New advances and procedures concerning Stickler Syndrome are constantly being developed. Be an advocate for your child!
STICKLER SYNDROME
What is Stickler Syndrome?
Stickler Syndrome may be the most common tissue disorder in the United States, possibly affecting 1 in 10,000 persons. People with Stickler Syndrome have the following characteristics:
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Some degree of cleft palate
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Cataracts and/or retinal detachment at an early age
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A flat face
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A small jaw
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Skeletal abnormalities
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Why did this happen?
Doctors believe it is the result of a mutation of the genes during fetal development. Three genes have been identified as causing Stickler Syndrome: COL11A1, COL11A2 (non-ocular), and COL2A1 (75% of Stickler cases). Other genes may also cause Stickler Syndrome that have not yet been identified.
Will this happen to children I have in the future?
Stickler Syndrome tends to run in families. There is a 50% chance of passing it on to future children if you carry the trait.
What kinds of problems could my child have?
In addition to the physical characteristics common to Stickler Syndrome, your child may have the following problems:
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Joint pain
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Scoliosis
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Hearing loss
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Mitro valve prolapse
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Will my child need surgery?
Depending on the severity of the Stickler Syndrome, your child may need some or all of the following surgeries:
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Repair to the cleft palate
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Surgery to correct retinal detachment and/or to remove cataracts
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Regular hearing and eye exams
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Corrective dentistry due to the small jaw
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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.
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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 information below will help you get started. (Facebook has dozens of private groups specific to conditions. Try searching Facebook with a few different key words such as "craniofacial" or "burn" and find groups of parents and others with similar differences.)
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/10782/stickler-syndrome
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US National Library of Medicine
Your guide to understanding genetic conditions
Website: ghr.nlm.nih.gov/condition/stickler-syndrome
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Stickler Involved People
SIP is a network whose purpose is to educate and give support to people affected by Stickler Syndrome. Be sure to ask about the book, Stickler-The Elusive Syndrome, written by Wendy Hughes, which explains the condition in lay-friendly, positive terms. See suggested reading below.
Phone: (316) 259-5194
Website: stickler.org
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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
This US National Library of Medicine site answers many of the genetic questions regarding Stickler Syndrome.
Website: ghr.nlm.nih.gov/condition/stickler-syndrome
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.
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
Stickler-The Elusive Syndrome:
Written by Wendy Hughes, which explains the condition in lay-friendly, positive terms.
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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.
