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- Cleft Home
- What is Cleft Lip and/or Palate?
- Prenatal Diagnosis
- Feeding Your Baby
- What is a Cleft Team?
- Surgery
- Hearing, Speech, and Dental Care
- Paying for Treatment
- Managing Feelings
- Craniofacial Conditions
- Toddlers and Preschoolers
- The School-Aged Years
- The Teenage Years
- Letter to a Teacher
- Information for Adults
- Support Organizations
- Learn More: Downloads
What is Treacher Collins Syndrome (TCS)?
Treacher Collins syndrome (TCS), a form of mandibulofacial dysostosis, is a birth condition characterized by a rare group of facial differences.
The severity of TCS varies greatly from one person to the next. The syndrome affects the growth of bone and tissue of the face and can involve the size, shape, and position of the ears, eyes, eyelids, cheekbones, and jaws. There are currently about 10,000 people in the U.S who were born with TCS. The syndrome affects one in 50,000 births.
What causes TCS?
There are many genes involved in the development of the face. TCS occurs when one of these genes changes (mutates). Scientists have identified three genes, known as TCOF1, POLR1C, and POLR1D, that relate to TCS, though there are others still unknown.
In about half of cases of TCS, the condition is passed down genetically from a biological parent to a child (called dominant inheritance) or from both biological parents to a child (called recessive inheritance). In other cases, the mutation happens randomly, without a known cause. It is important for a person born with TCS to see the geneticist, a doctor who studies genes and heredity. This member of the craniofacial team can evaluate your child, make a diagnosis, and share related information with your family.
Who treats Treacher Collins Syndrome (TCS)?
It is important for a person born with TCS to see a craniofacial team, a group of specialists who work together to provide a complete evaluation, optimum treatment planning, and comprehensive services throughout childhood and in some cases into early adulthood. To find a complete list of ACPA-approved teams, see ACPA’s team listings, here.
What are the characteristics and treatments for TCS?
A person with TCS may have some of the characteristics listed below, but not others. Any one of these characteristics, if present, could be mild or severe.
The Airway and Breathing: There are several features of TCS that can cause problems with the airway and breathing:
- A narrow airway in the nose, called choanal atresia
- A drooping of the tongue called glossoptosis
- Problems with the voice box or lower airway
- A set-back upper jaw (maxilla), with steeply angled teeth
- A small lower jaw (mandible), called micrognathia or retrognathia
Some babies born with TCS have mild breathing problems. If problems are severe, treatment may include:
- An endotracheal tube, a temporary tube inserted deep in the airway through the nose or mouth
- A tracheostomy, a temporary or permanent breathing tube placed into the neck by a surgeon
- A surgical procedure to open the space of airway in the nose (if a person has choanal atresia)
- A jaw lengthening procedure called distraction osteogenesis that can help with breathing and help a person avoid a tracheostomy
- Reconstructive jaw surgery, which can correct the bite and treat airway obstruction during the teenage or adult years (learn more about craniofacial construction, below)
Many people born with TCS undergo frequent sleep studies. Breathing must be watched throughout life.
Feeding and Growth: Many babies and children born with TCS have trouble eating. In most cases, these issues occur when a person is born with a cleft palate or has problems with breathing. But in some cases, a person with TCS has trouble eating because the opening in the mouth is small or because the top and bottom teeth don’t meet the way they should.
Some people with TCS have problems with the salivary glands, that organs in the mouth that produce liquid (saliva) to keep the mouth moist. If the salivary glands don’t produce enough saliva, a person can have trouble chewing and swallowing food.
A baby born with TCS may need help from a feeding specialist and may require a feeding tube. With time, most kids with TCS eat normally. The craniofacial team will monitor eating and weight during childhood.
The Palate: Some people born with TCS have a high arch in the roof of the mouth. Others have either a gap in the roof of the mouth (called a cleft palate) or a gap between the muscles under the mucous membrane of the roof of the mouth (called a submucous cleft palate).
In most cases, a surgeon closes a cleft palate during a baby’s first year. Closing a cleft palate helps with feeding and speech. Occasionally, closing a cleft palate increases problems with airway obstruction. A baby with a submucous cleft palate may not need surgery right away. The team usually closes this type of cleft later in childhood if it affects speech.
The Eyes: Many people born with TCS lack bone and tissue around the eyes, which can cause the eyes to slant downward. The lower eyelids may also have a notch called a coloboma. Eyelashes may be missing on the inner edges of the lower eyelids as well.
Sometimes, a lack of tissue in the eyelids can cause dryness of the eye. Although blindness is not part of TCS, dryness can lead to damage to the eyes and some loss of sight. The craniofacial team usually suggests operating on parts of the eyes and eyelids early in life and may suggest other procedures later in childhood, for appearance or to protect the eye.
