DIAGNOSIS
Your doctor will diagnose TCS after a physical examination of your infant. Because multiple distinct genetic illnesses might create similar symptoms, your doctor may utilize genetic testing to pinpoint the one that is most likely to cause you problems with TCS.Additionally, your child’s characteristics will give your doctor with all of the information they require.
Furthermore, your doctor may request the other members of your family be examined and tested as well. This will show very mild cases as well as cases where a person is a recessive gene carrier.
Additionally, an amniotic fluid, skin, or blood sample is taken and sent to a lab for genetic testing. Mutations in the TCOF1, POLR1C, and POLR1D genes are being studied.
TREATMENT
TCS is not curable, but its symptoms can be controlled. The treatment strategy for your child will be adapted to their specific needs.
The following professionals may be included in the care team, depending on the required treatments:
- throat, nose, and ear specialist
- plastic surgeon
- nurse
- eye doctor
- geneticist
- pediatrician
- dentist
- speech therapist
- hearing specialist
- psychologist
Treatments that safeguard your child’s feeding and breathing will be prioritized. Hence, treatments may involve all of the following:
- Speech therapy
- Appliances to correct jaw and tooth alignment
- Lower chin and jaw reconstruction
- Eye socket repair
- Cheekbone rebuilding
- Outer ear reconstruction
- Hearing aids
- Psychological counseling
- Cleft palate surgery
- Upper jaw surgery
- Eyelid surgery
- Ear canal correction
- Nose surgery to make breathing easier