Treacher Collins Syndrome and Bilateral Microtia
Treacher Collins Syndrome 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% of his or her offspring with an unaffected spouse. 60% of all new patients with Treacher Collin’s syndrome are born to unaffected parents and are due to a new mutation in the TCOF1, POLR1C, or POLR1D genes. The physical characteristics can range from mild to severe.
Children with mild forms can have:
- Slight abnormalities to the lower eyelids that appear slanted downwards.
- Abnormalities to their facial bones with flat cheek bones laterally.
- A smaller lower jaw.
- Abnormalities to their ears ranging from grade 1 to grade 3 microtia with possible aural atresia.
Children with severe forms
- Significant breathing problems at birth requiring either a tracheostomy or mandibular distraction within the first week of life.
- A cleft palate that is usually repaired around 12 months of age.
- Feeding difficulties and often need a gastrostomy tube (G-tube) for the first year of life.
- Lower eyelid colobomas with lateral eyelids appearing down slanted.
- Absence of the lateral zygoma and anterior portions of the zygomatic arch that gives them a sunken appearance to their lateral cheeks.
- Bilateral grade 3 microtia with aural atresia so early sound amplification with bone conducting hearing aids is usually initiated within the first few months of life
Children with more severe forms of Treacher Collin’s Syndrome 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 other professionals to help provide multidisciplinary treatment for patients with Treacher Collin’s syndrome.
Patients with Treacher Collin’s syndrome are often confused with patients with bilateral hemifacial microsomia or with Nager Syndrome (patients with nager syndrome often have thumb abnormalities).
Patients with Treacher Collins syndrome often have bilateral microtia and aural atresia. As mentioned above, 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.
Regarding your child’s bilateral microtia, Dr. Griffiths can easily reconstruct both ears. Both ears can usually be reconstructed in two operations. Please contact our office for more information.
Patients with Treacher-Collins syndrome in addition to having bilateral microtia 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. Please contact our office for more information.
What if my child has bilateral microtia, can Dr. Griffiths help us?
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 2 bone conducting hearing devices with a soft band before 2 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 2 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 hearing restoration surgery (canalplasty or a bone anchored implant) is usually performed at the same time as the microtia surgery.
- Learn more about One stage rib graft microtia reconstruction
- Learn more about One stage Medpor microtia reconstruction
- Will health insurance cover my microtia surgery? Please click here for more information
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