Crouzon Syndrome

Syndrome: Crouzon Sydrome (Craniofacial Dysostosis)
Etiology: Autosomal dominant inheritance, with complete penetrance and variable expressivity. Missense mutation in FGFR2 gene. Results when premature fusion of cranial sutures occurs. This initiates changes in the brain secondary to increased intracranial pressure. Deformities of cranial bones and orbital cavities also result.
Diagnosis: prenatal testing can diagnose exophthalmos, which can foreshadow this type of developmental problem. However, the phenotypic features of Crouzon syndrome may be absent at birth and evolve gradually during first few years of life.
Systemic/Medical Conditions: Variable cranial deformity, maxillary hypoplasia, shallow orbits with exopthalmos, divergent strabismus, and hypertelorism. Common systemic findings are mental retardation, hearing loss, speech/visual impairment, convulsions.
Oral Manifestations:
Craniofacial: Patients have characteristic facies described as “frog-like” with significant midface hypoplasia and exophthalmos. Relative mandibular prognathism, with “parrot’s beak” nose. Short upper lip and philtrum. Maxillary hypoplasia, narrow maxillary arch, high-arched, compressed palate. Bilateral posterior crossbites common. Anterior open bite common.
Dental needs/considerations: No specific recommendations regarding dental treatment given. Orthodontic treatment with subsequent orthognathic surgery has been successful in managing cases of concomitant dentofacial deformity.