Treacher Collins Syndrome
Treacher Collins syndrome (TCS) is an autosomal dominant disorder with variable penetrance. The only gene mutations known to be associated with TCS are located in the TCOF 1 gene.
Treacher Collins syndrome is reported in the range of 1:25,000 to 1:50,000 births.
Treacher Collins syndrome is characterized by:
- Hypoplastic or absent zygoma
- Facial convexity
- Mandibular hypoplasia
- Hypoplastic or absent condyle
- Retrusive chin with increased vertical height
- Antimongoloid slant of the palpebral fissures
- Hypoplastic lower eyelid with coloboma
- Broadened mid-nasal dorsum
- Ears can be normal, deformed or absent
- Bilateral stenosis or atresia of the external auditory canal
- Clefts of the palate and lateral lip
Given the wide range of possible deformities in this disorder, multiple specialists must be involved in their care. A comprehensive description of the evaluation and management of these patients is beyond the scope of this surgery reference.
