Treacher Collins Syndrome

Background

TCS is an autosomal dominant disorder of bilateral facial development
Abnormalities can result in airway narrowing & respiratory compromise. Affected patients may require prone positioning or surgery to maintain a patent airway.
Features:
- Malar hypoplasia & a cleft in the zygoma
- Eyes have an antimongloid slant with colobomas (eyelid notch) along the lateral 1/3 of the lower lid
- Lashes are absent from the medial 2/3 of the lower eyelid
- Face has a convex profile with a retrusive chin & jaw. Associated with an overbite
- External ear abnormalities are common

Pediatric patient considerations
Potentially very difficult airway
- Airway is difficult due to high arched palate & mandibular hypoplasia
- Airway becomes more difficult as patient gets older
- Airway plan essential with multiple adjuncts, have ENT/surgical option on stand-by, plan on spontaneously breathing sleep technique (titrated TIVA vs IH)
- LMA & video laryngoscope use have been successfully described in these patients
OSA considerations. OSA is a common comorbidity
Association with congenital heart disease (uncommon)
Deafness common