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Craniofacial Syndromes

What is a craniofacial syndrome?

Craniofacial syndromes are the result of the skull bones of a baby’s head not fusing together at the right time, or in the right way. This is dangerous, as the brain can become damaged if the skull does not allow the baby’s head to expand at the proper rate.

This condition is known as craniosynostosis or craniostenosis. These conditions are usually not associated with developmental problems, but some may be inherited and associated with other developmental problems.

When is the right time to make a diagnosis of craniofacial syndromes?

Some of these syndromes are apparent at birth while others are not obvious for several months, until a baby’s head grows larger. Since it is in the first year of life that the most rapid head growth occurs, it is usually the only significant time to diagnose and treat these conditions.

Some of these conditions are so obvious that a physician can make the diagnosis by just examining the baby. In other cases a CT scan is needed. Unfortunately sometimes no single radiological test is adequate to make a clear diagnosis. In these cases it may be best to wait a few weeks to months to see if the condition is going to progress.

Diagnosis of craniofacial syndrome

If a child is born with any of these malformations, a thorough evaluation by a pediatrician or neurologist is needed to diagnose the root of the problem.

  1. Your doctor will conduct a thorough physical and will ask for a detailed family and patient history.
  2. Your doctor may order imaging of the brain and face through an MRI and CT scan If the radiological study shows any evidence of these malformations, a neurosurgical consultation is recommended to develop the best treatment plan.

Why come to Johns Hopkins?

The Johns Hopkins difference involves multiple specialties in reviewing the cases of children with craniofacial syndromes. Neurosurgeons, pediatric craniofacial plastic surgeons, geneticists, occupational therapists, among others, join together to develop the treatment plan. The team will decide if surgery is the best option.

Learn more about our multidisciplinary care team.

Treatment for craniofacial disorders

The purpose of surgery is to correct the physical formation and maximize the functionality for the child. Most of these surgeries are very intensive, requiring removal, recontouring and replacement of the skull. Often the pediatric neurosurgeon performs the surgery in conjunction with a pediatric craniofacial plastic surgeon. Learn more about surgery for craniosynostosis.

Johns Hopkins pediatric neurosurgeons are fellowship trained in endoscopic approaches to these kinds of restoration surgeries. The benefits of an endoscopic approach provide a simpler and faster technique which minimizes blood loss and complications. In addition, the recovery time is reduced for the patient. These minimally invasive procedures are dependent upon the use of a helmet after the surgery to mold the head shape over time. In the end, the baby’s head attains a natural shape after the abnormal suture is removed through small incisions. There is minimal scarring and a decreased chance for requiring a blood transfusion. However, most babies are not candidates for this type of surgery after 3 months of age. Therefore, an early diagnosis of craniosynostosis and evaluation with a specialist are of utmost importance in order to have all of the current surgical options available.

In some cases, the team may perform a reconstruction procedure to reshape the skull. Many different techniques are available to the surgeon to secure the bones at the end of the operation, once the reshaping of the skull has taken place. In addition to surgical sutures and wires, very fine plates and screws can be used. These materials are often too small to be felt under the skin.

Learn more about our surgical expertise.

To request a consultation or make an appointment, please contact Johns Hopkins Pediatric Neurosurgery at 410-955-7337.

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Pediatric Neurosurgery: 410-955-7337


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