When craniosynostosis is related to a genetic syndrome, it is called syndromic craniosynostosis.

What is syndromic craniosynostosis?

Syndromic craniosynostosis is a type of craniosynostosis, a condition in which the joints (sutures) between the bones of the skull fuse early. Craniosynostosis restricts head growth and causes an atypical head shape. When craniosynostosis is caused by a genetic anomaly or syndrome, it is called syndromic craniosynostosis.

With non-syndromic craniosynostosis, there is usually early fusion of a single suture and only the skull is affected. With syndromic craniosynostosis, multiple sutures may close early, causing more severe differences in the shape of the head and face, along with other symptoms, such as limb differences and underdeveloped or missing bones in the face (midface hypoplasia).

Syndromic Craniosynostosis Causes and Symptoms

Syndromic craniosynostosis is caused by a genetic anomaly, which can be inherited from a parent or occur spontaneously. Researchers have yet to identify the genetic cause of every case of syndromic craniosynostosis, but they continue to find new genes.

Each of the syndromes associated with craniosynostosis causes different abnormalities of the skull and face, along with other symptoms. The most common pattern of suture fusion in syndromic craniosynostosis is fusion of the coronal suture on both sides of the head, called bicoronal craniosynostosis.

The known syndromes include:

• Crouzon syndrome: This is the most common genetic syndrome related to craniosynostosis. A child with this syndrome may have:
  • Bicoronal craniosynostosis: fusion of coronal sutures on both sides. This results in a short (from front to back), wide and tall skull with flattened forehead and back of the head.
  • Facial anomalies, including underdeveloped or missing facial bones (midface hypoplasia), such as an underdeveloped upper jaw causing an underbite, as well as protruding and widely set eyes and a beaked nose.
• Apert syndrome: A child with this syndrome may have:
  • Bicoronal craniosynostosis: fusion of coronal sutures on both sides. This results in a short (from front to back), wide and tall skull with flattened forehead and back of the head. Other types of craniosynostosis are also possible.
  • Facial anomalies, including underdeveloped upper jaw causing an underbite, as well as protruding and widely set eyes and a small, flat nose.
  • Abnormalities in the arms and legs, including multiple fused fingers resulting in a “mitten hand.” Apert syndrome is associated with the most severe abnormalities in the arms and legs compared with other syndromes.
• Carpenter syndrome: A child with this syndrome may have:
  • Multisuture craniosynostosis that may involve coronal, lambdoid and sagittal sutures.
  • Facial anomalies, including a flat nose bridge and underdeveloped jaw bones, as well as eyebrow and eyelid abnormalities.
  • Abnormalities in the arms and legs, including extra toes and short or curved fingers and toes.
• Pfeiffer syndrome: A child with this syndrome may have:
  • Coronal craniosynostosis with fusion of sutures on one or both sides. Multisuture craniosynostosis is also possible with some types of Pfeiffer syndrome.
  • Abnormalities in the arms and legs, including wide and partially fused fingers and toes.
  • Facial anomalies, including protruding eyes.
• Saethre-Chotzen syndrome: A child with this syndrome may have:
• Craniosynostosis involving coronal, lambdoid and/or metopic sutures, often resulting in a tall, flat forehead.
• Facial anomalies, including asymmetric face with a curved nose and droopy upper eyelid.
• Abnormalities in the arms and legs, including fused fingers and toes.

Syndromic Craniosynostosis Complications

Children with syndromic craniosynostosis and multiple fused sutures are more likely to develop increased pressure in the skull due to restricted head growth. This can cause headaches, developmental delays, seizures and vision loss.

Children who have significantly underdeveloped facial bones (midface hypoplasia) may develop related symptoms:

• Irritation of the eyes
• Airway obstruction
• Obstructive sleep apnea
• Dental anomalies

Diagnosis of Syndromic Craniosynostosis

The steps to diagnose syndromic craniosynostosis may include:

• A complete prenatal and birth history, including family history of craniosynostosis or other head or face abnormalities.
• Physical exam. The doctor feels the baby’s head and measures its circumference.
• Imaging tests such as CT scan, MRI or ultrasound to examine the bones of the skull and evaluate the brain.
• Genetic testing and a consultation with a geneticist to help identify genetic syndromes that could be related to the condition.

