Syndromic Craniosynostosis

What is Syndromic Craniosynostosis?

Syndromic craniosynostosis is a rare group of conditions that occur when the bones of a baby's skull fuse too early.

Usually, these bones remain flexible and loose so they can expand as the brain grows in the first few years of a child's life. When the bones fuse prematurely, skull and brain growth can be abnormal. In addition, children with syndromic craniosynostosis may develop facial and limb deformities as well as problems with breathing, speech, hearing, and eating.

Syndromic craniosynostosis is genetic. Doctors use another term, non-syndromic or isolated craniosynostosis, when the skull bones fuse early for other, often unknown, reasons.

In isolated craniosynostosis, fusion usually only occurs in one location.

In children with syndromic forms of craniosynostosis, fusion is more often found in several locations in the skull. This can cause a higher risk of complications compared to isolated craniosynostosis.

Overall, craniosynostosis occurs in about one in every 2,500 live births, although syndromic craniosynostosis is more rare.


Syndromic Craniosynostosis Causes

Syndromic craniosynostosis is caused by any one of several genetic mutations, which means your child is born with it. It may be inherited, or it can happen when one of your child’s genes mutate. There are many different syndromes that can cause craniosynostosis. The most common include:

  • Apert Syndrome
  • Crouzon Syndrome
  • Muenke Syndrome
  • Pfeiffer Syndrome
  • Saethre-Chotzen Syndrome 

Syndromic Craniosynostosis Complications

Complications from untreated syndromic craniosynostosis can include:

  • Trouble with breathing
  • Trouble with feeding
  • Irritability
  • Seizures
  • Developmental delays
  • Intellectual disabilities
  • Speech and language problems
  • Vision problems including blindness
  • Sleep apnea
  • Hearing loss
  • Dental problems

Symptoms & Diagnosis

Syndromic Craniosynostosis Symptoms

Symptoms of syndromic craniosynostosis are generally recognized shortly after birth. They include:

  • A misshapen skull
  • Lack of a fontanel, or "soft spot" on the top of your baby's head
  • Little to no growth of the head as your child grows
  • Eyes that look unusually large or prominent
  • Flatness in the middle of the face
  • Breathing problems
  • Deformities in the hands and feet

Diagnosing Syndromic Craniosynostosis

The signs of syndromic craniosynostosis are usually noticeable at birth and will become more pronounced as your baby grows. Most noticeably, the head and face may look misshapen. What shape and how severe it is depends on how many sutures (places where the bones fuse) have closed early.

During well-child visits, your doctor will measure the growth of your baby's head. Talk to your pediatrician if you have concerns about the shape or size of your child's head.


Syndromic Craniosynostosis Treatment

Syndromic craniosynostosis treatment should begin as soon as possible. With early diagnosis and treatment, your child has the best chance of achieving normal brain development and good cosmetic results.

Treatments vary based on how the condition specifically affects your child, but it's likely that your doctors will recommend surgery. It's important to find a surgical team who specialize in craniofacial surgery. Your doctors at the UPMC Cleft and Craniofacial Center can recommend a treatment plan specific for the needs of your child.

At UPMC Children's Hospital of Pittsburgh, we offer many different techniques to meet your child’s individual needs. These include open cranial vault remodeling procedures such as fronto-orbital advancements, minimally invasive choices, such as:

  • Endoscopic strip craniectomies and spring-assisted surgery
  • Craniofacial distraction osteogenesis

Open Cranial Vault Remodeling

For most children with syndromic forms of craniosynostosis, open procedures are required to keep the brain healthy. In these procedures, your surgeon will remove a section of the skull before reshaping it and replacing it in a new position. This surgery is typically performed beginning around 9 months of age.

Minimally invasive Craniosynostosis surgery 

For some children with syndromic craniosynostosis, minimally invasive procedures may be offered to reshape the skull and provide room to the growing brain. These procedures are performed earlier through smaller incisions and require either the placement of a helmet or springs to help reshape the skull after the surgery is over.

Cranial vault distraction osteogenesis

For most patients with syndromic craniosynostosis affecting more than one suture, cranial vault distraction osteogenesis is one of the first surgeries they will have. In this surgery, your surgeon will free up part of the skull and place devices called distractors which allow the skull to expand over a few weeks time. This technique will allow your child’s skull to expand quickly to keep the brain healthy.

Contact Us

Meet our team at UPMC Children's Hospital of Pittsburgh's Cleft-Craniofacial Center and learn about our treatment options, or contact UPMC Children's Hospital of Pittsburgh at 412-692-8650.