The Cheekbones and Jaw: When a person is born with TCS, parts of the cheekbones may be missing or small. These differences can affect the shape of the cheeks and the position of the eyes. The craniofacial team uses several ways to build and change these parts of the face, including a surgical technique called bone grafting.
Jaw surgery, called, orthognathic surgery is a procedure to correct the bite, change the appearance of the face, reduce mouth breathing, decrease airway obstruction, and improve a person’s ability to chew. If the jaw joints (temporomandibular joints or TMJ) are not formed correctly, it is possible that new jaw joints will be needed as well.
The methods and the timing of cheekbone and jaw procedures depend on a child’s symptoms, breathing, social and emotional health, and the experience of the team. This type of treatment is called craniofacial construction. It usually happens during the teenage years.
The External Ear: Many people born with TCS are born with a small or missing external ear, the part of the ear that shows when you look at a person. This condition is called microtia. A surgeon can build an ear, either by using tissue from somewhere else in a child’s body or by using synthetic material. The process of building an ear is called auricular construction. In some cases, a surgeon may suggest an artificial ear (called a prosthetic ear). Building an external ear has no impact on hearing.
Hearing: People born with TCS are at risk for hearing loss. Some have a narrow or missing ear canal, called aural atresia, which can cause hearing loss. It is also possible that a person born with TCS lacks an eardrum or middle ear bones (called ossicles). In some cases, these structures can be built through surgery, making hearing possible.
In other cases, the parts of the ear are present at birth but irregularly shaped, causing conductive hearing loss on one or both sides. With this type of hearing loss, the hearing nerve works normally but the sound cannot reach it through the structures of the middle ear. A Bone-Anchored Implant or Bone-Anchored Hearing Aid (BAI or BAHA) can help transmit the sound.
Fluid in the Ears: Many people born with TCS have persistent fluid in the ears, called chronic otitis media. Pressure-equalization tubes (commonly called PE tubes or ear tubes) are tiny tubes placed into the eardrum by a surgeon. By allowing the fluid to drain, ear tubes can improve hearing and reduce the chances of ear infections.
Speech: People with hearing problems can have a hard time learning to speak. Fortunately, normal speech is possible for people with TCS once they can hear properly.
Children born with a cleft palate may develop issues with speech, such as a nasal tone of voice. After the cleft palate is closed, children should have regular speech evaluations from the speech-language pathologist on the cleft team. In many cases, speech problems can be solved with speech therapy. Sometimes, another operation is needed.
The Nose: About one in 10 people with TCS (11%) is born with extra bone or tissue at the back of the nose, called choanal atresia or stenosis (as mentioned above). This extra material narrows the airway, causing difficulties with breathing. Surgery can open up the space. If the wall between the nostrils is curved or slanted, called a deviated septum, another procedure can straighten it. Both procedures can help with breathing.
It is common for people born with TCS to have a curved bridge of the nose. The nose may look prominent because of the small size of the jaw and cheekbones. Later in life, a child may have an operation to change the shape and appearance of the nose (the combined procedures are called septoplasty and rhinoplasty). The team usually recommends undergoing this operation later in adolescence, following craniofacial construction (described above).
Soft Tissues: For some people born with TCS, the skin and fat of the cheeks and temples, called facial soft tissues, are thin. Also, the muscle of the cheek may be separated from the tissues. This separation can cause a dent in the cheeks, near the corners of the mouth.
Later in childhood, after craniofacial construction, the team may suggest ways to build up the tissues of the cheeks. One method, fat grafting, involves injecting fat into the cheeks that has been removed from elsewhere in the body (using liposuction). Another approach, an operation called free flap, involves transferring larger pieces of tissue that include blood vessels. Both procedures are called soft tissue augmentation.
Will the facial differences of TCS change over time?
The facial differences associated with TCS are not progressive, meaning they do not worsen over time. As a person grows, however, parts of the face will grow and change in appearance. The size and shape of the airway will also change over time. The health professionals on the craniofacial team should monitor a child’s growth and development regularly during childhood, including their vision, hearing, sleeping, and oral health.
Will my child’s development be delayed?
Most children born with TCS have normal ability to think and reason (cognitive development). Intelligence is usually normal and in some cases higher than the general population.
Some children born with TCS have learning delays. Hearing loss and a cleft palate, for instance, can interfere with the process of learning speech. In many cases, a speech delay can be shortened or avoided with early testing and treatment.
Where can I find support?
Every parent will have their own responses to learning about their child’s TCS. As you work through your feelings and find out more about the condition, consider looking for emotional support. Some families feel reassured when they talk with others going through the same experience. Some find comfort through counseling or an online support group. There are many options.
The members of the craniofacial team will also provide ongoing support. The team will:
- Work with you to create and carry out a comprehensive treatment plan for your child
- Provide education and support related to feeding and breathing
- Connect you and your child to sources of emotional support, including other families with children born with TCS
- Offer support before and after operations
