Definition

What is craniosynostosis?

Craniosynostosis is a birth defect in which one or more of the fibrous joints between the bones of your baby’s skull (cranial sutures) close prematurely (fuse), before your baby’s brain is fully formed. Brain growth continues, giving the head a misshapen appearance.

Craniosynostosis usually involves fusion of a single cranial suture, but can involve more than one of the sutures in your baby’s skull (complex craniosynostosis). In rare cases, craniosynostosis is caused by certain genetic syndromes (syndromic craniosynostosis).

How common is craniosynostosis?

Craniosynostosis is rare, affecting an estimated 1 in every 1,800 to 3,000 children. Three out of every four cases affect boys. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of craniosynostosis?

The common symptoms of craniosynostosis are:

  • A misshapen skull, with the shape depending on which of the sutures are affected
  • An abnormal feeling or disappearing fontanel on your baby’s skull
  • Development of a raised, hard ridge along affected sutures
  • Slow or no growth of the head as your baby grows

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes craniosynostosis?

Craniosynostosis is the result of the premature fusion of different sections of the skull. This means the skull is unable to grow in affected areas.

When one area of the skull is prevented from growing, other areas may “overgrow” to compensate and limit the pressure developing around the brain. A lack of growth in some areas and compensatory growth in other areas will result in an altered head shape.

Craniosynostosis is usually classfied as either:

  • Nonsyndromic – there are no other birth defects and the cause is unknown
  • Syndromic – craniosynostosis is the result of one of several rare syndromes

A syndrome is a range of symptoms related to a common cause, which is usually – but not always – genetic.

Risk factors

What increases my risk for craniosynostosis?

There are many risk factors for craniosynostosis, such as:

  • White maternal race
  • Advanced maternal age
  • Male infant sex
  • Maternal smoking
  • Maternal residence at high altitude
  • Use of nitrosatable drugs (e.g., nitrofurantoin, chlordiazepoxide, chlorpheniramine)
  • Certain paternal occupations (e.g., agriculture and forestry, mechanics, repairmen)
  • Fertility treatments

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is craniosynostosis diagnosed?

Craniosynostosis requires evaluation by specialists, such as a pediatric neurosurgeon or plastic surgeon. Diagnosis of craniosynostosis may include:

  • Physical exam. Your doctor will feel your baby’s head for abnormalities such as suture ridges, and look for facial deformities.
  • Imaging studies. A computerized tomography (CT) scan of your baby’s skull can show whether any sutures have fused. Fused sutures are identifiable by their absence, because they’re invisible once fused, or by the ridging of the suture line. A laser scan and photographs also may be used to make precise measurements of the skull shape.
  • Genetic testing. If your doctor suspects an underlying genetic syndrome, genetic testing may help identify the syndrome.

How is craniosynostosis treated?

Mild cases of craniosynostosis may not need treatment. Your doctor may recommend a specially molded helmet to help reshape your baby’s head if the cranial sutures are open and the head shape is abnormal. In this situation, the molded helmet can assist your baby’s brain growth and correct the shape of the skull.

However, for most babies, surgery is the primary treatment. The type and timing of surgery depends on the type of craniosynostosis and whether there’s an underlying genetic syndrome.

The purpose of surgery is to correct the abnormal head shape, reduce or prevent pressure on the brain, create room for the brain to grow normally and improve your baby’s appearance. This involves a process of planning and surgery.

Surgical planning

Imaging studies can help surgeons develop a surgical procedure plan. Virtual surgical planning for treatment of craniosynostosis uses high-definition 3-D CT scans of your baby’s skull to construct a computer-simulated, individualized surgical plan. Based on that virtual surgical plan, customized templates are constructed to guide the procedure.

Surgery

A team that includes a specialist in surgery of the head and face (craniofacial surgeon) and a specialist in brain surgery (neurosurgeon) generally performs the procedure. Surgery can be done by endoscopic or open surgery. Both types of procedures generally produce very good cosmetic results with low risk of complications.

  • Endoscopic surgery. This minimally invasive surgery may be considered for babies up to age 6 months who have single-suture craniosynostosis. Using a lighted tube and camera (endoscope) inserted through small scalp incisions, the surgeon opens the affected suture to enable your baby’s brain to grow normally. Compared with an open procedure, endoscopic surgery has a smaller incision, typically involves only a one-night hospital stay and usually does not require a blood transfusion.
  • Open surgery. Generally, for babies older than 6 months, open surgery is done. The surgeon makes an incision in the scalp and cranial bones, then reshapes the affected portion of the skull. The skull position is held in place with plates and screws that are absorbable. Open surgery typically involves a three- or four-day hospital stay, and blood transfusion is usually necessary. It’s generally a one-time procedure, but in complex cases, multiple open surgeries are often required to correct the baby’s head shape.

Helmet therapy

After endoscopic surgery, visits at certain intervals are required to fit a series of helmets to help shape your baby’s skull. If open surgery is done, no helmet is needed afterward.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage craniosynostosis?

The following lifestyles and home remedies might help you cope with craniosynostosis:

  • Find a team of trusted professionals. You’ll need to make important decisions about your baby’s care. Medical centers with craniofacial specialty teams can offer you information about the disorder, coordinate your baby’s care among specialists, help you evaluate options and provide treatment.
  • Seek out other families. Talking to people who are dealing with similar challenges can provide you with information and emotional support. Ask your doctor about support groups in your community. If a group isn’t for you, maybe your doctor can put you in touch with a family who has dealt with craniosynostosis. Or you may be able to find group or individual support online.
  • Expect a bright future. Most children have normal cognitive development and achieve good cosmetic results after surgery. Early diagnosis and treatment are key.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: August 21, 2017 | Last Modified: August 21, 2017

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