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Treacher Collins Syndrome

Treacher Collins syndrome facts*

*Treacher Collins syndrome facts medically edited by: Charles Patrick Davis, MD, PhD

  • Treacher Collins syndrome is a condition that alters the development of bones and other tissues in the face.
  • Signs and symptoms of this syndrome vary from almost unnoticeable to severe facial alterations, including cleft palate and restricted airway
  • Characteristics of Treacher Collins syndrome include:
    • eyes that slant downward,
    • very few eyelashes and a notch in the lower eyelids (colomboma eye), and
    • ears that are absent or unusually formed.
    • Some affected individuals may have hearing loss).
  • Treacher Collins syndrome affects about one in 50,000 people.
  • Mutations in a gene termed TCOF-1 result in a reduced amount of a protein termed treacle; researchers think the loss of this protein results in faulty facial bone development.
  • The condition is inherited through an autosomal dominant gene so that one copy of the altered gene is enough to cause the syndrome; however about 60% of people with Treacher Collins syndrome do not inherit the genes but acquire it from new mutations in the TCOF-1 gene.
  • Information about the diagnosis and management of Treacher Collins syndrome is listed in this article.
  • Other names for Treacher Collins syndrome are:
    • Franceschetti-Zwahien-Klein syndrome
    • Mandibulofacial dysostosis (MFD1)
    • Treacher Collins-Franceschettti syndrome

What is Treacher Collins syndrome?

Treacher Collins syndrome is a condition that affects the development of bones and other tissues in the face.

How common is Treacher Collins syndrome?

Treacher Collins syndrome affects an estimated 1 in 50,000 people.

Medically Reviewed by a Doctor on 12/9/2014

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