Treacher Collins

1. What is Treacher Collins?

Treacher Collins is a syndrome, also known as Mandibulofacial Dysostosis, and affects the structure of the face. Some characteristics of Treacher Collins are:

• under-developed ears or missing ears (Microtia)

• lower set ears

• absence of an external auditory ear canal (Atresia)

• hearing loss (due to Atresia)

• underdeveloped jaw or an asymmetrical jaw that is lower on one side of the face (Hemifacial Microsomia)

• narrow forehead

• eyes that tilt downward that are not centered called an Antimongoloid slant

• cleft palate

• pulled down lower eyelids, “sometimes” called a Coloboma with missing eyelashes on the lower eyelids

• thin or loose lying skin over the cheekbones called orbital clefts with absent zygomas

• a larger than normal mouth

• a hair line that may be lower than normal (sometimes to the cheek line)

• absent or small thumbs with a soft palate may mean there is an associated syndrome called Nager variant

2. Is Treacher Collins genetic?  Yes.

Treacher Collins is passed down through families and is caused by a defective protein called Treacle. It is suggested to seek genetic counseling when planning a family and considering have a child.

3. How does Treacher Collins affect my child?

Children having Treacher Collins syndrome can grow to become normal functioning adults and live normal lives. An individual affected by Treacher Collins will have normal intelligence. However, someone with Treacher Collins may have trouble eating and speaking and communicating clearly. Someone with Treacher Collins may also have difficulty breathing where the use of a tracheal tube may be needed. A tracheal tube is a tube that is inserted into the trachea that can help with breathing and establish maintaining a patent airway needed to ensure an adequate exchange of oxygen and carbon dioxide. Vision problems may be an issue as well, but can often be helped with the use of eye glasses.

4. Can my child have surgery?  Yes.

Your child can have surgery through the help of a couple of specialists.

Craniofacial Surgery:

A craniofacial surgeon can help your child with jaw reconstructive surgery through the use of bone grafts that can help lengthen his/her jaw. It is often suggested to wait for this type of surgery until after the pubescent years, anywhere from age thirteen to seventeen. The reason for waiting is because your child is still developing and their skull and face is still growing. It is best to wait until the bone growth has become more stable. However, it is strongly suggested to begin taking your child to a pediatric craniofacial surgeon following his/her birth. It is possible the surgeon may consider using a jaw distraction insert which can be used on children at early years of age and helps to stretch their jaw bone a bit more or to help prevent their jaw bone from pulling upward more as he/she continues to grow. Regardless, please know that you can have surgery for your child that will help to straighten their jaw line out. It is also important to take your child to a craniofacial surgeon as some children have difficulty eating and breathing because of their crooked jaw line. A surgeon can help explain what options you have that can help your little one be more comfortable until you are ready for surgery if that is something that you are considering for your child.

Rib Graft and Medpor Ear Reconstructive Surgery:

Another surgery that may be considered to help your child is ear reconstructive surgery. There are currently tow techniques to choose from: Rib Graft which involves taking a section of your child’s rib to construct a cartilage framework that is then shaped into an ear and then is covered by a skin graft. Rib Graft surgery can be achieved anywhere from one stage to four or more depending on the difficult of the surgery. Some issues that may require additional stages of surgery are: dealing with a higher or lower hair line and making sure that the newly reconstructed ear is centered and symmetrical to the biological non-affected ear due to an irregular shaped skull such as in individuals with Treacher Collins. A Rig Graft ear will feel pain, experience bleeding, and heal. The earliest age for Rig Graft surgery is age five. However, it is more common during the ages between six and ten. There are some Rig Graft surgeons who can perform surgery in just one stage.

For Medpor, some of the same circumstances will be taken into consideration. However, Medpor surgery can be achieved in one stage of surgery. Medpor differs from Rib Graft by not requiring a rib graft. In place of the rib graft tissue, a synthetic framework is used that is made up of a porous polyethylene material. The already shaped Medpor ear is then sculpted a bit more to match the other biological ear that is not affected and is then covered with a skin graft. A Medpor ear will feel pain, experience bleeding, and heal. Medpor surgery can be performed as early as age three.

Maxillofacial Surgery:

Depending on the severity of Treacher Collins with Hemifacial Microsomia, Microtia and Atresia including additional facial asymmetry, it may be necessary to contact a maxillofacial surgeon or facial plastic surgeon. A facial plastic surgeon can help build up parts of the cheekbone, receded chin, forehead, orbits around the eyes and nose if needed in order to help provide better facial symmetry.

Who can I speak with about Treacher Collins?

If you are looking for someone to speak with about Treacher Collins, ask questions or just simply connect with other families and individuals who have Treacher Collins, please contact the Treacher Collins Foundation at www.treachercollinsfnd.org

Helpful Resources and Readings:

Who can I speak with about Treacher Collins?

If you are looking for someone to speak with about Treacher Collins, ask questions or just simply connect with other families and individuals who have Treacher Collins, please contact the Treacher Collins Foundation at www.treachercollinsfnd.org

Brent, B. (1999). “Technical advances in ear reconstruction with autogenous rib cartilage grafts—a personal review of 1,200 cases.” Plast. Reconstr. Surg 104: 319.

Children’s Craniofacial Association (2005). “A Guide to Understanding Treacher Collins Syndrome” (PDF).http://www.ccakids.com/assets/syndromebk_treacher-collins.pdf

Grealy, Lucy (1994). Autobiography of a Face. New York: HarperCollins.
Johns Hopkins University School of Medicine (2001). “Treacher Collins Syndrome.”

Kiefer, J., Arnold, W., & Staudenmaier, R. (2006 Oct). “Round Window Stimulation with an Implantable Hearing Aid (Soundbridge®) Combined with Autogenous Reconstruction of the Auricle – A New Approach.” ORL : Journal for Oto – Rhino – Laryngology and Its Related Specialties. Vol. 68, Iss. 6; pg. 378.

Medline Plus (2007). “Treacher-Collins syndrome.” http://www.nlm.nih.gov/medlineplus/ency/article/001659.htm

The National Craniofacial Association. http://www.faces-cranio.org/Disord/Treacher.htm

The website of Amie Osborn, M.D., a Treacher Collins patient: http://www.treachercollins.org/

Treacher Collins Family Support Group: http://www.treachercollins.net/