Treacher collins syndrome

Treacher Collins Syndrome

Treacher Collins Syndrome (TCS), 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. The condition is named after Edward Treacher Collins, the English surgeon and ophthalmologist who first described its essential features in 1900.

Etiology

Treacher Collins Syndrome is primarily 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 TCS, though these are less common. 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.

Clinical Features

Individuals with Treacher Collins Syndrome typically present with:

• Downward slanting eyes
• Notched lower eyelids (coloboma)
• Underdeveloped cheekbones
• Small jaw and chin (micrognathia)
• Cleft palate
• Hearing loss due to abnormalities in the middle ear

The severity of these features can vary widely among affected individuals, even within the same family.

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.

Management

Management of Treacher Collins Syndrome is multidisciplinary and may involve:

• Craniofacial surgery to correct facial deformities
• Orthodontics and dental care
• Hearing aids or other interventions for hearing loss
• Speech therapy
• Psychological support

Early intervention and a coordinated care approach can significantly improve quality of life for individuals with TCS.

Prognosis

The prognosis for individuals with Treacher Collins Syndrome varies depending on the severity of the condition and the presence of associated complications. With appropriate medical and surgical management, most individuals can lead normal lives.

Also see

• Craniofacial abnormalities
• Genetic disorders
• Cleft palate
• Hearing loss