Treacher collins syndrome
Einstein Health Glossary
ICD 10 - Q75.4
What is Treacher Collins Syndrome
Treacher Collins syndrome, also known as mandibulofacial dysostosis, is a hereditary disease generally caused by changes in genes involved in the development of facial structures. This prevents the proper formation of bones and tissues in the region.
Symptoms
People with Treacher Collins syndrome often have downward-slanting eyes and very small jaw and chin, as well as hearing and vision loss. Some babies are also born with a cleft palate, a malformation in the roof of the mouth.
Causes
In most cases, Treacher Collins syndrome is caused by a change in genes involved in the development of facial structures and phenotypic alterations.
Diagnosis
The diagnosis of Treacher Collins syndrome is made through an evaluation of symptoms and genetic testing.
Prevention
There is no way to prevent Treacher Collins syndrome.
Treatment
Treacher Collins syndrome has no cure. Treatment focuses on correcting facial structure and may involve plastic surgery and orthodontic care.
Duration
Treacher Collins syndrome has no cure, although some of its consequences can be corrected.
Is it contagious?
Treacher Collins syndrome is not contagious.
Can it be contracted more than once?
Treacher Collins syndrome has no cure, therefore it is only diagnosed once in a lifetime.