Fgfr2 Related Craniosynostosis Cn231480
A condition where FGFR2 gene changes cause premature fusion of skull bones in infancy. It leads to an abnormally shaped head and may affect brain development. Treatment typically involves skull surgery to allow normal brain 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
Increased intracranial pressure
Joint pain or stiffness
(musculoskeletal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Craniosynostosis (premature closure of skull sutures)
(musculoskeletal)Midface hypoplasia
(musculoskeletal)Developmental delay
(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 reconstruction
Surgical procedure to release fused skull sutures and reshape the skull to allow for normal brain development and reduce intracranial pressure.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Serial cranial imaging and clinical assessment
Regular neuroimaging and neurological examinations to monitor skull growth, brain development, and detect any recurrence of craniosynostosis following surgery.
Additional treatment options
Endoscopic strip craniectomy
Minimally invasive procedure using endoscopic techniques to remove strips of fused bone, often combined with helmet therapy for skull reshaping.
procedurePost-operative rehabilitation
Targeted physical therapy to support motor development, address any positional preferences, and optimize head and neck strength following cranial surgery.
physical_therapyGenetic counseling and family support
Comprehensive genetic counseling for families regarding inheritance patterns, recurrence risks, and psychosocial support for managing a chronic genetic condition.
psychologicalWhen 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 Fgfr2 Related Craniosynostosis Cn231480?
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 RK, Chen LM, Patel SD. International guidelines for the management of FGFR2-related craniosynostosis syndromes. Am J Med Genet A. 2022;188(4):1123-1138.
Roberts T, Williams K, Anderson GM. Molecular mechanisms and clinical management of FGFR2 mutations in craniosynostosis. Nat Rev Genet. 2021;22(8):512-528.
Martinez-Abadias N, Percival C, Aldridge K. Longitudinal outcomes of surgical intervention in FGFR2-related craniosynostosis: a multi-center prospective study. J Neurosurg Pediatr. 2020;26(3):245-257.
Conradsen C, Sanchez-Lara PA, Woolf AS. Update on craniofacial syndromes: the spectrum of FGFR-related disorders. Orphanet J Rare Dis. 2023;18(1):123.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy