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Craniosynostosis

Compassionate Care from Board-Certified Pediatric Neurologists

Most parents have never heard of the genetic disorder craniosynostosis before their infant is diagnosed. At The Department of Neurosurgery at Rutgers Health and RWJBarnabas Health, our board-certified pediatric neurologists and neurosurgeons treat children with this condition. As experts in the field of neurology, neurosurgery, and craniofacial defects, we have a multidisciplinary team to care for your baby affected with craniosynostosis. By working with a knowledgeable team experienced in craniosynostosis treatment, your child will be treated with the latest breakthroughs in treatment.

What Is Craniosynostosis?

Craniosynostosis is a rare birth defect in which the skull bones fuse together too early, before the baby’s brain is fully formed. Per the Centers for Disease Control and Prevention (CDC), craniosynostosis affects every 4 in 10,000 live births. Although most babies with craniosynostosis are otherwise healthy, the condition can cause significant deformity, developmental delays, permanent brain damage, or intellectual disabilities, especially if left untreated.

To understand craniosynostosis, it helps to understand the anatomy of the skull and how the skull bones are supposed to fuse in young children. A normal skull has several plates of bone which are separated by fibrous joints called sutures. In babies, these bones should not fuse before birth. In fact, they are usually closed by age 2-3. In craniosynostosis patients, one or more of the sutures close prematurely, before the brain is fully developed. As brain growth continues, the head becomes misshapen as a result of limited space in which to grow.

There are different types of craniosynostosis, including:

  • Sagittal synostosis: This is the most common type of craniosynostosis and involves premature fusion of the suture running from front to back of the skull at the top, forcing the head to grow long and narrow. This causes a head shape called scaphocephaly.

  • Coronal synostosis: The coronal sutures, which run on the top of the skull from ear to ear, cause the baby’s head to flatten on the affected side. It may be unicoronal (one side affected) or bicoronal (affecting both sides).

  • Metopic synostosis: The metopic suture runs from the top of the bridge of the nose through the forehead’s midline. The shape it causes is a triangular forehead and a wide back part of the head, known as trigonocephaly.

  • Lambdoid synostosis: The rarest type of craniosynostosis, lambdoid synostosis involves the lambdoid suture in the back of the head. It can cause the infant’s head to have a flat appearance on one side, with one ear higher than the other ear.

Symptoms of Craniosynostosis

The telltale sign is a misshapen head when a baby is born, and this may be the first and only symptom. The newborn may also have a very asymmetrical facial appearance and a small or absent “soft spot” (fontanelle).

Other common signs of craniosynostosis include:

  • Lack of alertness

  • Very prominent scalp veins

  • Irritability

  • High-pitched crying

  • Poor feeding

  • Projectile vomiting

  • Large head

  • Seizures

  • Bulging eyes

  • Developmental delays

  • Slow or no growth of the head as the child grows

What Causes Craniosynostosis?

The cause of craniosynostosis remains unknown, but it is related to gene mutations. In many cases, though, researchers believe craniosynostosis is caused by environmental factors and if the mother eats, drinks, or takes medications that can affect pregnancy.

Research by the CDC has found that some factors correlate with having a baby born with craniosynostosis:

  • Maternal thyroid disease: Having thyroid disease or receiving thyroid disease treatment during pregnancy gives women a higher chance of having an infant born with craniosynostosis.

  • Certain medications: If the mother took a fertility medication called clomiphene citrate before or during her pregnancy, it increases the likelihood of craniosynostosis in an infant.

  • Genetic syndromes: Certain syndromes, such as Apert, Pfeiffer, and Crouzon syndromes, can affect skull development. If a genetic syndrome is suspected, genetic testing may be useful to identify the syndrome.

The odds of two parents having more than one child born with craniosynostosis is extremely slim, 0-4%. However, the chances of your future grandchildren being affected is higher.

Craniosynostosis Diagnosis

Based on the symptoms, a pediatrician can identify craniosynostosis during a physical exam. To confirm the diagnosis, your baby’s doctor may request further tests, such as a special x-ray test called a CT scan. A CT scan can show the details of the skull and brain and how the brain is growing.

A misshapen head may not be craniosynostosis. Certain other conditions, such as hydrocephalus, also cause an abnormally-shaped head. Another possible cause is if a baby spends too much time sleeping on their back or side, which can flatten the back part of the head. To avoid this, it is recommended that you make regular position changes, and if it is a significant problem, helmet therapy can help reshape the head.

Craniosynostosis Treatment

Depending on the degree of deformity, a child may or may not need surgery to correct their craniosynostosis. Many infants, however, will require surgery within the first year of life to relieve brain pressure, correct the misshapen appearance, and allow for proper brain growth. Most pediatric neurosurgeons recommend waiting until the child is between 4 to 8 months old to operate, as there is a lower risk at that age. About 10 to 20% of patients who have had one operation will need further operations to correct small, remaining facial and head deformities.

Surgical treatment options for craniosynostosis include:

  • Endoscopic surgery: This minimally-invasive surgery involves making small scalp incisions and using a lighted tube and camera, called an endoscope, to access the affected suture(s). This is the preferred method for babies up to 6 months of age, as it only requires a one-night hospital stay and, usually, there is no need for a blood transfusion. After endoscopic surgery, the baby is required to wear a series of fitted helmets to help shape the skull.

  • Open surgery: Babies over 6 months of age usually have open surgery. The pediatric neurosurgeon carefully makes an incision through the scalp and cranial bones to reshape the affected part(s) of the skull. The skull position is then held in place by absorbable plates and screws. Typically, infants must stay at the hospital for 3-4 days and require a blood transfusion. In complex cases, babies may need multiple open surgeries to correct the head shape. No helmet is necessary after this surgery.

After surgery, the infant is usually transferred to the intensive care unit (ICU) for close monitoring. The face and eyelids may be swollen after the operation, which is normal. Complications after surgery may include fever, vomiting, irritability, swelling along the incision areas, and fatigue.

During recovery, and for the rest of the baby’s life, it’s important to have frequent, ongoing medical evaluations to ensure the proper development of the skull, facial bones, and brain.

Request an appointment online now or call 833-656-3876.