treacher collins syndrome
Pronunciation: TREE-cher KOL-ins SIN-drome
A genetic disorder affecting facial bone and tissue development, characterized by downslanting eyes, micrognathia, and ear malformations.
Full Definition
Treacher Collins syndrome is an autosomal dominant disorder caused by mutations in genes affecting neural crest cell migration during embryonic development. The condition presents with bilateral and symmetrical facial features including downslanting palpebral fissures, colobomas of the lower eyelids, hypoplastic zygomatic arches, and microtia or anotia. Patients often require multiple reconstructive surgeries including mandibular distraction, orbital reconstruction, and ear reconstruction throughout childhood and adolescence.
Usage
Usage note: Capitalize both 'Treacher' and 'Collins' as they are eponyms.
In Context
- "The Treacher Collins syndrome patient underwent bilateral mandibular distraction to address severe micrognathia." — Operative report
- "Treacher Collins syndrome requires careful airway management due to associated micrognathia and glossoptosis." — Anesthesia consultation