Also known as: Treacher Collins syndrome
What is Treacher Collins?
Treacher Collins described two patients with features of this condition in 1900. Additional description of the condition was made by Franceschetti and Klein. They called the condition Mandibulofacial Dysostosis (abnormal bone formation of the face).
The primary clinical signs of Treacher syndrome are:
- Down-slanting eyes
- Coloboma (defect) of the lower eyelid
- Some missing eyelashes on the lower eyelid
- Underdevelopment of the bones in the upper and lower jaw and bone under the eyes (zygoma)
- Ear anomalies (external and internal)
- Normal intelligence
What causes Treacher Collins syndrome?
Most cases of this condition are caused by a change (“mutation”) in a gene called the TCOF1 gene on chromosome 5. Treacher Collins syndrome is inherited in an autosomal dominant pattern of inheritance therefore if a person has Treacher Collins syndrome, his/her offspring would have a 50% for also having Treacher Collins syndrome.
Most individuals with Treacher Collins syndrome are the first cases in the family. This means that the parents of the affected child do not have the condition. If a child’s parents do not have Treacher Collins syndrome, the risk to their other pregnancies is low.
Genetic testing is available therefore to accurately determine the risk for siblings to be affected, clinical genetics evaluation and counseling are recommended for all families.
What is the prognosis?
With close medical attention, the prognosis for most children with this condition is positive. Multiple surgeries and ongoing therapies are often required for these children but most will ultimately attend school, have friends, and most of all enjoy life. With close follow-up by a craniofacial team, these children can grow to healthy and happy adults.