Chromosomal and Genetic Conditions

Treacher Collins Syndrome

What Is Treacher Collins Syndrome?

Treacher Collins is a rare, inherited, congenital craniofacial condition affecting the bones, jaws, skin and muscles of the face. A syndrome is a disease or disorder that has more than one identifying feature or symptom.

Children with Treacher Collins syndrome have many facial features in common, although there is a wide variation in the severity of the condition.

Because this syndrome involves a number of different areas of the face, the treatment requires the skills and experience of a craniofacial team with a coordinated treatment plan.

The other names for Treacher Collins syndrome are mandibulofacial dysostosis and Franceschetti-Zwalen-Klein syndrome.

Treacher Collins Syndrome in Children

Treacher Collins syndrome occurs in about one of 10,000 live births.

The cause of Treacher Collins syndrome is a genetic mutation that affects the baby's facial development before birth. The affected gene is called TCOF1 and is found on chromosome 5. The mutated gene produces abnormalities in a protein called treacle.

About 60% of children with Treacher Collins syndrome have it because of spontaneous mutation, a new change in the gene, rather than inheriting it from their mother or father.

Treacher Collins syndrome is an autosomal dominant condition, meaning that only one parent needs to have an abnormal gene for the child to inherit the disease.

A person with Treacher Collins syndrome has a 50% chance for each pregnancy of passing the syndrome on to the child. But the severity of the syndrome can vary among members of the same family.

Treacher Collins Syndrome at Seattle Children's

Our craniofacial team has a great deal of experience taking care of children with Treacher Collins syndrome. All members of the team may need to be involved in the care of a child with Treacher Collins syndrome at different times.

Over the past five years, we have treated 19 children for this syndrome. Each year we perform an average of 10 surgeries for Treacher Collins.

Learn about research at Seattle Children's into microtia, which often affects children with Treacher Collins syndrome.