Treacher Collins syndrome (TCS) is a condition that
affects the development of bones and other tissues of
the face. The signs and symptoms of this disorder vary
greatly, ranging from almost unnoticeable to severe.
Most affected individuals have underdeveloped facial
bones, particularly the cheek bones, and a very small
jaw and chin (micrognathia). Some people with this
condition are also born with an opening in the roof of
the mouth called a cleft palate. In severe cases,
underdevelopment of the facial bones may restrict an
affected infant's airway, causing potentially
life-threatening respiratory problems.
People
with TCS often have eyes that
slant downward, sparse eyelashes, and a notch in the
lower eyelids called an eyelid coloboma. Some affected
individuals have additional eye abnormalities that can
lead to vision loss. This condition is also
characterized by absent, small, or unusually formed
ears. Hearing loss occurs in about half of all affected
individuals; hearing loss is caused by defects of the
three small bones in the middle ear, which transmit
sound, or by underdevelopment of the ear canal. People
with TCS usually have normal
intelligence.
[
Read more about TCS
] |

Drawings by Dr. Francis
Smith |