Treacher Collins Syndrome

Treacher Collins syndrome is a rare genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. The condition is also known as mandibulofacial dysostosis.

Causes and Inheritance

Treacher Collins syndrome is caused by mutations in the TCOF1, POLR1C, or POLR1D genes. These genes provide instructions for making proteins that are involved in the development of facial bones and other tissues. The condition is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Symptoms

The symptoms of Treacher Collins syndrome can vary in severity and may include:

• Underdeveloped facial bones, particularly the cheekbones and jawbone
• Malformed or absent ears
• Eye problems, such as drooping eyelids or a notch in the lower lid
• A small chin or receding jaw
• Cleft palate or other abnormalities of the mouth and throat
• Hearing loss, which can be conductive, sensorineural, or mixed
• Difficulty breathing or eating due to the abnormal shape of the face and airways

Diagnosis

Treacher Collins syndrome is typically diagnosed at birth or during early childhood. The diagnosis is based on a combination of physical examination, medical history, and genetic testing.

Treatment

Treatment for Treacher Collins syndrome usually involves a team of specialists, including plastic surgeons, orthodontists, audiologists, and speech therapists. The goals of treatment are to:

• Improve the appearance and function of the face and ears
• Correct any breathing or eating difficulties
• Address hearing loss and communication problems
• Support the psychological and social development of the individual

Surgical procedures may be necessary to repair cleft palates, reconstruct the ears, or reshape the facial bones. Other treatments, such as speech therapy and hearing aids, can help individuals with Treacher Collins syndrome communicate more effectively.

Prognosis

The prognosis for individuals with Treacher Collins syndrome varies depending on the severity of the condition and the effectiveness of treatment. With proper care and support, many people with this condition are able to lead active and fulfilling lives.