Medical Genetics, Oral & Maxillofacial Surgery, Pediatric Hearing Disorders
Treacher-Collins syndrome
Treacher-Collins syndrome
Definition:
Treacher-Collins syndrome is a hereditary condition that causes facial defects.
Alternative Names:
Mandibulofacial dysostosis
Causes, incidence, and risk factors:
Treacher-Collins syndrome is caused by a defective protein called treacle. The condition is inherited as an autosomal dominant trait. More than half of all cases are thought to be due to new mutations because there is no family history of the disease.
This condition may greatly vary in severity from generation to generation.
Symptoms:
External ears that are abnormal to almost completely missing
Defects in the eye (coloboma that extends into the lower lid)
Decreased eyelashes on the lower eyelid
Genetic tests can be done to look for mutations on the TCS1 gene.
Review Date: 7/2/2007
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of HumanGenetics, New York, NY. Review provided by VeriMed Healthcare Network.
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Medical Genetics, Oral & Maxillofacial Surgery, Pediatric Hearing Disorders
