Treacher Collins Syndrome

Category:
Genetic Disorder

Prevalence:
In The US: About 6380 cases.

Also Called:
Franceschetti-Zwahlen-Klein Syndrome, Treacher Collins-Franceschetti Syndrome

Resources:
Mayo Clinic

Genetic Home Reference

Web MD

Faces: The National Craniofacial Association

Additional Info:
Greg Taylor’s Facebook Page

 

Donate

Treacher Collins syndrome 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 Treacher Collins syndrome 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 Treacher Collins syndrome usually have normal intelligence.

Treacher Collins Syndrome In The News

Whimsy and tenderness reign in "Wonder"

Read More    published: 11/28/2017

Girl Born Without a Face Finds 'Sister' Across the World

Read More    published: 07/07/2015

Timecard: Alison Midstokke Rocks Fashion Week, Defines Beauty As ‘Different’

Read More    published: 09/18/2015

Was He Right? Disfigured Dad Keeps Baby Even With Chance of Her Being Born With No Face

Read More    published: 04/28/2015

Treacher Collins Syndrome Comments

Leave a New Comment