Acknowledgement of Treacher Collins Syndrome has not been added yet.

Treacher Collins Syndrome is rare, with an estimated prevalence of about 1 in 50,000 live births. It affects both children born genetically male and female equally and has been reported in various ethnic groups worldwide.

 

Name	Abbreviation
Mandibulofacial Dysostosis
Franceschetti-Zwahlen-Klein Syndrome
Treacher Collins-Franceschetti Syndrome

TCS is primarily caused by mutations in the TCOF1, POLR1C, or POLR1D genes. These genes play crucial roles in the early development of facial bones and tissues. Most cases (approximately 90-95%) are due to mutations in the TCOF1 gene, which encodes a protein involved in the production of ribosomal RNA, essential for cell growth and proliferation. The mutations disrupt the normal development of the facial bones and other structures during embryonic development. TCS is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed to cause the disorder  (see RareShare Guide on Genetic Inheritance). However, some cases result from new (de novo) mutations, occurring in individuals with no family history of the condition.

 

The symptoms of Treacher Collins Syndrome are primarily related to craniofacial abnormalities:

• Facial Features: Individuals with TCS often have underdeveloped cheekbones (zygomatic bones), a small jaw and chin (micrognathia), downward-slanting eyes, and a notched lower eyelid (coloboma). The ears may be small, malformed, or absent, leading to hearing loss.

• Hearing Loss: Conductive hearing loss is common due to abnormalities in the structures of the middle ear, which can affect the ability to transmit sound.

• Airway and Breathing Problems: A small jaw and other craniofacial abnormalities can lead to airway obstruction, making breathing difficult, particularly during sleep (sleep apnea).

Dental Issues: Dental anomalies such as misaligned teeth or missing teeth are common due to the abnormal development of the jaw and palate.

Diagnosis of Treacher Collins Syndrome is typically based on the characteristic physical features and a thorough medical history. A clinical evaluation by a specialist in craniofacial disorders is essential for accurate diagnosis. Genetic testing can confirm the diagnosis by identifying mutations in the TCOF1, POLR1C, or POLR1D genes.

 

• Genetic Testing: Sequencing of the TCOF1, POLR1C, or POLR1D genes is used to confirm the diagnosis of TCS by detecting the specific mutations responsible for the disorder.

• Imaging Studies: X-rays, CT scans, or MRIs of the skull and facial bones may be used to assess the extent of bone abnormalities.

• Hearing Tests: Audiometric tests are used to evaluate the extent of hearing loss and to plan appropriate interventions.

Treatment for Treacher Collins Syndrome is tailored to the individual's specific symptoms and needs, often requiring a multidisciplinary approach:

• Surgical Interventions: Multiple surgeries may be needed to correct facial abnormalities, improve breathing, and address hearing issues. Common procedures include reconstructive surgery for the cheekbones and jaw, ear reconstruction, and cleft palate repair.

• Hearing Aids: Hearing aids or bone-anchored hearing systems may be used to manage conductive hearing loss.

• Speech Therapy: Individuals with TCS may require speech therapy to address speech and language difficulties related to hearing loss or cleft palate.

• Orthodontic Treatment: Orthodontic interventions, including braces or dental surgery, are often needed to address dental anomalies.

The prognosis for individuals with Treacher Collins Syndrome is generally good, especially with appropriate medical and surgical management. While TCS can present significant challenges, particularly related to breathing, hearing, and appearance, most individuals lead normal, healthy lives. Intelligence and cognitive development are typically unaffected, and with early intervention, many of the functional impairments associated with TCS can be mitigated.

 

Tips or Suggestions of Treacher Collins Syndrome has not been added yet.

1. https://medlineplus.gov/genetics/condition/treacher-collins-syndrome/

2. Dixon, J., & Dixon, M. J. (2004). "Treacher Collins syndrome." Orthodontics & Craniofacial Research, 7(3), 159-169.

3. Trainor, P. A., & Andrews, B. T. (2013). "Facial dysostoses: Etiology, pathogenesis and management." American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 163(4), 283-294.

4. Marres, H. A. (1996). "Treacher Collins syndrome: A clinical, radiological, and genetic linkage study in three families." International Journal of Pediatric Otorhinolaryngology, 35(1), 35-47.

5. Splendore, A., Silva, E. O., & Alonso, L. G. (2005). "High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations in the treacle gene." Human Mutation, 26(4), 290-296.