Treacher Collins Syndrome

Treacher Collins syndrome facts*

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*Treacher Collins syndrome facts medically edited by:

  • 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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Hearing Loss Symptoms

Hearing loss can be present at birth (congenital) or become evident later in life (acquired deafness). The distinction between acquired and congenital deafness specifies only the time that the deafness appears. It does not specify whether the cause of the deafness is genetic (inherited).

Acquired deafness may or may not be genetic. For example, it may be a manifestation of a delayed-onset form of genetic deafness. Alternatively, acquired deafness may be due to damage to the ear from noise.