately two and three hours. You can expect your child to remain in the hospital post-surgery for an average of two to three days. This procedure may be repeated between 2 and 5 years of age if your child has continued growth restriction or abnormal skull growth.

The posterior cranial vault distraction is less invasive than a formal open vault expansion, and allows for more significant expansion of the bone and soft tissue.

Fronto-orbital advancement (age: 6-12 months)

Fronto-orbital advancement involves exposure of the upper eye socket and forehead.

Your child’s plastic surgeon makes an incision along the coronal suture at the front of the skull, and with the assistance of a neurosurgeon, performs a frontal craniotomy to release the involved sutures (growth seams) and elevate the forehead. The retruded supraorbital bar is then moved forward, bolstered with a cranial bone graft and secured with resorbable plates or sutures.

This procedure offers eye protection and creates room for brain growth. Depending on your child’s head shape before surgery, her surgeon will reshape the cranial vault as needed.

For children with eye exposure issues, fronto-orbital advancement is a first-stage procedure. Otherwise it is delayed as long as possible after posterior vault distraction, and may be performed when your child is older depending on the other surgical procedures she undergoes. In some cases, the procedure may be avoided and the condition managed with a monobloc distraction.

Fronto-orbital advancement surgery typically lasts about four to five hours, followed by an average hospital stay of four to five days for monitoring and recovery. As your child grows and develops, she may need additional procedures.

Le Fort III advancement (age: 4-8 years or 9-12 years)

The midface deformity found in many forms of syndromic craniosynostosis may be treated by this midface advancement procedure. The Le Fort III advancement involves cutting and repositioning the lower eye sockets and the remainder of the midface in a forward position.

Le Fort III advancements are typically performed as a single stage procedure in which the bone is advanced forward and bone grafts are placed in the gaps during the same surgery. It can also be combined with distraction osteogenesis in circumstances when bone deficiency and soft tissue forces preclude a single stage.

Patients who undergo this procedure when they’re in the 4 to 8 age range may need another surgery in the teenage years. For patients with less severe cases, waiting until a later age can decrease the need for another major midface advancement surgery.

Monobloc frontofacial advancement (age: 4-12 years)

In some patients, it is possible to advance the forehead and midface in one step, simultaneously improving the form and appearance of the forehead, eyes and midface. In these cases, the monobloc frontofacial advancement is performed instead of a combination of fronto-orbital and Le Fort III procedures. The preferred surgical approach is determined based on your child’s facial differences and where the midface and orbital elements lie.

Your child’s plastic surgeon and neurosurgeon will work together to perform this midface advancement procedure. Similar to a fronto-orbital advancement, a frontal craniotomy is performed, followed by an osteotomy of both the upper and lower eye sockets and midface, making a single bloc. An osteotomy is a surgical procedure in which a bone is cut to shorten, lengthen or change the alignment of the bone.

Although the monobloc procedure can be done as a single-stage procedure in which the face is then moved forward and fixated with screws, plates and bone grafts, it is more often done using distraction, as in the standard LeFort III procedures.

The advantage of using distraction is a greater degree of correction over time. As in all of the midface advancement procedures, secondary surgery of the forehead and midface may be required at a later age as your child grows and develops.

Le Fort III and monobloc advancement by distraction osteogenesis

Distraction osteogenesis can be applied to all surgeries of the skull and face that require moving bones, such as cranial vault remodeling, fronto-orbital advancement, Le Fort III, Le Fort II and Le Fort I. It involves the same cuts, but includes the placement of either internal or external distractors. Once the bones start to mend, typically three to five days after surgery, your child’s surgeon will begin turning the distractors. This stage lasts approximately two to three weeks, and gradually moves the midface forward.

A second procedure is required to remove the distraction device. If your child is treated at CHOP, you will return to the Craniofacial Program for follow-up appointments once or twice a year. At these visits, we may use 3-D CT scans to monitor your child for continued growth of the cranial vault and midface.

In distraction osteogenesis, expanding the soft tissue envelope in addition to the posterior cranial vault allows for significantly greater expansion and relief of intracranial pressure. This procedure is beneficial for patients with raised pressure who are too young to undergo fronto-orbital advancement. It can also improve function and appearance more than a second FOA in some patients, limiting the need for subsequent procedures. It is also typically associated with a lower rate of complications, especially in older children.

