Treacher Collins-Franceschetti syndrome

=Treacher Collins-Franceschetti Syndrome = Treacher Collins-Franceschetti syndrome, also known as mandibulofacial dysostosis, is a rare genetic disorder characterized by craniofacial deformities. It affects the development of bones and other tissues of the face.

History

The syndrome is named after Edward Treacher Collins, an English surgeon and ophthalmologist, who first described the essential features of the condition in 1900. Later, Adolphe Franceschetti and David Klein expanded on his work in 1949, leading to the full name of the syndrome.

Genetics

Treacher Collins syndrome is most commonly caused by mutations in the TCOF1 gene, which provides instructions for making a protein called treacle. This protein is involved in the development of facial bones and tissues. Mutations in the POLR1C and POLR1D genes can also cause the syndrome. The condition is inherited in an autosomal dominant pattern, meaning one copy of the altered gene in each cell is sufficient to cause the disorder.

Symptoms

Individuals with Treacher Collins syndrome may exhibit a variety of symptoms, including:

• Underdeveloped facial bones, particularly the cheekbones
• Very small jaw and chin (micrognathia)
• Cleft palate
• Downward slanting eyes
• Sparse eyelashes
• Notched lower eyelids (coloboma)
• Hearing loss due to abnormalities in the middle ear

Diagnosis

Diagnosis of Treacher Collins syndrome is based on clinical evaluation, detailed patient history, and identification of characteristic physical findings. Genetic testing can confirm the diagnosis by identifying mutations in the TCOF1, POLR1C, or POLR1D genes.

Treatment

There is no cure for Treacher Collins syndrome, but treatment focuses on managing symptoms and improving quality of life. This may include:

• Surgical interventions to correct facial deformities
• Hearing aids or other assistive devices for hearing loss
• Speech therapy
• Dental care to address dental anomalies

Prognosis

The prognosis for individuals with Treacher Collins syndrome varies depending on the severity of the condition. With appropriate medical care and interventions, most individuals can lead normal lives.

Research

Ongoing research aims to better understand the genetic basis of Treacher Collins syndrome and to develop improved treatments. Studies are also exploring the role of the treacle protein in craniofacial development.

See Also

• Craniofacial abnormalities
• Genetic disorders
• Hearing impairment
• Jones, K. L. (2013). Smith's Recognizable Patterns of Human Malformation. Elsevier Health Sciences.
• Dixon, J., & Dixon, M. J. (2004). "Treacher Collins syndrome." Journal of Medical Genetics, 41(8), 545-551.

External Links

• [Genetics Home Reference: Treacher Collins syndrome](https://ghr.nlm.nih.gov/condition/treacher-collins-syndrome)
• [National Organization for Rare Disorders (NORD): Treacher Collins Syndrome](https://rarediseases.org/rare-diseases/treacher-collins-syndrome/)

NIH genetic and rare disease info

• NIH info on Treacher Collins-Franceschetti syndrome

Treacher Collins-Franceschetti syndrome is a rare disease.