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PubMed This is a summary of 23 peer-reviewed journal articles Updated
Craniofacial Surgery

Surgical Care and Treatment Priorities

At a Glance

Surgical care for Pfeiffer syndrome requires a coordinated multidisciplinary approach. Treatment prioritizes securing a safe airway first, followed by expanding the skull in infancy to protect the growing brain, and finally advancing the midface in childhood to improve breathing and eye protection.

Managing Pfeiffer syndrome is a marathon, not a sprint. Because this condition affects several vital systems—breathing, brain growth, and vision—your child’s care will be coordinated by a multidisciplinary craniofacial team [1][2]. This team works together to prioritize surgeries based on your child’s immediate needs.

The Priority Checklist: Airway First

In the medical world, the “ABCs” (Airway, Breathing, Circulation) always come first. For a child with Pfeiffer syndrome, securing a safe way to breathe is the highest priority [3][4].

  • Airway Challenges: Many children have narrow nasal passages (choanal stenosis) or a large tongue relative to their jaw [5][6]. A more serious concern is tracheal cartilaginous sleeve (TCS), where the rings of the windpipe are fused together, making the airway stiff and prone to blockage [6][7].
  • Signs of Infant Respiratory Distress: It is vital for parents to know what an airway emergency looks like in an infant. Seek immediate medical attention if you see:
    • Chest retractions: The skin pulling in deeply under the ribs or at the neck with each breath.
    • Nasal flaring: The nostrils widening significantly with each breath.
    • Grunting: A short, low-pitched sound when breathing out.
    • Cyanosis: A blue or grayish tint around the lips, nose, or face.
  • Breathing Support:
    • CPAP/BiPAP: Non-invasive masks that push air into the lungs during sleep can often manage obstructive sleep apnea [8].
    • Tracheostomy: If the airway is severely blocked, a surgeon may create a small opening in the neck (tracheostomy) to ensure the child can breathe safely [4][5].

Protecting the Brain: Skull Expansion

Once the airway is stable, the focus shifts to the skull. Because the brain grows so fast in infancy, the skull must be expanded to prevent increased intracranial pressure (pressure inside the head) [9][10].

  • Posterior Vault Distraction (PVDO): This is a common early surgery. Surgeons “unstick” the bones at the back of the head and use small metal devices (distractors) to slowly expand the skull over several weeks. While it provides excellent room for the growing brain, the choice between PVDO or other methods depends entirely on your child’s specific skull anatomy [11][12].
  • Fronto-orbital Advancement (FOA): This surgery moves the forehead and the upper part of the eye sockets forward. It helps relieve pressure and provides better protection for the eyes if they are bulging (proptosis) [9][13].
  • Shunts and Decompressions: Sometimes the fluid in the brain doesn’t drain correctly, leading to hydrocephalus. A neurosurgeon may place a VP Shunt (a tube that drains the fluid) to relieve this. Additionally, if the lower part of the brain is squeezed near the spinal cord (a condition called Chiari malformation), a decompression surgery may be needed to create more space [14][15].

Improving the Face: Midface Distraction

As your child grows, the middle of their face may not keep up. This can cause the eyes to appear prominent and can contribute to breathing issues.

  • Le Fort III Distraction: This is a major surgery usually performed later in childhood or adolescence. Surgeons move the entire midface (cheeks, nose, and upper jaw) forward using distraction devices [16][17].
  • The Goal: Moving the midface forward expands the airway and creates deeper eye sockets to protect the eyes [18][19].

A Typical Treatment Decision Tree

Every child’s path is different, but the general logic follows this order:

  1. Emergency (Birth–1 Month): Stabilize breathing (CPAP or Tracheostomy) and protect the eyes with specialized drops or ointments [3][20].
  2. Infancy (3–12 Months): Expand the skull (PVDO or FOA) to make room for the growing brain [21][22].
  3. Childhood (Years 4–10+): Advance the midface (Le Fort III) to improve breathing and facial structure [16][23].

