Crouzon Syndrome

Significant craniofacial and/or oral features:
Craniosynostosis
Hydrocephalus
Maxillary hypoplasia/mandibular prognathism
Exophthalamos secondary to shallow orbits
Ocular hypertelorism and divergent strabismus
Beaked nose appearance
Narrow ear canals resulting in hearing loss
Normal intelligence
Narrow/absent ear canals

Etiology:
Autosomal dominant genetic disorder due to mutation in FGFR2 gene. This gene provides instructions for making FGFR2 protein. Normally the FGFR2 protein is involved in signaling immature cells to become bone cells during embryonic development. When this gene is overstimulated the bones of the skull fuse prematurely.

Incidence:
1 case per 60,000


Age of Diagnosis:
At birth, diagnosis is made because of dysmorphic features

Factors that influence dental care or require dental intervention:
Overcrowding of upper teeth
Malocclusions
V-shaped maxillary dental arch
Narrow, high, or cleft palate and bifid uvula
Possibly oligodontia, macrodontia, peg-shaped and widely-spaced teeth


Associated systemic conditions:
5% of patients have acanthosis nigricans (darkened thickened skin with accentuated markings and velvety feel)
73% of patients have chronic tonsillar herniation

Factoids:
It is the most common craniosynostosis syndrome