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Treatment of Treacher Collins syndrome in New York includes management of symptoms, as well as correction of malformed or deformed facial structures. Treacher Collins syndrome (TCS) is an extremely rare genetic condition that affects the development of a child’s facial features. As the severity of the condition varies from person to person, early diagnosis and intervention is vital.
Treacher Collins Syndrome
Treacher Collins Syndrome is typically bilateral and symmetrical and involves the outer eyelids, cheekbones and jaws; the downward slanting outer corners of the eye from the missing or small cheekbone (zygomatic arch) give a saddened appearance, and the small lower jaw give an open bite deformity. It ranges from a mild to a severe deformity. Since Treacher Collins is autosomal dominant, the condition can affect others in the same family.
Cause of Treacher Collins Syndrome
Treacher Collins syndrome, also known as mandibulofacial dysostosis, is attributed to the genetic mutation of TCOF1, POLR1B, POLR1C, or POLR1D genes. It may be inherited or appear sporadically without any history in the family.
Many parents do not know their child has the condition until the baby is born. However, regular ultrasounds during prenatal check-ups can detect severe facial deformities.
Diagnosis of Treacher Collins Syndrome
TCS can be diagnosed during a consultation with Dr. James P. Bradley. A thorough examination of the baby’s physical characteristics will be performed. Additional laboratory and imaging tests may be performed to check for the presence and/or extent of abnormalities. Molecular genetic testing is the best way to confirm the condition, since TCS can exhibit similar symptoms with other craniofacial conditions.
Correction of Treacher Collins Objectives
- Improve cheekbone projection and support for the eyelids. (Zygomatic bone grafts/Eyelid switch flaps procedures)
- Rebuild lower jaw to improve the airway and provide the best dental bite. (Distraction procedure)
- Create a new external ear from a child’s own cartilage when needed. (Microtia repair)
- Transplant fat and soft tissue for a smooth symmetrical cheek contour. (Fat grafting)
Treatment for Treacher Collins
There are different treatment approaches for each patient, since treatment is tailored specifically to address specific symptoms. Cleft palate, hearing loss, breathing difficulties, and mandibular problems can all be addressed to improve the patient’s quality of life.
Surgical intervention and reconstruction surgery may be necessary to correct severe deformities. Some surgeries will be performed after the child has fully developed facial structures. Other procedures cannot be performed until the patient is of legal age. Dr. Bradley will work closely with the child’s other specialists to create a comprehensive treatment approach.
Recovery After Treacher Collins Surgery
The recovery process varies from patient to patient depending on the extent and complexity of the procedures performed. Downtime for corrective surgeries can take a few weeks to several months. Make sure to follow Dr. Bradley’s post-surgical care directions as closely as possible during recovery.
What is the right age for my child to start reconstruction?
The timing will consider the functional problems, social integration, and minimizing the number of surgical procedures. Your child’s treatment plan, including the best timing of the procedures, is unique for your child. Many of the procedures including jaw and ear reconstruction, happen between 5-8 years of age. ‘Final-stage’ procedures happen in the late teen-aged years.
Which specialists should be following my child?
Dr. Bradley will work with the ENT surgeon, orthodontist, speech pathologist, audiologist, and any other specialists closely so that all needs are met at the appropriate time.
Contact Us Today
Learn more about Dr. Bradley’s personalized approach to treatment of Treacher Collins in New York. Contact us today to schedule a consultation.