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Diagnosis of Craniosynostosis

What are the symptoms of craniosynostosis?

In infants with this condition, the most common signs are changes in the shape of the head and face. The appearance of the child's face may not be the same when compared to the other side. Other less frequent clinical findings may include the following:

  • a full or bulging fontanelle (soft spot located on the top of the head)
  • sleepiness (or less alert than usual)
  • scalp veins may be very noticeable
  • increased irritability
  • high-pitched cry
  • poor feeding
  • projectile vomiting
  • increasing head circumference
  • seizures
  • bulging eyes and an inability of the child to look upward with the head facing forward
  • developmental delays

The symptoms of craniosynostosis may resemble other conditions or medical problems. Always consult your child's physician for a diagnosis.

How is craniosynostosis diagnosed?

Craniosynostosis may be congenital (present at birth) or may be observed later, during a physical examination. The diagnosis is made after a thorough physical examination and after diagnostic testing. During the examination, your child's physician will obtain a complete prenatal and birth history of your child. He/she may ask if there is a family history of craniosynostosis or other head/face abnormalities. Your child's physician may also ask about developmental milestones since craniosynostosis can be associated with other neuromuscular disorders. Developmental delays may require further medical follow up for underlying problems.

During the examination, a measurement of the circumference of your child's head is taken and plotted on a graph to identify normal and abnormal ranges.

Diagnostic tests that may be performed to confirm the diagnosis of craniosynostosis include:

  • x-rays of the head – a diagnostic test that uses invisible electromagnetic energy beams to produce images of internal tissues and bones of the head onto film.
     
  • computed tomography scan (also called CT or CAT scan) of the head – a diagnostic imaging procedure that uses a combination of x-rays and computer technology to produce cross-sectional images (often called slices), both horizontally and vertically, of the head. A CT scan shows detailed images of any part of the body, including the bones, muscles, fat, and organs. CT scans are more detailed than general x-rays.
 

Craniosynostosis Resources:

Pediatric Neurosurgery | Craniosynostosis

Johns Hopkins neurosurgeon, Dr. Edward Ahn answers questions about what craniosynostosis is, how it is diagnosed and treated, what the prognosis is for children with the condition, and why you should consider Johns Hopkins for treatment.

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Craniosynostosis | Jack's Story

Born with pediatric craniosynostosis, Jack had minimally invasive surgery as an infant, performed by pediatric neurosurgeon Dr. Edward Ahn.

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Listen to pediatric neurosurgeon Dr. Edward Ahn talk about positional plagiocephaly and craniosynostosis in infants.

Watch the recording of Dr. Ahn’s online discussion about craniosynostosis.

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