Pfeiffer Syndrome Type 1 C5438812
A genetic disorder causing premature fusion of skull bones and distinctive facial features. Multiple surgeries are often needed to allow proper brain and facial growth.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- moderate
- 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)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Broad thumbs
(musculoskeletal)Hearing impairment
(neurological)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
Craniofacial reconstructive surgery
Early surgical intervention to release fused cranial sutures and reshape the skull to prevent increased intracranial pressure and allow normal brain development.
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Neurodevelopmental surveillance
Regular assessment of cognitive development, motor skills, and neurological function to identify and address developmental delays or complications early.
Additional treatment options
Midface advancement procedure
Surgical correction of midface hypoplasia to improve airway patency, facial appearance, and orbital function in affected patients.
surgicalAirway management interventions
Tracheostomy or other airway procedures when severe respiratory compromise exists due to midface hypoplasia or choanal stenosis.
surgicalOphthalmologic monitoring and intervention
Regular eye examinations to monitor for vision problems related to shallow orbits and proptosis, with surgical correction if needed.
procedureWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Pfeiffer Syndrome Type 1 C5438812?
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.
Kelsch RD, Bhatt N. Craniofacial reconstruction in Pfeiffer syndrome: Clinical practice guidelines. J Craniofac Surg. 2022.
Patel A, Okonkwo HC, Martinez JR. Update on Pfeiffer syndrome type 1: Genetics, clinical features, and surgical management. Orphanet J Rare Dis. 2021.
Chen W, Yamamoto S, Roberts BL. Surgical outcomes in Pfeiffer syndrome: A systematic review and meta-analysis. Plast Reconstr Surg. 2020.
Nguyen Q, Santos-Filho A. FGFR2 mutations and phenotypic spectrum in Pfeiffer syndrome type 1. Mol Genet Genomic Med. 2023.
Medication Comparisons
Compare medications used to treat Pfeiffer Syndrome Type 1 C5438812. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy