Craniosynostosis

Craniosynostosis is a condition whereby one or more of the bony plates in a child’s skull fuse prematurely and impair normal cranial growth. This condition occurs in roughly one in 2,000 children, and is typically identified within the first few months of life. Left untreated, children with craniosynostosis will go on to have lifelong deformities of their head and, in severe cases, visual problems, headaches and vomiting.

Most craniosynostosis occurs in an isolated manner, without the child suffering any additional congenital deformities of the face or limbs. Hereditary craniosynostosis does occur, but it is the exception rather than the rule; individuals born with isolated craniosynostosis are unlikely to have children with the same problem.

How is Craniosynostosis Diagnosed?

Often, the diagnosis of craniosynostosis can be made during an initial evaluation with a craniofacial specialist. An expert craniofacial surgeon can diagnose most forms of craniosynostosis based on the appearance of the child’s cranial deformity, as each type of craniosynostosis produces stereotypical changes in the shape of the skull. For more complicated cases or for syndromic patients, more detailed radiographic studies may be useful for both diagnostic and surgical planning purposes.

The most important distinction your child’s physician will make is between craniosynostosis and other, benign types of cranial deformity. Up to 50% of newborns will have some type of cranial deformity within the first few months of life, but most of these deformities are due to molding in the womb or from lying on the back of the head. Cranial deformities that result from external molding of the child’s head are broadly classified as plagiocephaly: These patients improve without the need for surgery.

We use a number of methods to diagnose cranial deformities, including our highly experienced craniofacial surgeons, in-office cranial measurements and same-day ultrasounds. In most cases, an accurate diagnosis can be made in one visit and without the need to expose patients to radiation or sedate them for lengthy radiographic studies.

Craniosynostosis Diagnostic Studies

StudyDescription
COMPUTED TOMOGRAPHY (CT)

• Detailed 3D images of the skull

• Most useful for complex or syndromic patients

• Uses radiation to create an image

• Usually not necessary for simple, non-syndromic cases

MAGNETIC RESOANANCE IMAGING (MRI)

• Best for imaging the brain

• Can create 3D images of the skull comparable to CT

• Uses magnetic waves to create an image

• Usually requires that the patient be sedated for the study

X-RAY

• Quick

• Can usually assess whether most of the major cranial sutures are open

• Not always possible to visualize all the cranial sutures

ULTRASOUND

• Quick

• Can usually assess whether most of the major cranial sutures are open

• No radiation or sedation

• Not accurate when examining the cranial suture in the middle of the forehead

What causes Craniosynostosis?

About 20% of the time, craniosynostosis occurs as one aspect of a broader craniofacial syndrome such as Aperts or Crouzon, and these types of syndromic craniosynostosis are often more prone to have multiple bony fusions and increased pressure within the head. Syndromic craniosynostosis patients will often require the assistance of multiple pediatric specialists working to address extremity, mouth, nose, eye, ear and cranial abnormalities at the same time.

The mechanism by which craniosynostosis arises is still not well understood, but some genetic mutations have been suggested in laboratory models.

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What are the signs and symptoms of Craniosynostosis?

Often, the diagnosis of craniosynostosis can be made during an initial evaluation with a craniofacial specialist. An expert craniofacial surgeon can diagnose most forms of craniosynostosis based on the appearance of the child’s cranial deformity, as each type of craniosynostosis produces stereotypical changes in the shape of the skull. For more complicated cases or for syndromic patients, more detailed radiographic studies may be useful for both diagnostic and surgical planning purposes.

The most important distinction your child’s physician will make is between craniosynostosis and other, benign types of cranial deformity. Up to 50% of newborns will have some type of cranial deformity within the first few months of life, but most of these deformities are due to molding in the womb or from lying on the back of the head. Cranial deformities that result from external molding of the child’s head are broadly classified as plagiocephaly: These patients improve without the need for surgery.

We use a number of methods to diagnose cranial deformities, including our highly experienced craniofacial surgeons, in-office cranial measurements and same-day ultrasounds. In most cases, an accurate diagnosis can be made in one visit and without the need to expose patients to radiation or sedate them for lengthy radiographic studies.

How is Craniosynostosis treated?

Very mild cases of craniosynostosis may not require surgery, but the majority of craniosynostosis patients will require surgical correction to address their deformity and return skull growth to normal. Surgical outcomes tend to be much better the earlier in life the patient receives surgical attention, likely due to the increased plasticity of the infant skull before 1 year of life. Early identification of craniosynostosis is the first step in treatment.

Surgery to correct craniosynostosis can be performed in several ways, depending on the age of the patient and the type of deformity. No single method has been shown to produce superior cosmetic or functional outcomes, and so our philosophy is to always employ the least invasive surgical technique appropriate for that child’s deformity. Children under 6 months of age often have a minimally invasive, endoscopic surgery. Older children will more commonly benefit from an open cranial reconstruction, performed by our joint plastic surgery and neurosurgery craniofacial team. But age alone is not the only factor in determining who is eligible for either procedure: Your craniofacial surgeon will consider your child’s entire medical condition before making their recommendation.

Long Term Care for Craniosynostosis

Late complications after surgical repair of craniosynostosis are rare, but your child will require continued monitoring for several years after surgery to look for late impacts to vision, secondary fusions of the skull, persistent skull defects, and trends in their neurodevelopment. Patients whose craniosynostosis was part of an overarching syndrome may require additional screening or treatment for other abnormalities of the face and ears as well.

Our multidisciplinary Craniofacial Clinic allows families to be seen by expert pediatric and surgical specialists from all craniofacial disciplines in a single location, providing comprehensive and convenient pre-and post-surgical care from birth to young adulthood.