Genetics of Treacher Collins: A Response to 20/20

By ACPA posted 12-06-2017 09:22 AM

  

The American Cleft Palate-Craniofacial Association (ACPA) is a nonprofit association of interested individuals and health care professionals who treat and/or perform research on oral cleft and craniofacial conditions. One such condition, Treacher Collins syndrome, was the subject of a recent 20/20 program on the ABC network – as well as the current motion picture, Wonder.

The information shared in the 20/20 program was largely accurate and beneficial to public understanding about the experiences of patients with Treacher Collins and their families. However, a statement that parents of children born with the syndrome have a 50% chance that subsequent pregnancies will have the same result was inaccurate and should be corrected.

Humans have approximately 20,000 pairs of genes, three of which are known to be associated with Treacher Collins syndrome. Mutations in one or both of these specific gene pairs are known to cause Treacher Collins syndrome. The syndrome occurs in one out of every 50,000 births.

Parents who do not show signs of Treacher Collins but have a child with the syndrome -- like the ones in the 20/20 program -- have a very low recurrence risk with future pregnancies, at less than 3%., except for one of the three types of Treacher Collins syndrome for which each parent is an unaffected carrier of a gene mutation and have a 25% chance for having a child with Treacher Collins syndrome with each pregnancy. Therefore, parents who are found to have mutations in their genes associated with Treacher Collins have a 25%-50% chance that each pregnancy will result in a child with the syndrome.   

Thus, the recurrence of Treacher Collins syndrome in subsequent pregnancies for parents who are unaffected happens only under a highly limited set of circumstances and does not apply in a large majority of cases of the syndrome.

For more information, Contact Us.

 


#ACPA

Permalink

Comments

01-09-2018 03:59 PM

Thank you so much for officially contacting 20/20. I contacted them, but received no response. 

Anne Bedwinek, PhD, CCC-SLP
Adjunct Associate Professor
University of Missouri