What is Treacher Collins syndrome?
Treacher Collins syndrome is a condition that affects the development of bones and other tissues in the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems.
Treacher Collins syndrome is a condition that affects the development of bones and other tissues in the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems.
People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called a coloboma. Some affected individuals have additional eye abnormalities that can lead to vision loss. This condition is also characterized by absent, small, or unusually formed ears. Defects in the middle ear (which contains three small bones that transmit sound) cause hearing loss in about half of cases. People with Treacher Collins syndrome usually have normal intelligence.
What genes are related to Treacher Collins syndrome?
Mutations in the TCOF1 gene cause Treacher Collins syndrome.
The TCOF1 gene provides instructions for making a protein called treacle. Although researchers have not determined the precise function of this protein, they believe that it plays a critical role before birth in the development of bones and other tissues in the face. Mutations in the TCOF1 gene reduce the amount of treacle that is produced in cells. Researchers believe that a loss of this protein signals cells that are important for the development of facial bones to self-destruct (undergo apoptosis). This abnormal cell death may lead to the specific problems with facial development found in Treacher Collins syndrome.
Read more about the TCOF1 gene.
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 treatment for Treacher Collins syndrome?
These resources address the management of Treacher Collins syndrome and may include treatment providers.
Gene Review: Treacher Collins Syndrome
MedlinePlus Encyclopedia: Micrognathia
MedlinePlus Encyclopedia: Pinna Abnormalities and Low-Set Ears
MedlinePlus Encyclopedia: Treacher-Collins Syndrome
You might also find information on treatment of Treacher Collins syndrome in Educational resources and Patient support.
Where can I find additional information about Treacher Collins syndrome?
You may find the following resources about Treacher Collins syndrome helpful. These materials are written for the general public.
MedlinePlus - Health information (5 links)
Educational resources - Information pages (7 links)
Patient support - For patients and families (10 links)
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
Gene Reviews - Clinical summary
Gene Tests - DNA tests ordered by healthcare professionals
ClinicalTrials.gov - Linking patients to medical research
PubMed - Recent literature
Online Books - Medical and science texts
Scriver's Online Metabolic and Molecular Bases of Inherited Disease (OMMBID): Treacher Collins Syndrome
OMIM - Genetic disorder catalog
What other names do people use for Treacher Collins syndrome?
Franceschetti-Zwahlen-Klein syndrome
Mandibulofacial dysostosis (MFD1)
Treacher Collins-Franceschetti syndrome
zygoauromandibular dysplasia
Franceschetti-Zwahlen-Klein syndrome
Mandibulofacial dysostosis (MFD1)
Treacher Collins-Franceschetti syndrome
zygoauromandibular dysplasia
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional.
Reviewed: December 2006
Published: August 14, 2009
Published: August 14, 2009
Source: Genetics Home Reference
