Treacher Collins syndrome is highly complex disease process consisting of the following:

• Hypoplastic cheeks, zygomatic arches, and mandible

• Microtia with possible hearing loss

• High-arched or cleft palate

• Macrostomia (abnormally large mouth)

• Antimongoloid slant to the eyes

• Coloboma (notching of the outer portion of the lower eyelid)

• Increased anterior facial height

• Malocclusion (anterior open bite)

• Small oral cavity and airway with normal-sized tongue

• Pointed nasal prominence

Mutations in the TCOF1 gene account for the majority of cases and have autosomal dominant inheritance. Critical airway issues after birth (occurring in up to 20% of patients with the syndrome), feeding difficulties, obstructive sleep apnea, and hearing and vision loss should all be addressed.

References

• Jones KL, Jones MC, del Campo M. Facial Defects as Major Feature. Treacher Collins Syndrome. Smith's Recognizable Patterns of Human Malformation. 8th ed. WB-Saunders; 2021: 362-363.