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A newborn has severe micrognathia requiring airway management, downslanting palpebral fissures, and absent external ears (microtia). Hearing aids are fitted for bilateral conductive hearing loss.
TCOF1 (most common, AD), POLR1D (usually AD), POLR1C (AR)
- POLR1C-related TCS is autosomal recessive (biallelic); rare biallelic POLR1D cases are also AR
- Variable expression; ~60% de novo (for the dominant forms)
- Mandibulofacial dysostosis:
- Malar and mandibular hypoplasia
- Downslanting palpebral fissures
- Lower eyelid colobomas
- Microtia, atresia of external auditory canal → conductive hearing loss
- Normal intelligence
- Clinical recognition of bilateral, symmetric mandibulofacial dysostosis (malar/mandibular hypoplasia, downslanting palpebral fissures, lower eyelid colobomas, microtia)
- Craniofacial CT characterizes zygomatic and mandibular hypoplasia and middle/external ear anomalies
- Molecular confirmation by TCOF1, POLR1D, or POLR1C testing (POLR1C is autosomal recessive)
- Multidisciplinary craniofacial team coordination from birth
- Airway management is high-yield: micrognathia and glossoptosis can cause severe obstruction (positioning, nasopharyngeal airway, mandibular distraction, or tracheostomy)
- Audiology and bone-anchored hearing aids for conductive hearing loss; speech therapy
- Staged reconstruction: eyelid coloboma repair, zygomatic and mandibular reconstruction, external ear reconstruction
- Feeding support in infancy
To be a "Treacher" (teacher), you must be smart: patients with Treacher Collins syndrome have normal intelligence (unlike Mandibulofacial Dysostosis Guion-Almeida type, which has intellectual disability).