Le Fort I advancement, or upper jaw advancement (age: 14-18 years)

The Le Fort I advancement procedure is performed when your child reaches skeletal maturity to do a final correction of the bite. This procedure requires presurgical and postsurgical orthodontics

A plastic surgeon and specialized craniofacial orthodontist will work together to pre-align the teeth. This orthodontic work ensures maximum improvement of the malocclusion upon completion of the procedure.

The Le Fort I procedure typically requires two to three hours of operative time with a two to three day hospital stay. In some children with severe facial anomalies, the Le Fort I may be accompanied by an osteotomy of the lower jaw or mandible.

In some patients the midface will be adequately positioned by a prior Le Fort III or Monobloc advancement and a Le Fort I procedure may not be needed. Most patients will still require orthodontic treatment.

Mandibular osteotomy (age: 14-18 years)

A mandibular osteotomy may be needed in patients with severe craniofacial conditions in which the mandible is abnormally situated. This may be done in combination with the LeFort I procedure or as a separate approach.

The mandibular osteotomy involves making an intraoral incision and cutting of the bone, repositioning the jaw, and affixing it with screws and plates.

Final facial contouring (age: 15-19 years)

When your child is done growing and all major osteotomies are complete, final facial contouring is performed to enhance the visual appearance and correct any remaining irregularities of the facial skeleton. Final contouring procedures include smoothing irregularities, reduction, adding bone grafts or bone substitutes, and re-suspending soft tissues.

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Non-syndromic craniosynostosis

Non-syndromic craniosynostosis is a non-inherited, isolated finding without related anomalies such as disorders of the limbs, ears or cardiovascular system. It typically involves the early closure of a single growth seam, or suture, in your child’s skull.

The specific diagnosis and appearance of a patient with non-syndromic craniosynostosis depends on which suture is affected. The most common forms of non-syndromic craniosynostosis affect the sagittal (most common), coronal, metopic and lambdoidal sutures. The shape of your child’s head depends on which suture is affected.

Diagnosing non-syndromic craniosynostosis

Clinicians who specialize in treating children with craniofacial anomalies are often able to diagnose non-syndromic craniosynostosis by examining the shape of your child’s head. A CT scan may be performed to confirm the diagnosis. The CT scan allows your child’s medical team to more closely evaluate atypical findings and rule out any associated anomalies, an important step in establishing the best treatment plan.

For example, an abnormal head shape isn’t always related to craniosynostosis. It is important to understand your child’s condition before determining what treatment is best.

Sagittal synostosis

In sagittal synostosis (also known as scaphocephaly), the seam that runs from the front to the back of your child’s skull (the sagittal suture) fuses too early in prenatal development. Sagital synostosis is the most common form of non-syndromic craniosynostosis.

Because of the early closure of the suture, your child’s head becomes long and narrow — growing forward and backward because it was restricted from growing on the sides. When looking at your child’s face, her forehead may appear larger and the sides of the skull appear narrow. When looking down at her skull from above, it will appear long and narrow.

Unicoronal synostosis

Unicoronal synostosis is a premature fusion of one of the coronal sutures, the seams that run from the ear to the soft spot on your baby's head. Also referred to as anterior plagiocephaly or unilateral coronal synostosis, this is one of the most common forms of non-syndromic craniosynostosis.

In most cases, the cause of unicoronal synostosis is unknown, but there are often underlying genetic malformations associated with the condition (in upwards of 20 to 30 percent of cases).

When one of the sutures fuses early, it causes an asymmetrical forehead and brow. Unicoronal synostosis is characterized by a lack of forward growth on the affected side, resulting in flatness and retrusion. It is more frequently found on the left side of the head.

A common issue associated with this condition is the Harlequin deformity, where the eye socket on the affected side appears taller than the other eye, and the bridge of the nose is bent towards the affected side of the face. There is also typically a greater distance between the upper and lower eyelids on the affected side.

Bicoronal synostosis

Bicoronal synostosis is a premature fusion of the coronal sutures, which run from ear-to-ear over the head and meet at the soft spot in the middle of your baby’s skull.

Bicoronal synostosis often results in brachycephaly, characterized by a disproportionately wide, flat head. The closure of the suture prevents normal forward growth of the skull, forcing the head to grow from side to side, resulting in a flat back of the head and often an extreme forehead incline.

Metopic synostosis

Metopic synostosis (or trigonocephaly) is characterized by the early closure of the metopic suture during prenatal development. The metopic suture runs from the top of the head down the forehead to the nose.

Due to the early closure of this growth seam, your child’s forehead becomes triangular shaped when viewed from above, and her eyes may appear closer together. When looking at your child’s face, her forehead will appear to jut out in the middle.

