Treacher Collins Sydrome:

Physical Traits:

Treacher Collins syndrome presents with different severities. That is, sometimes the syndrome is so mild that it is hard to tell if a child even has the syndrome. Other times, it can be quite severe. The following is a list of traits that a child may, or may not have.

  • A narrow forehead.
  • Eyes that tilts downward (called an "antimongoloid" slant).
  • Pulled down lower eyelids (sometimes erroneously called a "coloboma").
  • Absent eyelashes on the lower eyelids.
  • Thin skin overlying absent cheekbones (orbital clefts with absent zygomas).
  • Absent ears (microtia), or malformed ears.
  • Cleft palate.
  • Small lower jaw

Some children may be born without a soft palate (back part of the roof of the mouth) and small, or absent thumbs. These children may have what is called Nager variant.