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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