Treacher Collins syndrome

Treacher collin syndrome


  • It is a rare autosomal dominant congenital disorder characterized by craniofacial deformities
  • Associated with TCOF-1 gene (treacle gene) chromosome 5 mutation
  • Due to stapedial artery defects, growth of craniofacial structures derived from the first and second pharyngeal arch, groove, and pouch are diminished symmetrically and bilaterally


1. Facial features:

  • Downward slopping of palpebral features
  • Underdeveloped zygomatic-maxillary complex
  • Colobomas of lower eyelid (missing piece of tissue)
  • Middle ear atresia
  • Lower set ears with deformed pinna
  • Orofacial clefts

2. Oral features:

  • Macrostomia
  • Cleft palate
  • High arched palate
  • Open bite (apertognathia)
  • Mandible hypoplasia

Prenatal diagnosis:

  • Mutations can be detected in chorionic villus sampling or amniocentasis
  • Ultrasonography to detect craniofacial abnormalities later in pregnancy


  • Decreased slopping of orbital floor
  • Aplasia/ hypoplasia of zygoma
  • Obtuse mandible angle
  • Lateral cephalogram:
    • Broad curve of mandible
    • Flat condylar and coronoid process


  • Hearing aids
  • Surgery – Ophthalmological, maxillofacial, orthodontic


  • Treacher Collins syndrome patients grow to become functioning adults with normal intelligence. With proper management, life expectancy is approximately the same as in the general population

Differential diagnosis: