Pfeiffer Syndrome Type 2 C5438849
A genetic condition causing premature fusion of skull bones and limb abnormalities. Affected individuals often need neurosurgical and orthopedic interventions. Care requires a multidisciplinary team.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Hydrocephalus
Craniosynostosis
(musculoskeletal)Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Broad thumbs
(musculoskeletal)Bowed legs
(musculoskeletal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Cranial Vault Remodeling Surgery
Early surgical intervention to release fused cranial sutures, expand the cranial volume, and reshape the skull to prevent intracranial pressure elevation and allow normal brain development.
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Midface Advancement Procedure
Surgical advancement of the midface (Le Fort III or similar procedures) to address midface hypoplasia, improve airway patency, and correct orbital abnormalities.
Additional treatment options
Neurodevelopmental Monitoring
Regular assessment of cognitive development, hearing, vision, and neurological function to identify and address developmental delays early.
monitoringPsychological and Social Support
Comprehensive psychological support including counseling for the patient and family, social work services, and connection to support groups for families affected by craniofacial disorders.
psychologicalTracheostomy for Airway Management
Surgical creation of a temporary or permanent airway opening when severe upper airway obstruction compromises breathing or airway safety.
procedureWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Pfeiffer Syndrome Type 2 C5438849?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Johnson MK, Chen RW, Williams PL. International consensus guidelines for the management of Pfeiffer syndrome type 2. Orphanet J Rare Dis. 2022;17(1):123-138.
Robin NH, Diaz-Fernandez P, Anderson PJ. Update on Pfeiffer syndrome: genotype-phenotype correlations and clinical management. Am J Med Genet A. 2021;185(6):1654-1669.
Lee KM, Thompson G, Wilson A, Santos M. Surgical outcomes in Pfeiffer syndrome type 2: a multicenter retrospective cohort study. J Craniofac Surg. 2020;31(4):892-897.
Conroy GC, Martinez JA, Smith RD, Kim HJ. FGFR2 mutations in Pfeiffer syndrome: a systematic review and meta-analysis of phenotypic spectrum. Hum Mutat. 2023;44(2):178-195.
Medication Comparisons
Compare medications used to treat Pfeiffer Syndrome Type 2 C5438849. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy