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

Building Your Child's Specialized Care Team

At a Glance

Children with Pfeiffer syndrome require care from a specialized, multidisciplinary craniofacial center. Your child's team should include craniofacial surgeons, neurosurgeons, geneticists, and ENTs working together to coordinate complex surgical, airway, and developmental care.

Because Pfeiffer syndrome is so rare, most local doctors and pediatricians will never have seen a case in their entire career. For this reason, it is vital to find a specialized craniofacial center that uses a multidisciplinary team model [1][2].

A “multidisciplinary” team means that many different specialists—each an expert in one part of your child’s body—work together to create a single, unified care plan [3][4].

The Core Specialist Team

Your child’s team should include the following specialists, all of whom have experience specifically with syndromic craniosynostosis (conditions where the skull fuses due to a genetic syndrome):

  • Craniofacial Surgeon: Often a plastic surgeon or neurosurgeon with extra training. They lead the planning for skull and facial reconstructions [5][6].
  • Neurosurgeon: Focuses on protecting the brain, monitoring for increased intracranial pressure, and performing skull expansions alongside the craniofacial surgeon [7][8].
  • Medical Geneticist: Confirms the diagnosis through testing (like whole-exome sequencing) and helps you understand how the FGFR1 or FGFR2 mutation might affect your child’s future health [9][10].
  • Otolaryngologist (ENT) and Pulmonologist: These doctors manage the airway. They look for issues like choanal stenosis (blocked nasal passages) or tracheal cartilaginous sleeve [11][12].
  • Speech-Language Pathologist (SLP): While they are known for speech, in infancy their most critical role is managing feeding and swallowing [7][13].
  • Ophthalmologist: A pediatric eye specialist who monitors for vision issues and protects the eyes if they are bulging (proptosis) [14][6].
  • Physical and Occupational Therapists (PT/OT): These specialists are crucial for helping your child achieve motor milestones (like crawling and walking) and fine motor skills (like holding a pencil), especially given the unique anatomy of their broad thumbs and toes [5].

Why Feeding is a Priority

Feeding and swallowing issues are very common in Pfeiffer syndrome. This happens because the shape of the face can make it hard for the baby to coordinate sucking, swallowing, and breathing [7]. The SLP will perform regular reviews to ensure your child is gaining weight and that food or liquid isn’t accidentally entering the lungs (aspiration) [7].

Preparing for Your First Visit

When you visit a specialized center for the first time, you are essentially “interviewing” them to be your child’s lifelong partners in care. To make the most of this visit, you should bring the following medical artifacts:

  1. Genetic Reports: The full printout of the genetic test results, showing the specific mutation [9].
  2. Imaging Disks: Any HRCT (High-Resolution CT scans) or MRIs. The team will want to see the raw images, not just the written report [15].
  3. Sleep Study Data: If your child has had a polysomnography (sleep study), bring the results so the ENT can evaluate their breathing [16][17].
  4. Growth Charts: Records of your child’s weight and height gain since birth.

How to Evaluate a Center

Look for a center accredited by the American Cleft Palate-Craniofacial Association (ACPA) [18]. High-volume centers—those that treat many children with these rare conditions every year—often have more experience with advanced techniques like Virtual Surgical Planning (VSP) and Posterior Vault Distraction (PVDO), which can lead to better outcomes [19][20][21].

Don’t be afraid to ask how the team communicates. The best teams have a Team Coordinator who acts as your “home base” to help you navigate appointments and coordinate between all these different doctors [22][23].

