Treacher Collins syndrome

  • Definition
    • Treacher Collins syndrome is a condition that is passed down through families (hereditary). It leads to problems with the structure of the face.

  • Alternative Names
    • Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome

  • Causes
    • Changes to 1 of 3 genes, TCOF1, POLR1C, or POLR1D, can lead to Treacher Collins syndrome. The condition can be passed down through families (inherited). However, most of the time, there is not another affected family member.

      This condition may vary in severity from generation to generation and from person to person.

  • Symptoms
    • Symptoms may include:

      • Outer part of the ears are abnormal or almost completely missing
      • Hearing loss
      • Very small jaw (micrognathia)
      • Very large mouth
      • Defect in the lower eyelid (coloboma)
      • Scalp hair that reaches to the cheeks
      • Cleft palate
  • Exams and Tests
    • The child most often will show normal intelligence. An exam of the infant may reveal a variety of problems, including:

      • Abnormal eye shape
      • Flat cheekbones
      • Clefts in the face
      • Small jaw
      • Low-set ears
      • Abnormally formed ears
      • Abnormal ear canal
      • Hearing loss
      • Defects in the eye (coloboma that extends into the lower lid)
      • Decreased eyelashes on the lower eyelid

      Genetic tests can help identify gene changes linked to this condition.

  • Treatment
    • Hearing loss is treated to ensure better performance in school.

      Being followed by a plastic surgeon is very important, because children with this condition may need a series of operations to correct birth defects. Plastic surgery can correct the receding chin and other changes in face structure.

  • Support Groups
  • Outlook (Prognosis)
    • Children with this syndrome typically grow to become functioning adults of normal intelligence.

  • Possible Complications
    • Complications may include:

  • When to Contact a Medical Professional
    • This condition is most often seen at birth.

      Genetic counseling can help families understand the condition and how to care for the person.

  • Prevention
    • Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.

  • References
    • Katsanis SH, Jabs EW. Treacher Collins syndrome. Gene Reviews. Seattle, WA: University of Washington; 2012:8. PMID: 20301704 Accessed August 1, 2015.

      Tinanoff N. Syndromes with oral manifestations. In: Kliegman RM, Stanton BF, St Geme JW III, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 311.