Treacher Collins Syndrome

Definition

Treacher Collins syndrome is a congenital syndrome characterized by hypoplasia of the facial bones.

Symptoms

  • Malar hypoplasia
  • Lower eyelid coloboma
  • Microtia
  • Hearing loss

Reasons

TCOF1 gene mutation.

Diagnosis

Clinical findings, genetic testing.

Treatment

Surgical reconstruction.

Which Polyclinic Should You Apply To?

Genetics Polyclinic

What to Do in an Emergency?

In case of respiratory distress, emergency services should be consulted.

This page is for general information purposes only.