TREACHER COLLINS SYNDROME

Treacher Collins syndrome, or TCS, is an unusual disorder that affects the development of the ears, skull, and a child’s face before their birth. 

Parents can transmit the disease along through their genes to their offspring, although the syndrome often develops without notice.

SYMPTOMS

Treacher Collins syndrome symptoms can range from severe to mild. Because the changes in their faces are minor, some youngsters may go undiagnosed.

Furthermore, TCS children may exhibit some or all of the following characteristics:

  • missing or small cheekbones 
  • cleft palate
  • small, missing, or out-of-position outer ears
  • small lower chin and jaw
  • Down-slanting eyes
  • Small upper jaw
  • malformed eyelids
  • defects in the middle ear

In addition, feeding, speech, breathing, and hearing difficulties can all be caused by these physical issues. However, the IQ and linguistic development of people with TCS are usually normal.

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

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