Apert syndrome

Overview

Board takeaway: Assess airway risk before sedation, adapt brushing to hand function, and coordinate orthodontics with craniofacial surgery.

Apert combines craniosynostosis with syndactyly; maxillary hypoplasia affects breathing, occlusion, and oral hygiene.

How does Apert syndrome affect dental management?

• Airway: Assess sleep-disordered breathing and prior airway surgery before sedation or anesthesia
• Craniofacial plan: Coordinate orthodontics, midface advancement (Le Fort III or distraction) and jaw surgery with the craniofacial team
• Home care: Adapt brushing aids (built-up or electric brushes) to hand function, or train a caregiver
• Intensive prevention: fluoride varnish, sealants, frequent recall

Exam pearl

What is Apert syndrome?

A genetic craniosynostosis syndrome with early fusion of skull sutures, midface underdevelopment, and fusion of fingers and toes.

What are the main systemic features of Apert syndrome?

• Genetics: Acrocephalosyndactyly type I; FGFR2 gain-of-function, autosomal dominant, mostly de novo (paternal age)
• Craniofacial: Bicoronal craniosynostosis (turribrachycephaly), midface hypoplasia, proptosis, hypertelorism, down-slanting palpebral fissures
• Distinguishing feature: Symmetric complex syndactyly of hands and feet ("mitten hands"): the feature that separates it from Crouzon
• Development and hearing: variable intellectual disability; hearing loss
• Airway: obstruction and OSA
• Other anomalies: cardiac and GU anomalies in some

What oral findings occur in Apert syndrome?

• Severe maxillary hypoplasia: Class III, anterior open bite, posterior crossbite and crowding
• V-shaped maxillary arch with lateral palatal swellings (pseudocleft) that thicken with age; cleft soft palate in about a third
• Delayed and ectopic eruption, impacted and missing teeth, shovel incisors, thick gingiva
• Crowding and limited hand function may make hygiene difficult; assess caregiver support, current disease, diet, and fluoride exposure

For Apert syndrome, how do you distinguish it from Crouzon syndrome?

• Both: FGFR2 craniosynostosis, midface hypoplasia, proptosis
• Apert: symmetric complex syndactyly of hands and feet (fused fingers); intellectual disability more often
• Crouzon: normal hands

For Apert syndrome, what is your concern before sedation?

• Airway risks: midface hypoplasia, obstructive sleep apnea (OSA), possible tracheal anomalies, and prior airway surgery.
• History: review sleep and previous anesthesia assessments.
• Setting: significant OSA, difficult airway anatomy, or complex extensive care favors a hospital with pediatric anesthesia expertise. Make the decision from the child’s current findings and available rescue resources.

Sources

• Supplemental study guide: Pediatric Dental Study Guide: Apert Syndrome
• Policy on the Management of Patients with Cleft Lip/Palate and Other Craniofacial Anomalies
• Management of Dental Patients with Special Health Care Needs
• Management of the Developing Dentition and Occlusion in Pediatric Dentistry
• Pediatric Airway Assessment
• Supplemental genetics: MedlinePlus Genetics: apert syndrome