Treacher Collins syndrome
Treacher Collins syndrome is a condition that is passed down through families (hereditary). It leads to problems with the structure of the face.
Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome
Changes to 1 of 3 genes, TCOF1, POLR1C, or POLR1D, can lead to Treacher Collins syndrome. The condition can be passed down through families (inherited). However, most of the time, there is not another affected family member.
This condition may vary in severity from generation to generation and from person to person.
Symptoms may include:
Exams and Tests
The child most often will show normal intelligence. An exam of the infant may reveal a variety of problems, including:
Genetic tests can help identify gene changes linked to this condition.
Hearing loss is treated to ensure better performance in school.
Being followed by a plastic surgeon is very important, because children with this condition may need a series of operations to correct birth defects. Plastic surgery can correct the receding chin and other changes in face structure.
FACES: The National Craniofacial Association: www.faces-cranio.org/Disord/Treacher.htm
Children with this syndrome typically grow to become functioning adults of normal intelligence.
Complications may include:
When to Contact a Medical Professional
This condition is most often seen at birth.
Genetic counseling can help families understand the condition and how to care for the person.
Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.
Katsanis SH, Jabs EW. Treacher Collins syndrome. Gene Reviews. Seattle, WA: University of Washington; 2012:8. PMID: 20301704 www.ncbi.nlm.nih.gov/pubmed/20301704. Accessed August 1, 2015.
Tinanoff N. Syndromes with oral manifestations. In: Kliegman RM, Stanton BF, St Geme JW III, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 311.
Review Date: 8/1/2015
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
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