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Treacher Collins syndrome, also known as mandibulofacial dysostosis or Franceschetti-Zwahlen-Klein syndrome, is a condition characterized by abnormalities of the bones and soft tissues of the head. There is great phenotypic variability in Treacher Collins syndrome, which may affect the eyes, ears, nose, cheeks and jaws.
The facial differences in children with Treacher Collins syndrome typically are bilateral, symmetric and affect the first and second branchial arch structures. Patients with this diagnosis may also have hearing loss or cleft palate. Individuals with the above abnormalities and bilateral absence of the thumbs have Nager syndrome, a diagnosis similar to Treacher Collins.
Treacher Collins syndrome is a rare congenital condition that occurs in 1 of 10,000 newborn babies in a 1:1 male to female ratio. It may be inherited in an autosomal dominant fashion from a parent with Treacher Collins syndrome, or be due to a fresh genetic mutation. The affected gene is TCOF1 on chromosome 5. A parent with Treacher Collins syndrome has a 50% chance of passing the condition to a child.
The most consistent finding in patients with Treacher Collins syndrome is flattening of the cheekbones and drooping of the lower eyelids. The nose may be prominent and the lower jaw and chin may be small. The child may have an overbite and open bite. The ears may be absent or abnormally formed or positioned. There may be conductive hearing loss. A high arched or cleft palate may be present. The hands may be affected in children with Nager Syndrome.
Examination of your child's face and body will help guide your child's doctor toward a correct diagnosis. You will be seen by a geneticist to test whether your child has the genetic mutation that causes Treacher Collins syndrome. A CT and/or an MRI will be used to diagnose the changes in the skull and face that are associated with Treacher Collins syndrome.
A thorough evaluation will be undertaken by the experts at our Craniofacial Center. Your child may also see specialists in consultation to better diagnose and treat his or her particular condition(s). Together we will create a comprehensive treatment plan for your child.
The main concerns in the early treatment planning for children with Treacher Collins syndrome have to do with vision, breathing and hearing.
Vision and eyelid function will be assessed by an ophthalmologist. Ointments may be used in the eyes, particularly when sleeping, to protect the corneas. Eyelid surgery may be recommended to protect the eyes and improve the appearance. The timing of this type of surgery is determined by the severity and presentation of your child's particular symptoms.
The small jaw that is often associated with Treacher Collins syndrome may contribute to breathing and eating problems. Positioning, special feeding devices or tubes may help with these issues. If the symptoms are severe enough, a procedure to lengthen the mandible may be recommended. Some children with difficulty breathing will require a tracheostomy. If your child has a cleft palate, surgical correction may be undertaken between 9-18 months. Speech therapy may be necessary.
An audiologist and an otolaryngologist will evaluate your child for hearing problems and make recommendations regarding the need for hearing assistive devices. Abnormalities of the external ear may be addressed, if necessary, when the child has completed approximately 80% of ear growth. Correction may be undertaken in a staged approach with separate surgeries beginning after the age of 6. An alternative to this is the creation of prosthetic ears.
Reconstruction of the flattened cheekbones may be planned with bone grafts or implants, depending on the needs and age of the patient. Orthognathic jaw surgery may be recommended once the patient reaches skeletal maturity.
Certified Pediatric Nurse Practitioner