Treacher collins syndrome

Treacher Collins Syndrome

Treacher Collins Syndrome (pronunciation: tre-ch-er kol-lins sin-drome), also known as Mandibulofacial Dysostosis (pronunciation: man-di-bu-lo-fa-cial dis-tow-sis), is a rare genetic disorder characterized by craniofacial deformities. The syndrome is named after Edward Treacher Collins, the British ophthalmologist who first described its symptoms in 1900.

Etymology

The term "Treacher Collins Syndrome" is derived from the name of the British ophthalmologist Edward Treacher Collins. The term "Mandibulofacial Dysostosis" is derived from the Latin words "mandibula" meaning jaw, "facies" meaning face, and "dysostosis" meaning abnormal bone formation.

Symptoms

The symptoms of Treacher Collins Syndrome can vary greatly among individuals. Common symptoms include micrognathia (small lower jaw), microtia (small or absent ears), coloboma (notches in the lower eyelids), and conductive hearing loss due to malformations of the 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.

Diagnosis

Diagnosis of Treacher Collins Syndrome is typically based on a clinical evaluation, detailed patient history, and a variety of specialized tests. Genetic testing can confirm a diagnosis.

Treatment

Treatment for Treacher Collins Syndrome is symptomatic and supportive. It may include surgery to correct craniofacial abnormalities, speech therapy, and hearing aids or cochlear implants to address hearing loss.

Related Terms

• Craniofacial
• Genetic disorder
• Mutation
• Micrognathia
• Microtia
• Coloboma
• Conductive hearing loss
• TCOF1
• POLR1C
• POLR1D
• Speech therapy
• Hearing aid
• Cochlear implant

External links

• Medical encyclopedia article on Treacher collins syndrome
• Wikipedia's article - Treacher collins syndrome

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