Treacher Collins Syndrome (cont.)

How do people inherit Treacher Collins syndrome?

This condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 60 percent of cases result from new mutations in the TCOF1 gene. These cases occur in people with no history of the disorder in their family. In the remaining cases, a person with Treacher Collins syndrome inherits the altered gene from an affected parent.

Where can I find information about diagnosis or management of Treacher Collins syndrome?

These resources address the diagnosis or management of Treacher Collins syndrome and may include treatment providers.

What other names do people use for Treacher Collins syndrome?

  • Franceschetti-Zwahlen-Klein syndrome
  • Mandibulofacial dysostosis (MFD1)
  • Treacher Collins-Franceschetti syndrome
  • zygoauromandibular dysplasia

REFERENCE:

Genetics Home Reference. "Treacher Collins Syndrome." U.S. National Library of Medicine. Dec. 2006. <http://ghr.nlm.nih.gov/condition/treacher-collins-syndrome>.


Last Editorial Review: 3/28/2012 3:14:07 PM


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