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Treacher Collins Syndrome


Treacher Collins Syndrome (TCS) affects one in every 20,000 children in the U.S. each year. While this condition does not affect intellect, it impacts the development of the bones and other tissues of the face. There is no cure, but symptoms can be managed with surgical treatment and other therapies. Signs and symptoms will vary greatly, ranging from nearly imperceptible to severe. Most children who suffer from this condition have underdeveloped facial bones, especially the cheek bones, and a small chin and jaw (micrognathia). In some cases, the airway can be compromised by the small lower jaw, leading to serious, life-threatening health concerns and a tracheostomy at birth. Dr. Charles Thorne works with a multi-disciplinary team in New York, NY, performing a range of treatments to help manage the symptoms of TCS and improve your child's health and appearance. Once a member of a family develops TCS, 50 percent of that patient's children will also be affected.
Genetic mutations can cause Treacher Collins syndrome, which affects one in every 20,000 children in the U.S. each year.

Causes and Effects

TCS is caused by mutations that occur in specific genes during pregnancy. These mutations most commonly occur in the TCOF1 gene, but can also affect POLR1C or POLR1D genes. When the TCOF1 gene becomes mutated, TCS can become a dominant trait that can more easily be passed onto children. Mutations of the POLR1C or POLR1D genes will lead to recessive traits. As a result, 40 percent of children with TCS have inherited the condition from their parents. All other cases result from new mutations. 

The effects of TCS can range from nearly imperceptible asymmetry to severe deformities in the face and head. Primarily, the condition is associated with an underdeveloped lower jaw. Micrognathia can result in difficulties with speech, eating, and breathing. Underdeveloped bones in the ear can lead to significant hearing issues, and malformed eyelids may affect the eyes as well. Many children can suffer from life-threatening disabilities that require tracheostomies and other serious interventions to manage the condition and its effects.

Dr. Thorne works with a multi-disciplinary team at Lenox Hill Hospital. Together, they can provide necessary treatment to manage TCS and improve the quality of life for your child. 

Treatments and Therapies

Patients typically undergo multiple surgeries and treatments to manage the symptoms of TCS, including:

  • Surgery to repair cleft palate and lip, if present
  • Hearing aids for conductive hearing loss
  • Bone and fat grafts to rebuild and augment underdeveloped cheeks
  • Surgeries to address lower eyelid problems
  • External ear reconstruction, which may include techniques for microtia such as grafts from rib cartilage
  • Advancement of lower jaw to improve breathing and aesthetics
  • Nose reconstruction
  • Orthodontics
  • Further fat or other tissue grafts to enhance features as the patient matures

Dr. Thorne works with a multi-disciplinary team at Lenox Hill Hospital. Together, they can provide necessary treatment to manage TCS and improve the quality of life for your child. 

Contact Us Today

If your child has been diagnosed with Treacher Collins syndrome, contact our office online or call (212) 794-0044 to schedule a consultation with Dr. Thorne. He can perform a thorough evaluation to assess your child’s needs and develop an appropriate treatment plan. 

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"These are just a few of the adjectives to describe my experience and visit with Dr. Thorne. His professionalism, expertise, and manner was reassuring and comforting to me... I have referred family, friends, and co-workers."

From a Review on Vitals.com

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