Unlike other craniofacial abnormalities, metopic synostosis is generally an isolated condition. In rare cases, the presence of hypotelorism (close-set eyes) in trigonocephaly can be associated with other congenital anomalies.

Lambdoid synostosis

Lambdoid synostosis, also known as posterior plagiocephaly, is the premature fusion of one of lambdoid sutures, located on the back of the skull. Lambdoid synostosis is very rare and is the least common form of non-syndromic craniosynostosis.

It usually affects one side of the head, but in rare cases can involve both sutures.

Early closure of a lambdoid suture causes a flattening of the back of the head on the side where the suture has fused. On the affected side, the ear is often displaced, moved toward the back of the head or set lower than the ear on the non-affected side. An atypical bulge in the mastoid region is also generally visible.

Complex multiple suture synostosis

Multiple suture synostosis is a more serious condition than any other form of single suture craniosynostosis because it involves the premature fusion of multiple sutures in your baby's cranium. The premature closure can cause multiple head deformities and indicate underlying brain abnormalities such as hydrocephalus and Arnold-Chiari malformation.

The cause of multiple suture synostosis may be sporadic or genetic, though it is more likely to be associated with a genetic syndrome such as Apert, Crouzon or Pfeiffer syndrome.

Treatment of non-syndromic craniosynostosis

Treatment of single suture or poly-suture non-syndromic craniosynostosis depends on the suture involved, the extent of the anomaly, and the age of your child.

Left untreated, 10 to15 percent of patients with single suture synostosis will go on to develop elevated intracranial pressure that will require surgery. These craniofacial anomalies can also result in severe physical differences that patients find very difficult to live with. Surgery can help address these problems.

Surgical treatment of non-synromic craniosynostosis

CHOP’s Craniofacial Program offers the full spectrum of treatment options for patients with non-syndromic craniosynostosis. Your child’s care will be managed by the nation’s top pediatric plastic and reconstructive surgeons working closely with pediatric neurosurgery specialists.

Depending on the age of your child, the type of suture involved, and the degree of deformity, a variety of interventions may be recommended.

The traditional approach, which often gives the best long-term results, involves an ear-to-ear incision, a craniotomy performed by the neurosurgeon, and advancement and reshaping of the orbits (upper eye sockets) and forehead. These procedures are most often used in the treatment of metopic, unicoronal and bicoronal craniosynostosis.

Lambdoid synostosis is most often treated with an open procedure in which the closed suture is released and the posterior skull bones are reshaped and advanced to give symmetry and room for the brain to grow.

Closure of the sagittal suture is the most complex condition to treat. Various forms of therapy have been shown to be successful in treating sagittal synostosis. In very young children with a mild deformity, an open or minimally invasive removal of the closed suture followed by a period of helmet molding can be a successful treatment option.

A second approach in the treatment of sagittal synostosis is to perform a limited incision removal of the sagittal suture in combination with the placement of cranial springs. This treatment approach may improve the shape of the skull more dramatically than simple suture removal and cranial molding with a helmet.

In patients with a more established and severe deformity, a more formal open procedure to cut, reshape and reposition the bones may be required. In certain instances, a single intervention during which both the anterior and posterior skull are treated may suffice, while in more severe deformities, a staged procedure in which the anterior and posterior cranial vault are addressed, each as a separate undertaking, may be required.

Depending on the procedure your child has, surgery may range from a few hours to five or six hours. Following surgery, you can expect your child to spend one to two days in the intensive care unit for observation and an additional two to three days in the hospital before discharge.

At The Children’s Hospital of Philadelphia, our pediatric surgeons are experienced in performing the many different procedures your child may need. For more than 40 years, our Craniofacial Program has been on the cutting edge of managing the care of children with complex craniofacial anomalies. We have expertise in all major methods of managing these disorders, and will tailor the procedure to your child’s condition, always trying to achieve the best surgical result for both the short and long term. Your child’s surgeon will talk to you about all of the treatment options available.

Non-surgical treatment options

In mild cases of craniosynostosis, surgery may not be required.

For example, the metopic suture normally closes between 6 and 8 months of age. If it closes slightly early, it may cause a small ridge without any distinct changes in the shape of the skull. In these cases your child’s medical team may recommend conservative observation to monitor for any necessary treatment.

 

Reviewed by: Scott Bartlett, MD and Jesse Taylor, MD
Date: March 2014

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