In addition to confirming syndromic craniosynostosis and the related syndrome, children with this condition may benefit from evaluation by multiple pediatric specialists:

• Plastic surgeon and neurosurgeon, to determine the best approaches to treating craniosynostosis and restoring facial symmetry
• Ophthalmologist, to evaluate the impact on vision and function of the eyes
• ENT specialist and audiologist, to assess hearing and speech
• Pediatrician, to perform regular eye exams to look for signs of increased intracranial pressure
• Dentist and orthodontist, to assess dental anomalies
• Speech therapist, to evaluate communication and swallowing
• Sleep experts, to conduct an overnight sleep study (polysomnogram) for children who develop symptoms of sleep apnea

Syndromic Craniosynostosis Treatment

Syndromic craniosynostosis treatment requires a complex approach to address the different issues caused by the genetic syndrome. Multiple surgeries may be needed to correct the following:

• The shape of the skull to decrease the pressure on the brain
• Facial differences and asymmetry
• The jaw and teeth
• Other anomalies such as malformed fingers and toes

Surgery to Expand the Skull

Children with syndromic craniosynostosis need surgery to expand the skull and relieve pressure on the brain. These procedures are performed by a pediatric plastic surgeon and a pediatric neurosurgeon. The surgeons will discuss the surgical options and will help select the best procedure for your child.

Procedures used to expand the skull in children with craniosynostosis include:

• Minimally invasive suturectomy with helmet therapy: The fused sutures are removed, and the child wears a helmet to help reshape the skull while new bone forms.
• Posterior cranial vault distraction osteogenesis: Part of the bones in the back of the skull are removed to create a gap, then devices are placed in the gap to pull the edges apart and encourage new bone growth in between.
• Cranial vault remodeling: The bones at the top of the skull are removed, reshaped and then placed back in the desired position.
• Fronto-orbital advancement: The bones of the forehead and the upper eye sockets are separated from the rest of the skull and moved forward.

Children with syndromic craniosynostosis may need two or more procedures before they are fully grown. Some children need an additional procedure to place a shunt to drain cerebrospinal fluid and relieve intracranial pressure.

Learn more about craniosynostosis surgery.

Surgery to Restore Facial Structure

Children who have underdeveloped or missing bones in the face (midface hypoplasia) often need surgery to advance the midface forward to form a more natural facial contour. The midface includes the bones of the nose, cheeks, the upper jaw and the lower eye socket. This procedure also helps protect the eyes, treat obstructive sleep apnea and bring teeth closer together.

Midface advancement is commonly done after a child is 7–8 years old. Delaying surgery decreases the chances it will need to be repeated.

This procedure can be done using different techniques, which sometimes can be combined:

• Distraction osteogenesis: This is the most common approach; during this procedure, the bones are gradually pulled apart to allow new bone to grow. This helps move the midface forward by lengthening some of the bones. Some children need to wear an external distractor device, also known as a “halo.” Others can be treated with internal distractor devices that are hidden under the skin.
• Osteotomy: Different types of osteotomies can be used to cut through the bones to be able to move them to the desired location and then secure them with metal hardware or bone grafts:
  • Le Fort III osteotomy
  • Monobloc osteotomy
  • Facial bipartition osteotomy

Corrective Jaw Surgery

Many children with syndromic craniosynostosis also need orthognathic surgery (corrective jaw surgery) when they are finished growing. This surgery helps fix how the teeth fit together and helps improve breathing and appearance.

Procedures to correct the jaws may include:

• Le Fort I osteotomy to advance the upper jaw.
• Operation on the lower jaw to allow further advancement.

The child will likely need to wear braces for one to two years before the surgery and for six months after to improve the alignment of the teeth. Children must wear their retainers after surgery to prevent the teeth from shifting and compromising the outcome.

What is Orthognathic (Corrective Jaw) Surgery?

Other Surgeries 

Children with complex anomalies in the arms and legs, such as missing or fused fingers and toes, may also need reconstructive surgery to address these conditions.