What Is Treacher Collins Syndrome?
Treacher Collins Syndrome affects facial bone development. Here is what families should know.
Treacher Collins Syndrome (TCS), also called mandibulofacial dysostosis, is a genetic condition that affects the development of facial bones and tissues.
- Key features:
- Underdeveloped cheekbones (zygomatic bones)
- Small lower jaw (micrognathia)
- Downward-slanting eyes
- Notched or absent lower eyelids (coloboma)
- Small or absent ears (microtia/anotia)
- Hearing loss (conductive)
- Cleft palate (in some cases)
- Usually normal intelligence
- How it is inherited:
- About 60% of cases are new genetic mutations (no family history)
- About 40% are inherited in an autosomal dominant pattern
- Only one affected gene copy is needed
- The TCOF1 gene is most commonly involved
- Treatment:
- Hearing: Bone-anchored hearing aids (BAHA) or conventional hearing aids
- Airway: May need breathing support (tracheostomy) in severe cases
- Feeding: Specialty bottles, possibly feeding tube for severe cases
- Surgery: Multiple surgeries over childhood and adolescence including: - Ear reconstruction (microtia repair) - Jaw surgery (mandibular distraction or orthognathic surgery) - Eyelid reconstruction - Cheek augmentation - Cleft palate repair (if needed) - Orthognathic surgery
Long-Term Outlook
Most children with Treacher Collins Syndrome have normal intelligence and lead full, productive lives. They require multidisciplinary care and multiple surgeries throughout childhood.
Clinical Guidance
Treacher Collins Syndrome affects facial bone development, causing underdeveloped cheeks, small jaw, ear anomalies, and hearing loss. With multidisciplinary care including surgeries and hearing aids, children with TCS have excellent long-term outcomes.