Treacher Collins Syndrome: Symptoms & Signs

Treacher Collins syndrome is a genetic condition characterized by problems with development of the bones and muscles of the face. A change, or mutation, in a gene known as TCOF1 causes Treacher Collins syndrome.

Signs and symptoms of Treacher Collins syndrome include

  • small and abnormally formed ears,
  • underdeveloped facial bones,
  • cleft palate,
  • a very small jaw and chin (micrognathia),
  • eyes that slant downward,
  • sparse eyelashes,
  • hearing loss, or a
  • notch in the lower eyelids called a coloboma.

Symptoms and signs vary widely among affected individuals.

Causes of Treacher Collins syndrome

People inherit it in an autosomal dominant manner, meaning that a person who has one copy of the defective gene (from either parent) will have the condition. However, about 60% of cases occur as a result of new, non-inherited mutations in people without a family history of the condition.

Other treacher collins syndrome symptoms and signs

  • Cleft Palate
  • Eyes That Slant Downward
  • Hearing Loss
  • Notch in the Lower Eyelids Called a Coloboma
  • Small and Abnormally Formed Ears
  • Sparse Eyelashes
  • Underdeveloped Facial Bones
  • Very Small Jaw and Chin (Micrognathia)

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Medically Reviewed on 9/8/2020
Jameson, J. Larry, et al. Harrison's Principles of Internal Medicine, 20th Ed. New York: McGraw-Hill Education, 2018.