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PubMed This is a summary of 17 peer-reviewed journal articles Updated
Otolaryngology

Daily Life and Long-Term Outlook

At a Glance

The long-term outlook for children with Pfeiffer syndrome focuses on survivorship and quality of life. Caregivers must continuously monitor for signs of airway obstruction and increased intracranial pressure while supporting their child's feeding, speech, and psychosocial development.

Living with Pfeiffer syndrome means your family will become experts in your child’s “baseline”—their normal way of breathing, eating, and interacting. While the early years are often focused on major surgeries, the long-term goal is survivorship: ensuring your child can thrive, learn, and lead a high-quality life [1][2].

Chronic Monitoring: The “Big Two”

Throughout childhood and adolescence, two areas require constant “watchful waiting” by both you and your medical team:

1. Airway and Breathing

Even after successful surgeries, the shape of the face and throat can change as a child grows.

  • Sleep Apnea: Many children continue to experience obstructive sleep apnea (OSA), where breathing repeatedly stops and starts during sleep [3]. Long-term management might include non-invasive ventilation (like CPAP) or surgeries to clear obstructions, such as removing the tonsils [4][5].
  • Tracheal Health: If your child has a tracheal cartilaginous sleeve, they will need lifelong monitoring by an ENT specialist to ensure their windpipe remains clear and stable [6][7].

2. Intracranial Pressure (ICP)

The skull and brain must grow in harmony. If the skull doesn’t expand fast enough, pressure can build up inside the head.

  • Infant Signs of High Pressure: Because your baby cannot tell you their head hurts, you must watch for physical signs of increased brain pressure. Seek emergency care if you observe:
    • Projectile vomiting (not just normal spit-up).
    • A high-pitched, inconsolable cry.
    • Extreme lethargy (unusually sleepy or hard to wake up).
    • Sluggish or dramatically reduced feeding.
  • Older Child Signs: As your child grows, they may complain of frequent headaches (especially in the morning) or sudden changes in vision [8][9].
  • Ophthalmology Checks: One of the most important routine visits is to the eye doctor. They look at the optic nerve for swelling, called papilledema, which is a clinical “red flag” for high brain pressure [8].

Daily Management: Feeding and Speech

Daily life often revolves around supporting your child’s ability to eat and communicate.

  • Feeding Support: Children with severe Pfeiffer syndrome often have motor-based oral stage difficulties, meaning they struggle to move food around in their mouth and swallow it safely [10]. A speech-language pathologist (SLP) will help you develop strategies to prevent aspiration (food entering the lungs) [10][11].
  • Speech and Language: Because the facial structure and sometimes hearing are affected, many children benefit from early and consistent speech therapy to help them develop clear communication [10].

The Psychosocial Journey

The “burden of care”—the emotional weight of multiple surgeries and constant medical appointments—is real for both the child and the parents [12][13].

  • For the Child: Research shows that children with craniofacial conditions may face higher risks of anxiety or social challenges, particularly as they enter the school-age years (around age 8 to 10) [13][14].
  • For the Family: The stress of managing a rare disease can impact the whole family. High-volume centers often provide access to social workers and psychologists who use tools like the Psychosocial Assessment Tool (PAT) to help families find the support they need [15][16]. Connecting with community organizations like the Children’s Craniofacial Association (CCA) is also crucial for finding peer support.

Ultimately, the goal of this intensive monitoring is to allow the child to focus on just being a child, supported by a medical team that handles the complexities of their condition [17][16].

Previous: Building Your Child’s Specialized Care Team | Back to Home

Common questions in this guide

What are the signs of high brain pressure in a baby with Pfeiffer syndrome?
Signs of increased intracranial pressure in infants include projectile vomiting, a high-pitched inconsolable cry, extreme lethargy, and significantly reduced feeding. If you notice any of these symptoms, you should seek emergency medical care immediately.
Will my child with Pfeiffer syndrome need lifelong airway monitoring?
Yes, because the shape of the face and throat can change as your child grows. Many children require ongoing monitoring by an ENT specialist for conditions like obstructive sleep apnea or tracheal cartilaginous sleeves to ensure their airway remains clear and stable.
Why does my child with Pfeiffer syndrome need to see an eye doctor so frequently?
Routine eye exams are critical because the eye doctor checks the optic nerve for swelling, a condition called papilledema. This swelling is an important early warning sign that pressure is building up inside the skull.
How does Pfeiffer syndrome affect feeding and speech?
Children often experience motor-based oral difficulties that make it hard to move food around in the mouth and swallow safely. A speech-language pathologist can help develop strategies to prevent food from entering the lungs and provide therapies to improve clear communication.
When should we involve a psychologist or social worker in my child's care?
The stress of managing a rare disease and multiple surgeries can take an emotional toll on the entire family. Social workers and psychologists can help your family process the medical journey, and community organizations offer vital peer support for both parents and children.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.How often will my child need a formal sleep study (polysomnography) to monitor for changes in breathing?
  2. 2.What specific symptoms of increased intracranial pressure should I look for at home, and when should I call the emergency line?
  3. 3.How will we monitor for 'secondary' issues like hydrocephalus or hearing loss as my child grows?
  4. 4.At what age should we begin involving a psychologist or social worker to help my child process their medical journey?
  5. 5.What is the plan for weaning my child off airway or feeding adjuncts like a G-tube or CPAP?

