Treacher Collins syndrome

Overview

Board takeaway: Assess current airway obstruction and anesthetic history before sedation; accommodate hearing loss and coordinate staged craniofacial treatment.

Micrognathia can cause airway obstruction; hearing differences require communication accommodations.

How does Treacher Collins syndrome affect dental management?

• Assess airway: current obstruction/OSA, mouth opening, previous airway surgery, and anesthetic history.
• Choose the setting: an anticipated difficult airway needs pediatric anesthesia planning and advanced rescue and recovery resources, often in a hospital. Do not choose office deep sedation before that assessment.
• Communication: Adapt communication to hearing loss (hearing aids in, face the patient); hearing loss is not intellectual disability
• Craniofacial coordination: Stage orthodontics around mandibular distraction and orthognathic surgery with the craniofacial team

Exam pearl

What is Treacher Collins syndrome?

A genetic craniofacial disorder with underdevelopment of facial bones, especially the cheekbones and mandible, and variable ear and palatal abnormalities.

What are the main systemic features of Treacher Collins syndrome?

• Genetics: Mandibulofacial dysostosis; TCOF1 (most common, autosomal dominant, ~60% de novo), POLR1C or POLR1D
• Craniofacial findings: Bilateral symmetric zygomatic and mandibular hypoplasia, down-slanting palpebral fissures, lower eyelid coloboma, absent lower lashes
• Hearing: Microtia and external ear malformation with conductive hearing loss
• Development: intelligence is typically normal.
• Airway: obstruction can worsen as the child grows.

What oral findings occur in Treacher Collins syndrome?

• Mandibular hypoplasia with retrognathia, steep mandibular plane and antegonial notching: Class II, anterior open bite
• Cleft palate in about a third; high-arched palate; macrostomia
• Enamel hypoplasia, ectopic maxillary first molars, hypodontia

For Treacher Collins syndrome, how do you communicate with the child?

• Do not equate hearing loss with intellectual disability.
• Keep hearing aids in: face the child and speak clearly.
• Use visual aids.

Sources

• AAPD dental guidance: AAPD: Monitoring and management of pediatric sedation
• Supplemental systemic features: MedlinePlus Genetics: treacher collins syndrome
• Supplemental study guide: Pediatric Dental Study Guide: Treacher-Collins 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