Treacher Collins Syndrome

Treacher Collins syndrome is a genetic birth defect characterized by a range of distinctive craniofacial anomalies that can affect the eyes, ears, cheeks, palate and jaw. A distinctive facial appearance is characteristic of Treacher Collins syndrome. All patients with the disorder share similar observable traits of the disorder, ranging from mild to severe. These traits include eyelid abnormalities, cheek clefts, small jaw and ear anomalies.

The various regions of the face affected may vary in severity. For example, a child with the disorder may have a relatively normal appearance in the eye region, but have absent ears and a severe hearing deficiency. Another child with Treacher Collins may have downward slanted eyes along with a small lower jaw and pronounced overbite, but normal-looking ears. In some cases, all craniofacial regions are severely affected; in others, all regions are mildly affected.

Watch this short video to learn more about Treacher Collins syndrome.

Treacher Collins syndrome, also known as mandibulofacial dysostosis, is a hereditary condition that affects an estimated one in 50,000 people.

Mutations in the TCOF1, POLR1C or POLR1D gene can cause the syndrome and account for up to 95 percent of all cases of Treacher Collins. Research shows that proteins produced by these genes play an important role in the prenatal development of bones and tissues in the face.

In the remaining cases of Treacher Collins without an identified mutation of one of these genes, the genetic cause is unknown.

While Treacher Collins syndrome is characterized by a distinctive facial appearance, it presents differently in each individual. Symptoms may include a combination of the following.

• Eyes: downward sloping eyes; slight notching of the lower lids; small, underdeveloped or missing eyebrow bones; vision problems
• Ears: small or missing ears; no ear canal (aural atresia); missing bones in the ear affecting hearing;hearing problems
• Mid-face: small, underdeveloped or missing cheekbones
• Jaw and lower face: small or underdeveloped maxilla (upper jaw) or mandible (lower jaw); cleft palate; wide mouth (macrostomia); tongue retraction/displacement (glossoptosis); speech and swallowing problems; airway, breathing and sleep problems

Children with Treacher Collins syndrome may also have hand and thumb anomalies. These conditions may be managed through CHOP’s Hand and Arm Disorders Program.

The diagnosis of Treacher Collins syndrome can be made before or after birth. Some of the abnormal facial features are visible during prenatal ultrasound. If you are pregnant and your unborn child has these distinctive characteristics, you may be referred to CHOP’s Center for Fetal Diagnosis and Treatment.

Most children are not diagnosed with Treacher Collins until after birth. In this case, doctors in CHOP’s Craniofacial Program will evaluate your child. Experienced physicians will make the diagnosis based on your child’s appearance: the characteristic eyelid abnormalities, cheek clefts, small jaw, and ear anomalies.

Your child’s healthcare team may also test her DNA to determine if any of the genes associated with Treacher Collins syndrome are present. Not all patients with the syndrome have genetic markers. Additional diagnostic tests include X-rays and CT scans to better examine your child’s bone and cartilage structure.

Some of the facial characteristics of Treacher-Collins syndrome mimic those seen in children with hemifacial microsomia; but hemifacial microsomia differences are typically one-sided or asymmetric, whereas in Treacher Collins, characteristics are similar on both sides of the child’s face.

The treatment of Treacher Collins syndrome varies tremendously from patient to patient and depends on the severity of the deformity and long-term needs of the child. Consultation with an experienced craniofacial team is extremely important in achieving the best outcomes for your child.

At CHOP — where we have expertise in every pediatric specialty — your child will have access to a multidisciplinary healthcare team and coordinated care through our Craniofacial Program or Neonatal Craniofacial Program, which offers specialized care for infants. We will work with you to prioritize your child’s needs and establish a comprehensive treatment plan that addresses both physical and psychosocial needs, including planning for staged surgical repair and reconstruction.

Timing can be a critical factor in treatment. Some issues, such as trouble breathing, need to be addressed immediately. Your child may benefit from waiting until she reaches certain developmental milestones before proceeding with other treatments, such as plastic surgery.

Children with Treacher Collins syndrome will likely have a combination of the following treatments depending on their unique condition.