Questions For You

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References

References (17)
  1. 1

    Pfeiffer Syndrome type 2; A case report of cranio-orbitofaciostenosis with bilateral choanal atresia at Muhimbili National Hospital, Tanzania.

    Amiji I, Kalezi ZE, Abdulshakoor A, et al.

    Clinical case reports 2020; (8(9)):1613-1617 doi:10.1002/ccr3.2959.

    PMID: 32983461
  2. 2

    A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality.

    Wenger TL, Hopper RA, Rosen A, et al.

    Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(2)):471-476 doi:10.1038/s41436-018-0073-x.

    PMID: 29915381
  3. 3

    Evaluation of the OSA treatment protocol in syndromic craniosynostosis during the first 6 years of life.

    de Goederen R, Yang S, Pullens B, et al.

    Journal of plastic, reconstructive & aesthetic surgery : JPRAS 2021; (74(10)):2674-2682 doi:10.1016/j.bjps.2021.03.033.

    PMID: 34112566
  4. 4

    Case report: A girl with witnessed sleep apnea.

    Wu S, Wang W, Han F, Xu L

    Frontiers in neurology 2023; (14()):1337236 doi:10.3389/fneur.2023.1337236.

    PMID: 38274866
  5. 5

    Adenotonsillectomy in children with syndromic craniosynostosis: a systematic review and meta-analysis.

    Saengthong P, Chaitusaney B, Hirunwiwatkul P, Charakorn N

    European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2019; (276(6)):1555-1560 doi:10.1007/s00405-019-05427-3.

    PMID: 30997567
  6. 6

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

    Mahmud N, Abdul Latif H, Mohd Zaki F, Goh BS

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

    PMID: 33811090
  7. 7

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

    Colomb C, Hippard HK, Canadas K, Watcha M

    A & A case reports 2015; (5(3)):36-9 doi:10.1213/XAA.0000000000000175.

    PMID: 26230305
  8. 8

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

    Porcaro F, Procaccini E, Paglietti MG, et al.

    Italian journal of pediatrics 2018; (44(1)):42 doi:10.1186/s13052-018-0480-2.

    PMID: 29587815
  9. 9

    Hydrocephalus and Chiari malformation pathophysiology in FGFR2-related faciocraniosynostosis: A review.

    Coll G, El Ouadih Y, Abed Rabbo F, et al.

    Neuro-Chirurgie 2019; (65(5)):264-268 doi:10.1016/j.neuchi.2019.09.001.

    PMID: 31525395
  10. 10

    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
  11. 11

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

    Lee C, Alhaj Z, Almubaid Z, et al.

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

    PMID: 39553148
  12. 12

    Analytical study of the psychosocial impact of malocclusion and maxillofacial deformity in patients undergoing orthodontic treatment.

    Rai A, Kumari M, Kumar T, et al.

    Journal of medicine and life 2021; (14(1)):21-31 doi:10.25122/jml-2020-0022.

    PMID: 33767781
  13. 13

    Long-Term Effect of Multiple Operations on Psychosocial Function in Teenage Cleft Lip and Palate Patients.

    Potemra HMK, Lin J, Bertrand AA, et al.

    Plastic and reconstructive surgery 2020; (146(1)):61e-68e doi:10.1097/PRS.0000000000006905.

    PMID: 32590656
  14. 14

    Age-Related Differences in Psychosocial Function of Children with Craniofacial Anomalies.

    Volpicelli EJ, Pfaff MJ, Hakimi K, et al.

    Plastic and reconstructive surgery 2017; (140(4)):776-784 doi:10.1097/PRS.0000000000003687.

    PMID: 28953730
  15. 15

    Identifying Psychosocial Risk Factors Among Families of Children With Craniofacial Conditions: Validation of the Psychosocial Assessment Tool-Craniofacial Version.

    Crerand CE, Kapa HM, Litteral J, et al.

    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2018; (55(4)):536-545 doi:10.1177/1055665617748010.

    PMID: 29315004
  16. 16

    Impact of a Multidisciplinary Craniofacial Clinic for Patients With Craniofacial Syndromes on Patient Satisfaction and Outcome.

    Hoffman C, Yuan M, Boyke A, et al.

    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2020; (57(12)):1357-1361 doi:10.1177/1055665620948767.

    PMID: 32851873
  17. 17

    A European Survey on Access to Mental Health Care Services Within ERN CRANIO.

    Feragen KJB, Gavelle P, Millgård M, Kljajić M

    The Journal of craniofacial surgery 2025; (36(8)):2984-2989 doi:10.1097/SCS.0000000000011282.

    PMID: 40728917

This page provides educational information on managing Pfeiffer syndrome in daily life. Always consult your child's craniofacial care team for specific monitoring, emergency protocols, and treatment advice.

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