New advances and procedures concerning Treacher Collins Syndrome are constantly being developed. Be an advocate for your child!
TREACHER COLLINS SYNDROME
What is Treacher Collins Syndrome?
Treacher Collins Syndrome, also called mandibulofacial dysostosis, affects the head and face. Characteristics include:
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Down-slanting eyes
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Notched lower eyelids
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Underdevelopment or absence of cheekbones and the side wall and floor of the eye socket
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Lower jaw is often small and slanting
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Forward fair in the sideburn area
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Underdeveloped, malformed and/or prominent ears
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Most children with Treacher Collins have normal development and intelligence; however, it is important that there be early hearing tests. Most children with Treacher Collins Syndrome benefit from early intervention speech and language programs.
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Why did this happen?
Treacher Collins Syndrome is believed to be caused by a change in the gene on chromosome 5, which affects facial development. About 40 percent of the time, one parent has the Treacher Collins Syndrome gene. Geneticists can now determine whether the Treacher Collins gene is a new mutation or one that has been passed on. There are new studies being done to see about the possibilities of there being other genes that could be involved with this syndrome.
Will this happen to children I have in the future?
Treacher Collins Syndrome may be inherited from a parent affected with Treacher Collins. There is a 50% change of passing it on if you have it. It may also occur in children of unaffected parents. The chances of Treacher Collins occurring again in children of unaffected parents are minute; however, new genetic studies could change this opinion.
What kinds of problems could my child have?
In addition to the physical characteristics common to Treacher Collins syndrome, your child may have some or all of the following problems:
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Breathing problems and/or eating difficulties
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Most children have a 40% hearing loss in each ear due to abnormalities of the outer and middle ear, which conduct sound to the nerve endings
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The eyes have a tendency to dry out, which can lead to infection
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Cleft palate often occurs with Treacher Collins Syndrome
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Will my child need surgery?
Depending on the severity of the Treacher Collins, your child may need some or all of the following procedures:
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A conductive hearing aid
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Correction of the cleft palate
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Repair of the sidewall and floor of the eye socket
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Repair of the cheekbones
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Repair of the eyelid notches
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Correction of the undeveloped jaw and chin
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Surgery to correct the beak-like nose
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Reconstruction of the ears
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How do I get help for my child?
Your child should be treated by a qualified craniofacial medical team at a craniofacial center. Currently, FACES has information on many of these teams. This is by no means a comprehensive list of all the craniofacial teams.
Please Contact Us for details.
Am I alone?
No! There are many families and organizations who will be glad to talk with you and help you with information and support. Don't forget books, videos, and websites. The listing below will get you started.
FACES: The National Craniofacial Association
We provide financial support for non-medical expenses to patients traveling to a craniofacial center for treatment. Eligibility is based on financial and medical need (Apply Here). Resources include newsletters, information about craniofacial conditions, and networking opportunities. Contact Us for more information.
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Office of Rare Diseases
The Genetic and Rare Diseases Information Center
Excellent web site for finding information on a variety of craniofacial disorders, particularly very rare ones. Information specialists are available to answer your questions. Telephone operation is Monday - Friday, 12 pm to 6 pm Eastern Time. Email or fax requests for information will be answered within 5-10 working days. U.S. Mail requests will be answered within 5-10 working days. NOTE: The center does not give medical advice, provide treatment, or diagnose illness.
Phone: (888) 205-2311
Website: rarediseases.info.nih.gov/diseases/9124/treacher-collins-syndrome
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US National Library of Medicine
Your guide to understanding genetic conditions
Website: ghr.nlm.nih.gov/condition/treacher-collins-syndrome
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Reflections on Treacher Collins
A very informative website that includes personal stories, general Treacher Collins information, and an excellent listing of resources.
Website: www.treachercollins.org/tcs/Welcome.html
TCS Around the World
Map showing TCS around the world. Be sure to check it out and add your name!
Website: www.tcsaroundtheworld.co.uk.
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American Speech-Language-Hearing Association
The ASHA Action Center welcomes questions and requests for information from members and non-members.
Phone: 800-638-8255
Website: www.asha.org
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National Health Law Program
Provides extensive information on health care law affecting families with children who have special health care needs.
Phone: (202) 289-7661
Website: healthlaw.org
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Suggested Reading
Children with Facial Difference:
A Parent's Guide
Written by Hope Charkins, MSW. Excellent resource for parents to help them cope with medical, emotional, social, educational, legal, and financial challenges presented by facial differences of their children. Order from Amazon.com if you cannot find it in your local bookstore.
The Cleft Palate Story
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Written by Samuel Berkowitz, DDS, MS, FICD.
Surgical procedures performed from birth to adolescence are treated in depth; helps parents to understand options and what to expect; appendices on financial assistance, agencies, support groups, and a glossary of terms.
Keep Your Chin Up
Everything You Never Knew You'd Need To Know About Pierre-Robin Sequence
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Written by Jessica Carey
So you've been told that your new baby has a medical condition called Pierre-Robin Sequence. OK. I know you’re scared right now, because I’ve been there. Finding helpful information online was almost impossible, which only made it scarier. That’s I why I wrote this book.
Available here: Keep Your Chin Up
