2025 May 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
ABSTRACT
Crouzon syndrome is a genetically inherited disorder characterized by multiple suture craniosynostosis (premature fusion of the coronal sutures), leading to skull and facial deformities. This condition was first described in 1912 by French physician Octave Crouzon, who identified both a mother and daughter with what was originally termed “craniofacial dysostosis.” He described a triad of skull deformities, facial anomalies, and proptosis, which was later relabeled as “Crouzon syndrome” (see Image. Crouzon Syndrome in a Patient Exhibiting Craniofacial Deformities).
Crouzon syndrome is a congenital disorder inherited in an autosomal dominant pattern. This syndromic condition exhibits complete penetrance but variable expressivity, meaning symptom severity varies among individuals. Craniosynostosis is the distinguishing feature of Crouzon syndrome, which typically affects the coronal sutures, although other sutures may also be involved. Premature suture closure disrupts the balance between intracranial pressure and cranial vault development, leading to compensatory growth of unaffected sutures. This results in a brachycephalic cranium shape, midface hypoplasia, shallow orbits, and maxillary hypoplasia.
The underdevelopment of the maxilla and zygomatic arches causes midface hypoplasia, a defining characteristic of Crouzon syndrome. This anomaly leads to aesthetic concerns and contributes to functional impairments, such as malocclusion and upper airway obstruction. Proptosis, hypertelorism, and vision impairment result from orbital dysmorphology, which leads to exposure keratopathy and optic atrophy.
Progressive craniofacial dysmorphism and complications, including developmental delays, obstructive sleep apnea, and elevated intracranial pressure, are characteristic of untreated Crouzon syndrome. Early surgical interventions are essential to manage the condition, enhance quality of life, and prevent complications. A multidisciplinary approach involving physicians, geneticists, ophthalmologists, neurosurgeons, and plastic craniofacial surgeons is crucial to addressing the diverse clinical manifestations. The diagnosis of Crouzon syndrome is predominantly clinical, with genetic testing and radiological imaging providing additional support.