Treacher collins syndrome

Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. The degree, to which a person is affected, however, may vary from mild to severe. Complications may include breathing problems, problems seeing, cleft palate, and hearing loss.

Signs and symptoms

Symptoms in people with Treacher Collins syndrome vary.

  • Underdevelopment of the lower jaw.
  • Underdevelopment of the zygomatic bone (
  • Can be accompanied by the tongue being retracted.
  • External ear is sometimes small, rotated, and malformed.
  • Colobomata (notches) in the lower eyelids.
  • Partial or complete absence of eyelashes on the lower lid.
  • Dental anomalies.

Mutations in TCOF1, POLR1C, or POLR1D genes can cause Treacher Collins syndrome.

 

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