What are the symptoms of Treacher Collins syndrome?

Treacher Collins syndrome is a genetic disorder that affects the development of the bones and tissues of the face. Symptoms of Treacher Collins syndrome can vary widely in severity, but may include:

1. Underdeveloped or absent cheekbones: This can give the cheeks a flat appearance.
2. Underdeveloped jaw: The lower jaw may be small or recessed, leading to a receding chin.
3. Downward slanting eyes: The lower eyelids may be droopy, and the eyes may appear to slant downward.
4. Malformed or absent ears: The outer ears may be small, abnormally shaped, or missing altogether.
5. Cleft palate: A split in the roof of the mouth that may extend into the lip.
6. Dental problems: Including missing teeth, crowding, or misalignment of teeth.
7. Hearing loss: Due to problems with the development of the ears and ear canals.
8. Vision problems: Such as nearsightedness or other refractive errors.
9. Breathing difficulties: Due to the underdeveloped jaw and airway.
10. Speech problems: Due to the cleft palate or other structural abnormalities in the mouth and throat.

It’s important to note that the severity and combination of symptoms can vary greatly among individuals with Treacher Collins syndrome. Additionally, some individuals may have normal intelligence and development, while others may have intellectual disabilities. If you or someone you know is suspected of having Treacher Collins syndrome, it’s important to consult with a healthcare provider for proper diagnosis and management.

What are the causes of Treacher Collins syndrome?

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 structures in the face, particularly the bones and tissues of the jaw, cheekbones, and ears.

Mutations in these genes lead to abnormal development of these structures, resulting in the characteristic features of Treacher Collins syndrome. The exact way in which these gene mutations cause the specific symptoms of the condition is not fully understood.

Treacher Collins syndrome is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. In some cases, however, Treacher Collins syndrome can occur in people with no family history of the condition, due to new mutations in the TCOF1, POLR1C, or POLR1D genes.

What is the treatment for Treacher Collins syndrome?

The treatment for Treacher Collins syndrome focuses on managing the symptoms and addressing any complications that may arise. Treatment is often multidisciplinary, involving a team of healthcare providers such as craniofacial surgeons, plastic surgeons, otolaryngologists (ear, nose, and throat specialists), speech therapists, and psychologists.

Treatment options for Treacher Collins syndrome may include:

1. Surgery: Surgery may be recommended to correct or improve facial abnormalities, such as cleft palate, jaw abnormalities, or ear malformations. Multiple surgeries may be needed over time to achieve the desired outcome.
2. Hearing aids: Individuals with hearing loss may benefit from hearing aids or other assistive devices to improve their hearing.
3. Speech therapy: Speech therapy may be recommended to help individuals with Treacher Collins syndrome improve their speech and communication skills.
4. Dental care: Regular dental check-ups and care are important to address any dental abnormalities, such as missing teeth, crowding, or misalignment.
5. Psychological support: Living with Treacher Collins syndrome can be challenging, and individuals and families may benefit from psychological support to cope with the emotional and social aspects of the condition.
6. Education and support: Education about Treacher Collins syndrome and support groups can help individuals and families connect with others facing similar challenges and access resources and information.

It’s important for individuals with Treacher Collins syndrome to have regular follow-up care with a healthcare team experienced in treating the condition. This can help ensure that any issues are addressed promptly and that the individual receives the appropriate care and support.