What is Treacher Collins Syndrome?

Treacher Collins syndrome (TCS) is a condition where some of the bones and tissues in the face aren’t fully developed. It is a rare genetic condition and can range from relatively mild to very severe. The jaw, ears, eyelids and cheekbones can be affected.

In more severe cases, a child will have a very small jaw (mandible). Often times that can lead to breathing problems and can result in the need for a tracheostomy. Ear abnormalities can also occur, with small or malformed ears that cause severe conductive hearing loss. Eyelid abnormalities can include the inability to completely close the eyes. Intelligence in children with Treacher Collins syndrome is usually normal if there are no serious breathing problems.

This syndrome occurs in roughly one in 20,000 births.

Treacher Collins syndrome has symptoms similar to other disorders that are part of a larger group, called mandibulofacial dysostoses. Another large group, called acrofacial dysostoses, shares similar symptoms in addition to limb defects. Disorders that fall in this group include Nager syndrome, Miller syndrome, as well as others. The treatment approach is similar for all of these disorders. If you have been given one of these diagnoses for your child, the Treacher Collins Center has the expertise to treat all of these disorders.

Causes of Treacher Collins Syndrome

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.

At Cincinnati Children’s, our Division of Human Genetics plays an important role in the treatment and management of this condition. For families with known or suspected Treacher Collins syndrome, we offer a comprehensive genetics evaluation where we discuss genetic issues such as risk of recurrence and reproductive options. Prenatal evaluation through the Cincinnati Fetal Care Center is sometimes an option as well.

Signs and Symptoms of Treacher Collins Syndrome

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.

Diagnosis of Treacher Collins Syndrome

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.

Treatment of Treacher Collins Syndrome

At the Treacher Collins Center, we tailor treatment specific to each child’s needs. Children often need care from a variety of specialists depending on which facial features are affected. We coordinate this care and include other experts as needed. Other departments often involved in caring for these children include:

• Human Genetics
• Pulmonary Medicine
• Plastic Surgery
• Otolaryngology / ENT
• Neonatology
• Speech Pathology
• Feeding Team
• Upper Airway Center
• Audiology

If a child is born with significant breathing problems, we have a special team that evaluates the child shortly after birth. Our aim is to make a diagnosis and begin treatment as early as possible.

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.

We often follow patients with Treacher Collins syndrome at Cincinnati Children’s until age 22. We work with the transition to adult care as needed.

Long-Term Outlook

Today, technologies such as bone-anchored hearing aids / Baha, and surgeries such as those to expand the jaw, allow many children with Treacher Collins syndrome 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. Our center has very good outcomes for the wide range of treatment options that we offer.

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.

Associated Complications

Some complications related to Treacher Collins syndrome are:

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

We have experts in each of these areas to help care for your child should one of these complications arise. Our team approach ensures a full scope of care is offered to children with Treacher Collins syndrome.