Airway issues

At birth, if your child has an airway obstruction, she may need a variety of procedures to help her breathe better, including:

• Lengthening of the jaw via distraction osteogenesis
• Tongue-lip adhesion
• Severely affected children may need a tracheostomy for the first several months or years of life until more definitive procedures can be performed

Cleft palate

If your child has a cleft palate — a condition where the roof of the mouth does not close fully during fetal development — it is typically repaired when your child is about a year old. Learn more about the surgical repair of cleft palate.

Eyes

If your child’s eyes are exposed, lubricants and surgical procedures to rearrange the eyelids and partially close the eye may be required to protect the eyes.

Cheeks and eyelids

One of the most challenging aspects of Treacher Collins syndrome is repairing the cheek and eyelid region. Although bone grafting can correct the bony deficiencies, these bones have a high risk of reabsorption over time. Frequently, one or more bone grafting procedures may be required, and at skeletal maturity an artificial cheek implant may be considered. Facial soft tissue augmentation, either through fat grafting or tissue transfer, also functions to enhance form and function of the cheeks.

The eyelids can also be challenging to treat due to the scarcity of tissues in the region and the involvement of the lids. Treatments to address these issues include:

• Tissue transfer from the upper lower lid
• Re-suspension of the corner of the eye (canthopexy)
• Skin grafts
• Other local tissue rearrangements

Ears

Management of the ear anomalies can range from a simple set-back otoplasty procedure for minimally affected individuals, to total ear reconstruction with cartilage taken from the ribs for those with more severe deformities. Hearing augmentation with a Baha® band or an osteointegrated bone-anchored hearing device may be used to address hearing issues.

Children with ear anomalies will receive coordinated care through our Ear Deformities Program.

If you have any questions about your child’s individualized treatment, please talk to her healthcare team.

As your child with Treacher Collins syndrome grows into adolescence and adulthood, she should continue to be monitored by experienced physicians who can make treatment plan adjustments as needed.

Because multiple body systems are involved in Treacher Collins syndrome, continued monitoring for complications and any treatment as needed are important to optimal long-term outcomes. Treatments done in infancy and childhood may need to be repeated as your child grows and develops.

CHOP’s Craniofacial Program brings together the many specialists your child may need to see, including:

• A plastic surgeon to manage the stages of surgical repair
• A pulmonologist or airway specialist from CHOP’s Center for Pediatric Airway Disorders to assess any breathing issues
• An otolaryngologist (ear, nose and throat specialist) or audiologist (hearing specialist) to monitor and treat any ear and hearing issues
• A speech therapist to address any speech problems
• An expert from the Pediatric Feeding and Swallowing Center to address any feeding-related issues
• An orthopaedic doctor with expertise in hand deformities (if these are present in your child)
• A dentist and/or orthodontist to assess dental health, crowding of teeth and how well the jaw fits together
• A psychologist or social worker to address emotional and psychological issues related to appearance differences and any other concerns

During follow-up visits, diagnostic testing may be done. The goal of continued monitoring is to help spot any irregularities in growth or development and to address health issues as they develop.

Follow-up care and ongoing support and services are available at our Main Campus and throughout our CHOP Care Network. Our team is committed to partnering with parents and referring physicians to provide the most current, comprehensive and specialized care possible for your child.

Because Treacher Collins syndrome affects multiple body systems, experienced, multidisciplinary team care is extremely important in achieving the best outcomes for your child.

At CHOP, children with Treacher Collins syndrome have access to the nation’s top pediatric specialists and coordinated care through our Craniofacial Program and Neonatal Craniofacial Program. Our team works closely with parents and referring physicians to addresses both physical and psychosocial needs associated with this syndrome, including surgical repair, airway management, feeding and breathing support, orthodontic needs, management of vision and hearing problems and long-term follow-up care.

Watch our educational video to hear from clinicians and families about the coordinated care we provide to children with craniofacial conditions, including Treacher Collins syndrome.

Reviewed by: Scott Bartlett, MD and Jesse Taylor, MD
Date: February 2014