Crouzon syndrome is a genetically inherited condition characterized by multiple suture craniosynostosis, specifically the premature fusion of the coronal sutures, leading to skull and facial deformities. This condition was initially described as a triad of skull deformities, facial anomalies, and proptosis, which was later re-labeled as “Crouzon syndrome.” Over 150 types of craniosynostosis have been reported in the literature, with Crouzon syndrome being one of the most common autosomal dominant syndromic forms of this condition. The syndrome often results in midface hypoplasia, shallow orbits, proptosis, and vision issues due to orbital dysmorphology. Associated complications include developmental delays, obstructive sleep apnea, and elevated intracranial pressure. Early surgical intervention is crucial to prevent functional impairments and improve quality of life. Diagnosis is typically clinical, supported by genetic testing and imaging. The condition is caused by mutations in the FGFR2 gene, leading to hyperactive signaling that causes early cranial suture fusion. This activity reviews the genetics, epidemiology, pathophysiology, clinical presentation, treatment options, and treatment of patients with Crouzon syndrome. This activity also provides interprofessional healthcare providers with the necessary tools and knowledge needed to improve patient care for this complex and debilitating condition through collaboration in managing Crouzon syndrome.
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MOC types
FDA REMS
Qualifies for MIPS
Target Specialties
Relevant across 9 specialties.
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- Addiction Medicine
- Adolescent Medicine
- Advanced Heart Failure & Transplant Cardiology
- Allergy & Clinical Immunology
- Anatomic & Clinical Pathology
- Blood Banking & Transfusion Medicine
- Brain Injury Rehabilitation
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- Cardiac Anesthesia
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- Cytopathology
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- General Internal Medicine
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