There is no cure for TCS. Treatment is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, pediatric ear, nose and throat specialists (pediatric otolaryngologists), pediatric dentist, pediatric nurse, plastic surgeon, speech pathologists, audiologists, ophthalmologists, psychologists, geneticists, and other healthcare professionals may need to systematically and comprehensively plan an affect child’s treatment.
Physicians regularly monitor individuals with TCS to detect certain abnormalities that may be associated with the disorder. For example, an affected individual’s hearing should be carefully monitored to detect any onset of hearing loss. Assessment of an infant’s hearing is critical and a full assessment should be done early during life, even before one year of age and then yearly, to ensure proper speech development.
An instrument (ophthalmoscope) is used to visualize the interior of the eye to detect any possibility of visual impairment. This examination is important to ensure appropriate preventive steps and/or prompt treatment for those who exhibit abnormalities of the eyes in association with TCS (e.g., colobomas, strabismus, microphthalmia). Affected individuals should also be monitored for jaw and dental abnormalities.
Early intervention is important to ensure that affected children reach their potential. Special services that may be beneficial include speech therapy, special social support, and other medical, social, and/or vocational services.
Genetic counseling is recommended for affected individuals and their families.
Surgery In some patients, surgical reconstruction of craniofacial malformations may be necessary. Surgery may be performed to repair cleft palate, to reconstruct the jaw, or to repair other bones in the skull (e.g., malar bones, zygomatic complex). The specific surgical procedures used and the age when surgery is performed depends upon the severity of the malformations, overall health and personal preference.
For example, different abnormalities may be treated at different ages. Cleft palate is often corrected around 1-2 years of age. Zygomatic and orbital reconstruction usually occurs around 5-7 years of age. External and inner ear reconstruction usually occurs around 6 years of age. Jawbone lengthening or reconstruction can range from newborn to teenager years depending upon the extent and severity of the condition.
Obstructive airways can be a serious problem not always obvious to parents or clinicians. A sleep or nap study may be used to help determine the severity of the obstruction and may influence the treatment plan. In severe affected individuals, a tube may be surgically inserted into the windpipe (trachea) to maintain an effective airway, a procedure called a tracheostomy. A procedure known as mandibular distraction, which is used to increase the length of the jawbone, may be necessary. A tube may be surgically implanted into the stomach to assure that affected infants experiencing feeding difficulties receive sufficient calories (gastrostomy).
Multiple surgeries may be required to treat the various craniofacial abnormalities that are associated with TCS. Despite the number of surgeries, results vary from one person to another and the end result is rarely fully corrective.
In some individuals, an operation may be performed to help correct middle ear malformations and associated conductive hearing loss. However, specialized hearing aids such as bone-anchored hearing aids (BAHA) may suffice rather than surgery in most patients. Bone-anchored hearing aids transmit sound directly through bone into the inner ear, bypassing the external ear canal and the middle ear (both of which are often affected in individuals with TCS. Reconstructive surgery may be performed to help correct outer ear malformations for functional and cosmetic reasons. Generally, reconstruction of the external ear should be performed first.
Additional Therapies In individuals with TCS who exhibit eye abnormalities and associated visual impairment, corrective glasses, contact lenses, surgery, and/or other supportive techniques may be used to help improve vision in some cases. Artificial teeth (dentures), dental implants, braces, dental surgery, and/or other corrective procedures may be used to correct dental abnormalities.
Anesthesia Considerations Structural airway problems associated with TCS can make it difficult for anesthesiologists to manage and maintain an airway during surgery. Proper evaluation including a comprehensive preoperative assessment and complete clinical history should be performed to best plan an anesthetic strategy.