New advances and procedures concerning Saethre-Chotzen Syndrome are constantly being developed. Be an advocate for your child!
SAETHRE-CHOTZEN SYNDROME
What is Saethre-Chotzen Syndrome?
Saethre-Chotzen Syndrome is a very rare disorder characterized by the following traits:
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Fusion of the cranial structures which sometimes produces an asymmetric head and face
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Low-set hairline
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Droopy eyelids (ptosis) and/or widely spaced eyes
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"Beaked" nose and possible deviated septum
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Abnormalities of the fingers and/or toes -- they are often short (brachydactyly) and some mild webbing (syndactyly) may be present
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Intelligence is usually not impaired
Why did this happen?
Saethre-Chotzen is usually found in several generations of a family, as it is an inherited disorder; however, because the features are often so minor, many times it is never diagnosed. It is an "autosomal dominant" disorder caused by a change or "mutation" in only one copy of a gene from one biologic parent. The altered gene is located on chromosome 7.
Will this happen to children I have in the future?
Because it is an "autosomal dominant" disorder, there is a 50% chance of passing on Saethre-Chotzen to the child.
What kinds of problems could my child have?
In addition to the physical characteristics, growth delays may occur, leading to less than average adult height.
Will my child need surgery?
Very often, the physical characteristics are so mild that no surgical treatment is necessary. Facial appearance tends to improve as the child grows; however, the following may by necessary:
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Surgery to correct the fusion of the cranial structures
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Surgery to correct the webbing of the fingers
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Reconstructive surgery to eyelids and nose
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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 listing below will get you started.
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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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US National Library of MedicineYour guide to understanding genetic conditions.
Website: ghr.nlm.nih.gov/condition/saethre-chotzen-syndrome
Headlines, Craniofacial Support
This excellent international organization has a booklet on Saethre-Chotzen Syndrome, as well as a support network of families dealing with this syndrome. They also have a number of journal articles relating to Saethre-Chotzen.
Phone: 0330 120 0410
Website: www.headlines.org.uk
Alliance of Genetic Support Groups
Request information about Saethre-Chotzen Syndrome.
Phone: (800) 336-4363, 202-966-5557
Website: www.geneticalliance.org
National Health Law Program
Provides extensive information on health care law affecting families with children who have special needs.
Phone: (202) 289-7661
Website: healthlaw.org
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Let's Face It
Excellent Resource! Very comprehensive listing of resources available for people with facial differences.
Website: media.dent.umich.edu/faceit/info
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.