Next: Building Your Child’s Specialized Care Team | Previous: The Three Types | Back to Home

Common questions in this guide

What is the first priority when treating an infant with Pfeiffer syndrome?
Securing a safe airway and ensuring the infant can breathe properly is always the medical team's first priority. Because children with Pfeiffer syndrome may have narrow nasal passages or stiff windpipes, early interventions like CPAP or a tracheostomy are critical before focusing on other surgeries.
Why do babies with Pfeiffer syndrome need skull expansion surgery?
An infant's brain grows very rapidly, but in Pfeiffer syndrome, the skull bones may fuse too early. Surgeries like Posterior Vault Distraction (PVDO) or Fronto-orbital Advancement (FOA) expand the skull, preventing dangerous pressure buildup and making room for normal brain development.
What is a Le Fort III distraction procedure?
A Le Fort III distraction is a major surgery usually performed in childhood or adolescence to move the entire middle part of the face forward. This helps open up the airway for better breathing and creates deeper eye sockets to protect prominent eyes.
What are the signs of respiratory distress in an infant?
Signs of an airway emergency in an infant include deep pulling of the skin under the ribs or neck, widened nostrils with each breath, a grunting sound when exhaling, or a blue or grayish tint around the lips and face. If you notice any of these symptoms, seek immediate emergency medical care.
How is fluid buildup in the brain managed?
If fluid in the brain does not drain correctly, it can lead to a condition called hydrocephalus. A neurosurgeon can manage this by placing a VP shunt, which is a small tube that helps drain the excess fluid and relieves pressure on the growing brain.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What is the immediate priority for my child: securing the airway or expanding the skull to relieve pressure?
  2. 2.Has my child been evaluated for 'tracheal cartilaginous sleeve' (TCS) or other airway abnormalities beyond sleep apnea?
  3. 3.Does this team prefer Posterior Vault Distraction (PVDO) or Fronto-orbital Advancement (FOA) for my child’s first skull surgery, and why?
  4. 4.How do we decide if a tracheostomy is necessary, and what are the chances we can decannulate (remove it) later?
  5. 5.When would a Le Fort III distraction procedure be considered to help with my child's breathing or eye protection?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (23)
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    Pfeiffer Syndrome (Acrocephalosyndactyly) With Significant Syndactyly and Brachydactyly: A Case Report.

    Justus JO

    Clinical medicine insights. Case reports 2025; (18()):11795476251353333 doi:10.1177/11795476251353333.

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    Ophthalmic considerations in patients with Pfeiffer syndrome.

    Clark JD, Compton CJ, Tahiri Y, et al.

    American journal of ophthalmology case reports 2016; (2()):1-3 doi:10.1016/j.ajoc.2016.04.001.

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    Upper Airway Obstruction Trends in Craniofacial Syndromes: A Comparative Study.

    Alshammasi R, Moran J, Bracken S, et al.

    The Journal of craniofacial surgery 2025; (36(8)):3048-3054 doi:10.1097/SCS.0000000000011305.

    PMID: 40202210
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    Prolonged Ventilator Dependency in a Pediatric ICU Patient With Pfeiffer Syndrome Following Le Fort I Osteotomy and Distraction Osteogenesis: A Case Report.

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    Cureus 2024; (16(10)):e71617 doi:10.7759/cureus.71617.

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    Nasopharyngeal airway and subcranial space analysis in Pfeiffer syndrome.

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    The British journal of oral & maxillofacial surgery 2021; (59(5)):592-598 doi:10.1016/j.bjoms.2020.10.008.

    PMID: 33863588
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    Tracheal cartilaginous sleeve in Pfeiffer syndrome: lesson learnt from its rarity.

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    BMJ case reports 2021; (14(4)) doi:10.1136/bcr-2020-236888.

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    A Delayed Finding of a Tracheal Cartilaginous Sleeve in a Patient with Pfeiffer Syndrome Type 2 and a Complex Airway History.

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    Case report: A girl with witnessed sleep apnea.

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    Clinical and Genetic Studies of the First Monozygotic Twins with Pfeiffer Syndrome.

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    Comparing the Increased Intracranial Volume From Different Surgical Methods for Syndromic Craniosynostosis.

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    The Journal of craniofacial surgery 2022; (33(8)):2529-2533 doi:10.1097/SCS.0000000000008791.

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    Fronto-Orbital Advancement and Posterior Cranial Vault Expansion Using Distraction Osteogenesis in Patients With Multiple Craniosynostosis.

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    The Journal of craniofacial surgery 2021; (32(5)):1882-1885 doi:10.1097/SCS.0000000000007442.

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    First Vault Expansion in Apert and Crouzon-Pfeiffer Syndromes: Front or Back?

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    Feeding, Communication, Hydrocephalus, and Intracranial Hypertension in Patients With Severe FGFR2-Associated Pfeiffer Syndrome.

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    Pleural effusion from intrathoracic migration of a ventriculo-peritoneal shunt catheter: pediatric case report and review of the literature.

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    Clinical analysis of Le Fort III distraction for obstructive sleep apnea in pediatric patients with syndromic craniosynostosis.

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This page provides an educational overview of typical surgical timelines for Pfeiffer syndrome. Always consult your child's multidisciplinary craniofacial team for personalized treatment decisions and emergency care planning.

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