Treacher Collins syndrome

external

• Effects

  • Downward slanting palpebral fissures
  • Coloboma
  • Maxillary hyoplasia
  • Absent zygomatic bone
  • Micrognathia
  • Low-set ears
  • Absent ears
  • Cleft palate
  • Conductive deafness

• Parents

  • Autosomal dominant disorder
  • Craniofacial syndromes

• Description

  • "Mutations in the TCOF1 gene. "