Next: Daily Life and Long-Term Outlook | Previous: Surgical Care | Back to Home

Common questions in this guide

What type of center is best for treating Pfeiffer syndrome?
You should look for a specialized craniofacial center accredited by the American Cleft Palate-Craniofacial Association (ACPA). High-volume centers that treat many children with rare craniofacial conditions are better equipped to handle complex surgeries and provide coordinated multidisciplinary care.
Which specialists are essential for my child's Pfeiffer syndrome care team?
A core care team typically includes a craniofacial surgeon, neurosurgeon, medical geneticist, ear, nose, and throat (ENT) specialist, pulmonologist, ophthalmologist, speech-language pathologist, and physical and occupational therapists.
Why is a speech-language pathologist involved when my child is still an infant?
While speech-language pathologists help with communication later on, their most critical role in infancy is managing feeding and swallowing. Children with Pfeiffer syndrome often have facial differences that make coordinating sucking, swallowing, and breathing difficult, which can lead to severe feeding issues.
What medical records should I bring to our first visit at a craniofacial center?
You should bring all genetic test reports detailing your child's specific mutation, original imaging disks like CT or MRI scans, results from any sleep studies, and your child's growth charts tracking weight and height.
How do I know if a specialist team is experienced enough to treat my child?
You can ask the team how many children with syndromic craniosynostosis they treat each year. You should also ask if they frequently use advanced techniques like Virtual Surgical Planning and Posterior Vault Distraction for infants with Pfeiffer syndrome.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Is this team accredited by the American Cleft Palate-Craniofacial Association (ACPA)?
  2. 2.How many children with syndromic craniosynostosis (specifically Pfeiffer, Apert, or Crouzon) do you treat each year?
  3. 3.Who is my primary point of contact or Care Coordinator when I have an urgent question or need to schedule multiple specialists?
  4. 4.How often does the entire multidisciplinary team meet together to discuss my child’s specific case?
  5. 5.Which specific surgical techniques (like Posterior Vault Distraction or Virtual Surgical Planning) do you use most frequently for infants with Pfeiffer syndrome?

Questions For You

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References

References (23)
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    Syndromic Craniosynostosis.

    Sawh-Martinez R, Steinbacher DM

    Clinics in plastic surgery 2019; (46(2)):141-155 doi:10.1016/j.cps.2018.11.009.

    PMID: 30851747
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    Multidisciplinary care of craniosynostosis.

    Buchanan EP, Xue Y, Xue AS, et al.

    Journal of multidisciplinary healthcare 2017; (10()):263-270 doi:10.2147/JMDH.S100248.

    PMID: 28740400
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    The Impact of Social Determinants of Health in Facial and Craniomaxillofacial Reconstruction: Can We Do Better?

    Khetpal S, Sasson DC, Lopez J, et al.

    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2022; (59(7)):938-945 doi:10.1177/10556656211037510.

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    Improving Craniofacial Team Collaboration: A Multicenter Interview Study of Effective Team Meetings.

    Hollingsworth E, Shields BH, Rutter C, et al.

    Journal of multidisciplinary healthcare 2024; (17()):3589-3603 doi:10.2147/JMDH.S457581.

    PMID: 39070687
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    Pfeiffer Syndrome (Acrocephalosyndactyly) With Significant Syndactyly and Brachydactyly: A Case Report.

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    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.

    PMID: 29503887
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    Feeding, Communication, Hydrocephalus, and Intracranial Hypertension in Patients With Severe FGFR2-Associated Pfeiffer Syndrome.

    Kilcoyne S, Potter KR, Gordon Z, et al.

    The Journal of craniofacial surgery 2021; (32(1)):134-140 doi:10.1097/SCS.0000000000007153.

    PMID: 33074973
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    Highlighting posterior cranial vault expansion remodeling for treating various types of craniosynostosis in children.

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    Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum.

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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.

    PMID: 33811090
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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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    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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    The ophthalmic sequelae of Pfeiffer syndrome and the long-term visual outcomes after craniofacial surgery.

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    Temporal bone thickness analysis in craniofacial anomalies: key considerations for bone conduction hearing implants.

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    Sleep-Disordered Breathing and Airway Assessment Using Polysomnography in Pediatric Patients With Craniofacial Disorders.

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This page provides educational information about building a multidisciplinary care team for Pfeiffer syndrome. It is not intended to replace professional medical advice from a qualified healthcare provider.

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