Apert syndrome (OMIM [Online Mendelian Inheritance in Man] #101200) is a rare craniosynostosis syndrome with an estimated incidence of 1 in every 160,000 live births; it accounts for 4% to 5% of all craniosynostosis syndromes. The syndrome is characterized by irregular craniosynostosis, midface hypoplasia, and syndactyly of the fingers and toes. Although most are sporadic, many are associated with high paternal age. The disorder is associated with a mutation in the FGFR2 gene that maps to chromosome 10q25-10q26 and follows an autosomal dominant inheritance pattern. The recurrence risk for an unaffected parent of a child with Apert syndrome is minor, but an affected person has a 50% risk of having a baby with the syndrome.

The sagittal and metopic sutures are incompletely formed, often with a broad defect in the midline from glabella to the posterior fontanel that might gradually fill in over time. The premature suture closures can result in acrobrachycephaly or turribrachycephaly, large, late-closing fontanels, and macrocephaly. Premature fusion might restrict brain growth and central nervous system development. Those with Apert syndrome have been reported to have a mean IQ of 74 and significant mental deficiencies not readily explained by suture closures. Other central nervous system characteristics include agenesis of the corpus callosum, ventriculomegaly, and hydrocephalus. Spinal fusions are frequently found in C3-4 and C5-6. If there is synostosis of the radius and humerus, limb mobility might be limited.

The maxilla is retruded and hypoplastic. and the palate is high arched and narrow with bulbous palatal swellings, mostly consisting of mucopolysaccharides. This excessive soft-tissue buildup can give the appearance of a pseudocleft. A 30% incidence of soft-palate clefting has been reported. Other findings include shallow orbits, hypertelorism, down-slanting palpebral fissures, strabismus, proptosis, depressed nasal bridge, and deviated nasal septum. Chronic otitis media, hearing loss, and abnormal semicircular canals are common findings. Increased ocular pressure can result in blindness.

Both the primary and permanent dentitions are characterized by impaction, severe crowding, delayed eruption, thick gingival swellings, and congenitally missing teeth. The development of the primary dentition is delayed by a year (mean, 0.96 years), with increased delays in dental development and eruption during preadolescent and adolescent growth. Ectopic eruption of the maxillary permanent first molars, which occurs in about half of individuals, causes premature loss of the deciduous second molars and mesial drifting of the molars. Often, a second premolar will erupt palatally, contributing to further impaction and crowding. Unilateral and bilateral posterior crossbites are prevalent in two thirds of affected persons. These individuals experience high caries risks due to lack of motivation and mobility restrictions from fused shoulder and elbow joints, and hand anomalies, making it difficult to maintain adequate oral hygiene.

The purpose of this study was to evaluate the final treatment outcomes of the team care provided for individuals with Apert syndrome.