Children's Hospital Colorado

Treacher Collins Syndrome

What is Treacher Collins syndrome?

Treacher Collins syndrome, also known as mandibulofacial dysostosis or Franceschetti-Zwahlen-Klein syndrome, is a condition characterized by abnormalities of the bones and soft tissues of the head. There is great phenotypic variability in Treacher Collins syndrome, which may affect the eyes, ears, nose, cheeks and jaws.

The facial differences in children with Treacher Collins syndrome typically are bilateral, symmetric and affect the first and second branchial arch structures. Patients with this diagnosis may also have hearing loss or cleft palate. Individuals with the above abnormalities and bilateral absence of the thumbs have Nager syndrome, a diagnosis similar to Treacher Collins.

Who gets Treacher Collins syndrome?

Treacher Collins syndrome is a rare congenital condition that occurs in 1 of 10,000 newborn babies in a 1:1 male to female ratio. It may be inherited in an autosomal dominant fashion from a parent with Treacher Collins syndrome, or be due to a fresh genetic mutation. The affected gene is TCOF1 on chromosome 5. A parent with Treacher Collins syndrome has a 50% chance of passing the condition to a child.

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Richele Koehler, PA-C

Richele Koehler, PA-C

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Melodie Biblis, FNP

Melodie Biblis, FNP

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Chinonye Ihekweazu, MSN

Chinonye Ihekweazu, MSN

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