Treacher

Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by craniofacial deformities. It is also known as Mandibulofacial Dysostosis and Franceschetti-Zwahlen-Klein syndrome. The syndrome is named after Edward Treacher Collins, the British ophthalmologist who first described its symptoms in 1900.

Symptoms

The symptoms of Treacher Collins syndrome can vary greatly from person to person. Some individuals may have very mild symptoms, while others may have severe deformities. Common symptoms include:

• Micrognathia (small lower jaw)
• Microtia (small or absent ears)
• Coloboma (notches in the lower eyelids)
• Downslanting palpebral fissures (downward slanting of the opening between the upper and lower eyelids)
• Conductive hearing loss due to malformations of the outer and middle ear

Causes

Treacher Collins syndrome is caused by mutations in the TCOF1, POLR1C, or POLR1D genes. These genes are involved in the development of bones and other tissues in the face. Mutations in these genes disrupt this development, leading to the characteristic features of Treacher Collins syndrome.

Diagnosis

Diagnosis of Treacher Collins syndrome is usually based on a clinical examination of the physical features. Genetic testing can confirm the diagnosis.

Treatment

There is no cure for Treacher Collins syndrome. Treatment is symptomatic and supportive, and may include surgery to correct facial abnormalities, hearing aids to address hearing loss, and speech therapy to improve speech and language skills.

Epidemiology

Treacher Collins syndrome is estimated to affect 1 in 50,000 people. It affects males and females equally.

See also

• List of genetic disorders
• Craniofacial surgery

NIH genetic and rare disease info

• NIH info on Treacher

Treacher is a rare disease.

Treacher Resources
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