Treacher Collins syndrome is caused by a gene mutation. Most commonly, a mutation is found in the gene TC0F1. The other genes known to cause the syndrome are POLR1C and POLR1D. About 40 percent of births are hereditary (passed from parent to child) while the other 60 percent are new mutations.

Treacher Collins occurs in roughly 1 in 20,000 births.

Because the severity of Treacher Collins syndrome can vary widely, the symptoms also vary. A patient who is mildly affected might have minor features of eye changes, such as the eyes slanting downward a bit. Hearing may be normal or the child might have mild conductive hearing loss. A child with a more severe case will have more pronounced abnormalities.

Individuals may have any of the following characteristics:

• Very small jaw and chin (micrognathia)
• A notch in the lower eyelids (eyelid coloboma)
• Absent, small, or unusually formed ears 
• Hearing loss
• Underdeveloped or absent bones of the midface (zygoma and orbit)
• Downslanting eyes
• Malformed lower eyelids with sparse eyelashes
• Flattened or incomplete cheekbones
• Large nose
• Blocked, narrowed or partially blocked nasal passageways (choanal atresia, choanal stenosis or deviated septum)
• Large or malformed outer ears (microtia)
• Small or missing ear canals (atresia)
• Middle ear tiny bone (ossicle) malformations
• Opening in the roof of the mouth (cleft palate)

These characteristics may cause issues with eating, breathing, swallowing, hearing and more.

It’s possible that a parent of a child with severe Treacher Collins syndrome is affected but doesn’t know it because the parent’s case is so mild.

Most cases of Treacher Collins syndrome are diagnosed  soon after birth or within the first year of life. However, it can be diagnosed later in life, especially if it’s a very mild case.

Doctors familiar with the condition often make the diagnosis based on the appearance of the face. Sometimes a special x-ray, called a 3D CT scan, is used to view the facial features in further detail. The diagnosis is confirmed with genetic testing.

A typical course of care involves an age-based approach such as:

• Infants: The main focus is to ensure the baby has a stable airway. If the size of the lower jaw needs to be increased (mandibular distraction), that is often done at this time. Feeding is also a main concern early on. A tracheostomy might be performed during infancy. Hearing can be addressed at this time with bone-anchored hearing aids if necessary.
• Childhood: As your child grows and starts the school-age years, we often address physical appearance. Children ages 6-8 might have another distraction surgery if sleep apnea is still a problem. Other surgeries at this time can include repairing the eyelids and reconstructing the ear.
• Adolescence: Teens sometimes undergo additional surgeries to address further physical characteristics. Procedures depend on each child and how their facial bones and tissues have grown throughout childhood. They might have upper or lower jaw surgery, and/or bone grafting and rhinoplasty if needed. Orthodontics is often addressed at this time as well.

Today, technologies such as bone-anchored hearing aids/Baha, and surgeries such as those to expand the jaw, allow many children with TCS to lead normal lives. The long-term outlook depends on how severe the syndrome is. A mild case may require little intervention, while other patients may have severe breathing problems and require a tracheostomy all their life. The syndrome does not affect children’s ability to learn or be active.

Our care team is very experienced in caring for children with Treacher Collins syndrome. One of our main goals is to help these kids maintain a stable airway while avoiding tracheostomy when possible. We also strive to avoid using long-term feeding aids (such as NG tubes) in children who have distraction surgery.

It is likely your child will continue to have follow-up appointments to monitor their growth and to watch for any related issues that may come up. 

Some complications related to Treacher Collins syndrome are:

• Obstructive sleep apnea (OSA)
• Cleft palate
• Feeding issues