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Treacher Collins Syndrome: An Overview

Treacher Collins syndrome (TCS) also known as mandibulofacial dysostosis is very rare.  It occurs  in 1 out of every 25,000 to 50,000 births.  It is autosomal dominant meaning it is passed from one affected parent to 50 percent of his or her offspring with an unaffected spouse. 60 percent of all new patients with Treacher Collins syndrome are born to unaffected parents and are due to a new mutation in the TCOF1, POLR1C, or POLR1D genes. This condition can have a significant effect on your child's life, impairing their confidence and creating physical limitations. Dr. Russell H. Griffiths can provide treatment at his Boise, ID, practice using the latest techniques and surgical procedures.

Physical Characteristics of Treacher Collins Syndrome

The physical characteristics of this condition can range from mild to severe and affect the head and face. In more serious cases, children can also face respiratory problems and complications eating. 

Children with mild forms may exhibit:

  • Slight abnormalities to the lower eyelids that appear slanted downwards
  • Abnormalities to the facial bones with flat cheek bones laterally
  • A smaller, lower jaw
  • Abnormalities to the ears ranging from grade 1 to grade 3 microtia with possible aural atresia

Children with severe forms may exhibit:

  1. Significant breathing problems at birth requiring either a tracheostomy or mandibular distraction within the first week of life
  2. A cleft palate that is usually repaired around 12 months of age
  3. Feeding difficulties and often need a gastrostomy tube (G-tube) for the first year of life
  4. Lower eyelid colobomas with lateral eyelids appearing down slanted
  5. Absence of the lateral zygoma and anterior portions of the zygomatic arch that gives them a sunken appearance to their lateral cheeks
  6. Bilateral grade 3 microtia with aural atresia. Early sound amplification with bone conducting hearing aids is usually initiated within the first few months of life

Children with more severe forms of Mandibulofacial dysostosis are best managed in centers with a Craniofacial surgeon and team.  Dr. Griffiths is a fully trained Craniofacial surgeon and Pediatric plastic surgeon.  He has formed a team of professionals to help provide multidisciplinary treatment for patients with TCS.

Young girl with Treacher Collins syndrome and Bilateral Microtia atresia

Front view of young girl with Treacher Collins syndrome

Side view of a child with Treacher Collins syndrome and bilateral microtia atresia

Side view of young girl with Treacher Collins syndrome

Treacher Collins Syndrome & Bilateral Hemifacial Microsomia

Patients with Treacher Collins syndrome are often confused with patients with bilateral hemifacial microsomia or with Nager Syndrome (patients with Nager syndrome often have thumb abnormalities).

Patients with Mandibulofacial dysostosis often have bilateral microtia and aural atresia. They can benefit greatly from wearing vibrating hearing aids held on with a soft headband. If you have tried to obtain hearing aids and have been unsuccessful, please contact our office, we can help you fight your insurance company to get what your child needs (We have helped children from all around the country)!  More formal hearing restoration options can be considered when your child is six years and older.

If your child has bilateral microtia, Dr. Griffiths can easily reconstruct both ears. This typically takes two operations. We can review the details during a personalized consultation, as well as answer any questions you may have.

Dr. Griffiths believes in serving his patients and their families with compassion. As such, we can also accommodate long-distance patients and can help you work with your insurance. 

In addition to having bilateral microtia, patients with Treacher Collins syndrome also have abnormalities in the upper and lower jaws, zygomatic arch, malar eminence (cheek bone) and eyelids. As a craniofacial surgeon Dr. Griffiths is well equipped to treat each of these deformities depending upon the individual needs of your child including the latest techniques in orthognathic surgery, osseous distraction and micro-fat grafting.

Bilateral Microtia

If my child has bilateral microtia, can Dr. Griffiths help?

Yes he can! The first thing to understand is that if the bilateral microtia is also associated with bilateral aural atresia (absent ear canals) then bone conduction hearing devices with a softband are mandatory. These devices convert sound into vibrations that can reach the cochlea, which is embedded in the temporal bone. When the device is held against the scalp by a soft headband the vibrations can be heard by the patient. Dr. Griffiths recommends children with bilateral microtia atresia be fitted with two bone conducting hearing devices with a soft band before two months of age. These hearing devices will help stimulate each cochlea which will then send nerve impulses to the auditory cortex of the brain.

How many surgeries are needed to reconstruct both ears?

A patient with bilateral microtia will require a minimum of two separate operations. A single stage reconstruction of one ear will be followed several months later by single stage operation on the other. If the patient with bilateral microtia also has bilateral aural atresia, then we usually perform hearing restoration surgery (canalplasty or a bone anchored implant) at the same time as the microtia surgery.

Before and After:  One Stage Microtia Ear Reconstruction Surgery with Canalplasty for bilateral microtia atresia st 1 of 4
Before and After:  One Stage Microtia Ear Reconstruction Surgery with Canalplasty for bilateral microtia atresia set 2 of 4.
Before and After:  One Stage Microtia Ear Reconstruction Surgery with Canalplasty for bilateral microtia atresia set 3 of 4
Before and After:  One Stage Microtia Ear Reconstruction Surgery with Canalplasty for bilateral microtia atresia set 4 of 4

Before and After: One Stage Microtia Ear Reconstruction Surgery with Canalplasty for bilateral microtia atresia, set 3 of 4.

Schedule Your Consultation

Dr. Griffiths is dedicated to helping improve the lives of his patients by providing the most effective treatment for their needs. Whether your child is suffering strictly from Treacher Collins syndrome or a combination of conditions, he can tailor a treatment plan to establish the best possible results. Dr. Griffiths believes in serving his patients and their families with compassion. As such, we can also accommodate long-distance patients and can help you work with your insurance. Contact our office online or by phone at (208) 433-1736 to schedule a consultation today. 

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My son is experiencing a happiness and a confidence that I have never seen before. You have taken away a big, big hurt...Thank you for making my son happy. Michael, Father of a Former Patient

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Boise Office

100 East Idaho St
Ste 303
Boise, ID 83712

More Info Directions (208) 433-1736

Boise Office

100 East Idaho St
Ste 303
Boise, ID 83712

More Info Directions (208) 433-1736